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    A risk stratification for systemic immunoglobulin light-chain amyloidosis with renal involvement. Li Ting,Huang Xianghua,Wang Qingwen,Zhao Liang,Ren Guisheng,Chen Wencui,Zheng Chunxia,Zhou Minlin,Jiang Qi,Yin Ru,Liu Zhihong British journal of haematology Renal involvement is found in about 70% of patients with systemic immunoglobulin light-chain (AL) amyloidosis. However, there is no risk stratification system specialized for renal AL concerning patients' survival. Galectin-3 (Gal-3) has been reported to portend poor prognosis in other renal diseases. We measured Gal-3 and several traditional risk biomarkers of AL in baseline samples from 253 consecutive patients diagnosed with renal AL. At baseline, Gal-3 [Hazard ratio (HR): 1·46; P = 0·033], high-sensitivity cardiac troponin T (hs-cTnT) (HR: 2·65; P < 0·001) and difference between involved and uninvolved free light chains (dFLC) (HR: 1·81; P = 0·001) were independent predictors of all-cause mortality. The cut-off points for Gal-3, hs-cTnT, and dFLC were 20·24 ng/ml, 0·026 ng/ml, and 75·89 mg/l, respectively. Patients were stratified into four stages by assigning a score of 1 for each of the three biomarkers above the cut-off point. The proportions of patients with disease stages 1, 2, 3 and 4 were 17·0%, 37·2%, 29·2% and 16·6%, and the median overall survival times from diagnosis were 100, 60, 29 and 15 months, respectively (P < 0·01). Higher level of Gal-3 is associated with increased risk for mortality, and the risk stratification based on Gal-3 is a reliable model for predicting mortality in AL amyloidosis with renal involvement. 10.1111/bjh.16112
    The Clinical Presentation and Management of Systemic Light-Chain Amyloidosis in China. Huang Xiang-Hua,Liu Zhi-Hong Kidney diseases (Basel, Switzerland) BACKGROUND:Amyloidosis includes a group of diseases characterized by the extracellular deposition of various fibrillary proteins that can autoaggregate in a highly abnormal fibrillary conformation. The amyloid precursor protein of systemic light-chain (AL) amyloidosis is comprised of monoclonal light chains that are due to plasma cell dyscrasia. The clinical presentation of patients with AL amyloidosis varies from patient to patient. Current treatment strategies target the clone in order to decrease the production of the pathologic light chains. Recent advances in therapy have helped many patients with AL amyloidosis achieve hematologic and organ responses. SUMMARY:AL amyloidosis is the most common type of systemic amyloidosis in China with increasing morbidity and a high mortality rate. The clinical presentation of AL amyloidosis is variable, and the median overall survival was found to be 36.3 months. The disease prognosis and risk stratification are linked to serialized measurement of cardiac biomarkers and free light chains. The treatment of AL amyloidosis is mainly based on chemotherapy and autologous hematopoietic stem cell transplantation (ASCT). The use of novel agents (thalidomide, lenalidomide, and bortezomib) alone and in combination with steroids and alkylating agents has shown efficacy and continues to be explored. KEY MESSAGES:AL amyloidosis is the most common type of systemic amyloidosis in China with increasing morbidity and a high mortality rate. The lack of prospective clinical trials using the current therapies is a challenge for evidence-based decision making concerning the treatment of AL amyloidosis. FACTS FROM EAST AND WEST:(1) AL amyloidosis is the most prevalent type of amyloidosis accounting for 65% of the amyloidosis-diagnosed patients in the UK and for 93% of the amyloidosis-diagnosed patients in China. The predisposition of men over women to develop AL amyloidosis might be higher in China than in Western countries (2:1 vs. 1.3:1). Both in the East and West, incidence increases with age. At the time of diagnosis, edema is twice as frequent and the proportion of renal involvement is higher in Chinese compared to Western patients. (2) Melphalan followed by ASCT is the current standard therapy but is restricted to eligible patients. The efficacy and safety of bortezomib combined with dexamethasone were proven in Western patients and recently confirmed in a Chinese cohort. Recent studies in China and the US indicate that bortezomib induction prior to ASCT increases the response rate. Thalidomide and lenalidomide have shown benefit, but toxicity and lack of clinical evidence exclude these agents from first-line therapy. The green tea extract epigallocatechin-3-gallate is under investigation as an inhibitor of AL amyloid formation and a compound that might dissolve amyloid. 10.1159/000444287
    The role of the kidney in AL amyloidosis. Deshpande Priya P,Jhaveri Kenar D Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 10.1093/ndt/gfz240
    Regression of chronic kidney disease in a patient with AL amyloidosis: A case report
. Rowland Thomas Anthony,Gillmore Julian,Bhandari Sunil Clinical nephrology BACKGROUND:AL amyloidosis is a disease that causes significant end-organ damage via deposition of insoluble amyloid fibrils, which cause disruption of normal tissue architecture and function. The mainstay of current treatment employs various chemotherapy regimens, all of which aim to suppress the underlying plasma cell dyscrasia and reduce the production of amyloidogenic precursor proteins. Renal disease is found in between 50 and 80% of sufferers and is often both progressive and irreversible, ultimately leading to end-stage renal failure and death. Recovery from advanced chronic kidney disease is uncommon, however, this case demonstrates that it is possible with ongoing therapy. CASE PRESENTATION:We report the case of a 53-year-old lady with amyloid-induced nephrotic syndrome who underwent intensive chemotherapy. Initially, this lady experienced the gradual decline in renal function typical of the natural history of this disease; her renal function indicated an impending need for dialysis. However, soon after, evidence of recovery became apparent on serum amyloid protein component scintigraphy, measurement of serum free light chains, and measurement of renal parameters. Ultimately, her renal disease was completely resolved. CONCLUSION:This case shows that renal recovery in AL amyloidosis may be possible and also highlights the importance of continued therapy in order to achieve clonal response and recovery of organ function.
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    Predicting survival in light chain amyloidosis. Palladini Giovanni,Milani Paolo,Merlini Giampaolo Haematologica 10.3324/haematol.2019.218859
    Acute liver failure due to primary amyloidosis in a nephrotic syndrome: a swiftly progressive course. Cardoso Brigite Aguiar,Leal Rita,Sá Helena,Campos Mário BMJ case reports AL amyloidosis is a clonal plasma cell proliferative disorder characterised by extracellular tissue deposits of insoluble fibrils derived from κ or λ immunoglobulin light chains. The most common organs affected by AL amyloidosis are the kidney, presenting with nephrotic syndrome and/or progressive renal dysfunction, and the heart, with restrictive cardiomyopathy. Hepatic deposition of fibrils occurs in half the cases but the liver is rarely the predominantly affected organ. The most common presentation of hepatic amyloidosis is hepatomegaly with elevated alkaline phosphatase. Acute liver failure with cholestasis and jaundice is a rare complication, with a prevalence of approximately 5%, and is usually associated with a worse prognosis. We report a case of a 39-year-old man admitted to our nephrology department with an unusual presentation of primary amyloidosis with nephrotic syndrome and acute liver failure, complicated by obstructive cholestasis resulting in death 2 months after diagnosis. 10.1136/bcr-2016-214392
    Nephrotic syndrome secondary to amyloidosis in a patient with monoclonal gammopathy with renal significance (MGRS). Niculae Andrei,Peride Ileana,Vinereanu Vlad,Rădulescu Daniela,Bratu Ovidiu Gabriel,Geavlete Bogdan Florin,ChecheriŢă Ionel Alexandru Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie Monoclonal gammopathy with renal significance (MGRS) is a relative new-described entity, diagnosed especially in older patients and deriving from the group with monoclonal gammopathy of undetermined significance (MGUS). Various renal lesions may arise in MGRS, according to the ultrastructural characteristics of the monoclonal immunoglobulin deposition in the kidney, from proliferative glomerulopathies and amyloidosis to light chain proximal tubulopathy and crystal-storing histiocytosis. Although both are considered premalign or non-malignant hematological conditions, kidney involvement in MGRS aggravates the prognosis of the patients and need to be treated aggressively. We discuss the case of a 44-year-old female patient admitted in our Department of Nephrology for clinical picture of impure nephrotic syndrome and decreased renal function associated with Bence-Jones proteinuria. Renal biopsy was performed, and fibrillar amyloid deposits were demonstrated both in glomerular and tubular basement membranes; the immunofluorescence identified the presence of κ chains. Bone marrow aspiration and biopsy showed <10% plasmocytic proliferation confirming the diagnosis of MGRS.
    Biomarkers in Immunoglobulin Light Chain Amyloidosis. Kufová Z,Sevcikova T,Growkova K,Vojta P,Filipová J,Adam Z,Pour L,Penka M,Rysava R,Němec P,Brozova L,Vychytilova P,Jurczyszyn A,Grosicki S,Barchnicka A,Hajdúch M,Simicek M,Hájek R Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti Immunoglobulin light chain amyloidosis (AL amyloidosis - ALA) is a monoclonal gammopathy characterized by presence of aberrant plasma cells producing amyloidogenic immunoglobulin light chains. This leads to formation of amyloid fibrils in various organs and tissues, mainly in heart and kidney, and causes their dysfunction. As amyloid depositing in target organs is irreversible, there is a big effort to identify biomarker that could help to distinguish ALA from other monoclonal gammopathies in the early stages of disease, when amyloid deposits are not fatal yet. High throughput technologies bring new opportunities to modern cancer research as they enable to study disease within its complexity. Sophisticated methods such as next generation sequencing, gene expression profiling and circulating microRNA profiling are new approaches to study aberrant plasma cells from patients with light chain amyloidosis and related diseases. While generally known mutation in multiple myeloma patients (KRAS, NRAS, MYC, TP53) were not found in ALA, number of mutated genes is comparable. Transcriptome of ALA patients proves to be more similar to monoclonal gammopathy of undetermined significance patients, moreover level of circulating microRNA, that are known to correlate with heart damage, is increased in ALA patients, where heart damage in ALA typical symptom.Key words: amyloidosis - plasma cell - genome - transcriptome - microRNA. 10.14735/amko20172S60
    [An unusual presentation of Amyloidosis AL]. Zito Anna,De Pascalis Antonio,Ria Paolo,Armeni Annarita,D'Amelio Alessandro,Napoli Marcello Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia We describe the case of a 74-year-old man admitted to our Nephrology Unit with nephrotic syndrome and mild kidney disease. A complete panel of laboratoristic and instrumental tests did not provide useful information for diagnosis. No specific signs or symptoms suggested the presence of AL amyloidosis. As a matter of fact, diagnosis was reached thanks to the hystopathologic examination of renal tissue and bone marrow, since the associated B-cell lymphoproliferative disorder had not revealed itself through serum and urine electrophoresis and immunofixation. This recent case provides the opportunity to review about the disease and to revaluate the renal biopsy as a first line exam in a clinical context where laboratoristic and instrumental tests offer us poor information.
    Depth of organ response in AL amyloidosis is associated with improved survival: grading the organ response criteria. Muchtar Eli,Dispenzieri Angela,Leung Nelson,Lacy Martha Q,Buadi Francis K,Dingli David,Grogan Martha,Hayman Suzanne R,Kapoor Prashant,Hwa Yi Lisa,Fonder Amie,Hobbs Miriam,Chakraborty Rajshekhar,Gonsalves Wilson,Kourelis Taxiarchis V,Warsame Rahma,Russell Stephen,Lust John A,Lin Yi,Go Ronald S,Zeldenrust Steven,Kyle Robert A,Rajkumar S Vincent,Kumar Shaji K,Gertz Morie A Leukemia Organ recovery following anti-plasma cell therapy is associated with improved outcome in patients with AL amyloidosis. Current organ response criteria do not consider the depth of response. Newly diagnosed AL amyloidosis patients who had involvement of at least one evaluable organ and documentation of organ response were included. Cardiac response was seen in 182 patients. Time to cardiac response was 9.4 months. Renal response was seen in 278 patients, at a median time to response of 6 months. Hepatic response was seen in 70 patients, with a median time to response of 6.1 months. In all organs, the deeper the organ response achieved, the longer the survival. This led to four organ response criteria: complete organ response (nadir NT-proBNP ≤400 pg/mL; nadir proteinuria ≤200 mg per 24 h; nadir alkaline phosphatase ≤×2 lower limit of normal); very good partial organ response (>60% reduction in parameter not meeting complete organ response definition); partial organ response (31-60% reduction in parameter); and non-responder (≤30% reduction in organ response parameter). Cardiac and renal progression were associated with baseline organ impairment and inversely associated with the depth of organ response. Grading the depth of organ response provides additional valuable prognostic information for newly diagnosed AL amyloidosis patients. 10.1038/s41375-018-0060-x
    Clinical Presentation of Tubulointerstitial Nephritis Caused by Amyloid Light-chain Amyloidosis in a Patient with Sjögren's Syndrome. Inoue Reiko,Fujigaki Yoshihide,Kobayashi Kana,Tamura Yoshifuru,Ota Tatsuru,Shibata Shigeru,Ishida Tsuyoshi,Kondo Fukuo,Yamaguchi Yutaka,Uchida Shunya Internal medicine (Tokyo, Japan) We report a 70-year-old woman with Sjögren's syndrome who had severe renal dysfunction with mild proteinuria and elevated urinary low-molecular-weight proteins. Based on these clinical presentations, interstitial nephritis due to Sjögren's syndrome was strongly suspected. Unexpectedly, renal pathology revealed amyloid light-chain (AL) lambda-type depositions predominantly in the vasculatures with severe tubulointerstitial damage. Concentrated urine immunofixation was positive for Bence Jones lambda-type monoclonal proteins. Given the involvement in other organs, systemic AL amyloidosis was diagnosed. The patient underwent chemotherapy, but hemodialysis was ultimately instituted. It should be remembered that renal amyloidosis occurs as a clinical presentation of interstitial nephritis. 10.2169/internalmedicine.56.7548
    Light Chain (AL) Amyloidosis: The Journey to Diagnosis. McCausland Kristen L,White Michelle K,Guthrie Spencer D,Quock Tiffany,Finkel Muriel,Lousada Isabelle,Bayliss Martha S The patient BACKGROUND:Light chain (AL) amyloidosis is a rare, complex disease associated with significant morbidity and mortality. Delays in diagnosis are common and may have detrimental consequences on patients' prognosis. Too little is known regarding the patient journey to diagnosis. OBJECTIVE:The objective of this study was to describe the patient-reported journey to a correct diagnosis for AL amyloidosis. METHODS:Using a mixed-methods approach, data were collected from clinician (n = 4) and patient (n = 10) interviews and a survey of community-based patients with AL amyloidosis (n = 341). Data were used to document the patient experience between the onset of symptoms and the receipt of a diagnosis. RESULTS:Delays in diagnosis were common. Qualitative and quantitative data indicated that initial symptoms were varied and similar to other more prevalent diseases. Two themes regarding the journey to diagnosis emerged: (1) barriers to an early diagnosis; and (2) the emotional toll of the journey. Time to diagnosis was heavily influenced by how patients interpreted their initial symptoms, whether they sought early medical help, and challenges associated with making differential diagnoses. Survey results indicate that patients with primary cardiac involvement were more likely to receive a delayed diagnosis than those with primary kidney involvement. Patients described mixed emotions associated with the eventual diagnosis of AL amyloidosis. CONCLUSIONS:These data support a need for better early identification and support for patients seeking a diagnosis. Increasing clinician awareness may reduce the time to diagnosis. Additional research is needed to identify optimal diagnostic testing to reduce delays in treatment initiation and subsequent severe impacts on health. 10.1007/s40271-017-0273-5
    Multiorgan involvement by amyloid light chain amyloidosis. Li Guoliang,Han Dan,Wei Suhua,Wang Huaiyu,Chen Limei The Journal of international medical research Amyloid light chain (AL) amyloidosis is a protein conformational disease. AL amyloidosis results from aggregation of misfolded proteins that are deposited in tissues as amyloid fibrils. Diagnosis of AL amyloidosis can be challenging due to its low incidence and clinical complexity. Therapy requires a risk-adapted approach involving dose reductions and schedule modifications of chemotherapy regimens along with close monitoring of hematologic and organ responses. We herein describe a patient whose condition was diagnosed as systemic AL amyloidosis and presented with splenic rupture as the initial symptom. Congo red staining of the kidney biopsy was positive. The normal structure of the liver and spleen had been replaced by amyloid deposition. The chemotherapy strategy involved a combination of bortezomib, cyclophosphamide, thalidomide, and dexamethasone. 10.1177/0300060518814337
    Amyloidosis: a unifying diagnosis for nephrotic syndrome and congestive cardiac failure. Sara Jaskanwal Deep Singh,Khodadadi Ryan,Barth Dylan,Burton Mary Caroline BMJ case reports Diagnosing patients simply with or is insufficient, and clinicians should always search for the underlying causes of these syndromes. Amyloidosis represents a rare group of diseases in which abnormal protein, namely amyloid fibrils, build up in various organs. Presentation depends on which organ systems are involved, and symptoms could include breathlessness associated with fluid overload suggestive of cardiac and/or renal involvement and diarrhoea and weight loss, suggestive of gastrointestinal involvement. The authors present a case of congestive cardiac failure and nephrotic range proteinuria in a patient with persistent fluid overload secondary toamyloid light-chain (AL) amyloidosis. 10.1136/bcr-2018-224317
    High-Dose Melphalan and Stem Cell Transplantation in Patients on Dialysis Due to Immunoglobulin Light-Chain Amyloidosis and Monoclonal Immunoglobulin Deposition Disease. Batalini Felipe,Econimo Laura,Quillen Karen,Sloan J Mark,Sarosiek Shayna,Brauneis Dina,Havasi Andrea,Stern Lauren,Dember Laura M,Sanchorawala Vaishali Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation The kidney is the most common organ affected by immunoglobulin light-chain (AL) amyloidosis and monoclonal immunoglobulin deposition disease (MIDD), often leading to end-stage renal disease (ESRD). High-dose melphalan and stem cell transplantation (HDM/SCT) is effective for selected patients with AL amyloidosis, with high rates of complete hematologic response and potential for improved organ dysfunction. Data on tolerability and response to HDM/SCT in patients with ESRD due to AL amyloidosis and MIDD are limited. We analyzed data on toxicity, efficacy, and hematologic and renal response of HDM/SCT in 32 patients with AL amyloidosis and 4 patients with MIDD who were dialysis-dependent for ESRD treated at Boston Medical Center between 1994 and 2016. The most common grade 3/4 nonhematologic toxicities were infections (75%), metabolic abnormalities (56%), mucositis (42%), constitutional symptoms (39%), pulmonary complications (39%), and diarrhea (28%). Treatment related mortality (defined as death within 100 days of SCT) occurred in 8% (3 of 36). A complete hematologic response was achieved in 70% of evaluable patients (19 of 27) at 1 year after HDM/SCT. In the entire cohort, median overall survival (OS) after HDM/SCT was 5.8 years; median OS was 1 year for those who did not achieve a complete hematologic response and 8 years for those who did achieve a complete hematologic response. Twelve patients (33%) underwent kidney transplantation after successful treatment with HDM/SCT at a median of 2.4 years after SCT. HDM/SCT is safe and effective in inducing hematologic complete responses and prolonging survival in patients with ESRD from AL amyloidosis and MIDD. Achievement of a durable hematologic response can make these patients possible candidates for renal transplantation. 10.1016/j.bbmt.2017.08.031
    Amyloidosis: A cancer-derived paraproteinemia and kidney involvement. Małyszko Jolanta,Kozłowska Klaudia,Małyszko Jacek Stanisław Advances in medical sciences Amyloidosis is the general term describing the extracellular tissue deposition of fibrils composed of low molecular weight subunits of a variety of proteins. There are multiple different human protein precursors of amyloid fibrils. Amyloid deposits are stained using Congo Red and show typical apple-green birefringence in polarized microscopy. Nowadays, a novel technique LMD/MS technique or laser microdissection combined with mass spectrometry help to diagnose amyloidosis. Amyloidosis of the kidney is typically classified as being either one of two types: AL or AA. Less common is the hereditary amyloidosis. Clinical manifestations are usually determined by the type of precursor protein, the tissue distribution, and the amount of amyloid deposition. Renal manifestation is usually present as asymptomatic proteinuria or clinically apparent nephrotic syndrome. In some patients clinical presentation include impaired kidney function with no or mild proteinuria. Patients with renal amyloidosis who progress to end-stage renal disease (ESRD) can be treated with either dialysis or renal transplantation. Diagnosis of amyloidosis is prerequisite to consider treatment options to avoid unnecessary chemotherapy. Treatment of amyloidosis is aimed at decreasing the precursors of fibrillary proteins and/or decrease in synthesis/deposition of amyloid fibrils. It depends upon the type of amyloidosis and cause of excess fibril production. 10.1016/j.advms.2016.06.004
    Long-term outcome of kidney transplantation in AL amyloidosis. Angel-Korman Avital,Stern Lauren,Sarosiek Shayna,Sloan J Mark,Doros Gheorghe,Sanchorawala Vaishali,Havasi Andrea Kidney international Therapies for AL amyloidosis have dramatically improved, leading to longer patient survival; however, more AL amyloidosis patients are reaching end-stage renal disease (ESRD). There are no clear guidelines regarding eligibility for kidney transplantation in patients with AL amyloidosis, and data on outcomes are limited. We evaluated the clinical and laboratory data of 49 patients who were followed in the Amyloidosis Center at Boston University and underwent kidney transplantation at a center in the United States between 1987-2017. During a median follow-up of 7.2 years (range 0-19), the median patient survival from diagnosis was 15.4 years, and from kidney transplantation was 10.5 years. One, three, and five-year graft survival were 94%, 89%, and 81%, respectively. Patients with hematologic complete response or very good partial response prior to kidney transplantation had significantly better patient survival than patients with partial response or no response, and the median time to graft loss was 10.4 years versus 5.5 years, respectively. This is the largest published series of kidney transplantation in patients with AL amyloidosis, suggesting that kidney transplantation can have a good outcome in carefully selected patients, particularly in those who have achieved a complete response or very good partial response at the time of kidney transplantation. 10.1016/j.kint.2018.09.021
    Renal-limited AL amyloidosis - a diagnostic and management dilemma. Fuah Kar Wah,Lim Christopher Thiam Seong BMC nephrology BACKGROUND:Amyloidosis is a disorder caused by extracellular tissue deposition of insoluble fibrils which may result in a wide spectrum of symptoms depending upon their types, sites and amount of deposition. Amyloidosis can be divided into either systemic or localized disease. CASE PRESENTATION:We present a case of a middle-aged gentleman who presented with persistent nephrotic syndrome with worsening renal function. Repeated renal biopsies showed the presence of renal-limited AL amyloidosis. Systemic amyloidosis workup was unremarkable apart from a slightly raised band of IgG lambda level with no associated immunoparesis. The nephrotic syndrome and renal histology did not improve over a 3-year period despite being given two courses of chemotherapies. CONCLUSION:We hope that early recognition of this unusual localised presentation of renal- limited AL Amyloidosis and its poor response to conventional treatment can alert the nephrologist to the potential existence of this rare condition. 10.1186/s12882-018-1118-8
    A Modern Primer on Light Chain Amyloidosis in 592 Patients With Mass Spectrometry-Verified Typing. Muchtar Eli,Gertz Morie A,Kyle Robert A,Lacy Martha Q,Dingli David,Leung Nelson,Buadi Francis K,Hayman Suzanne R,Kapoor Prashant,Hwa Yi Lisa,Fonder Amie,Hobbs Miriam,Gonsalves Wilson,Kourelis Taxiarchis V,Warsame Rahma,Russell Stephen,Lust John A,Lin Yi,Go Ronald S,Zeldenrust Steven,Rajkumar S Vincent,Kumar Shaji K,Dispenzieri Angela Mayo Clinic proceedings OBJECTIVE:To describe the clinical and laboratory characteristics of patients with meticulously typed light chain (AL) amyloidosis. PATIENTS AND METHODS:Patients (N=592) with biopsy-proven, mass spectrometry-confirmed AL amyloidosis diagnosed from January 1, 2008, through August 31, 2015, were included. RESULTS:The median patient age at diagnosis was 63 years. Thirty-four percent of patients (n=204) had isolated organ involvement, mostly heart (19% [n=115]) followed by kidney (9% [n=53]). In contrast, 25% (n=146) had more than 2 involved organs. Patients with isolated cardiac involvement had similar cardiac dysfunction compared with those with nonisolated cardiac amyloidosis. In contrast, isolated renal involvement was associated with increased proteinuria and higher estimated glomerular filtration rate compared with nonisolated renal amyloidosis. Serum and urine immunofixation electrophoresis results were positive in 80% and 88% of patients, respectively, with 94% of patients having at least 1 positive immunofixation electrophoresis result (serum or urine). The serum free light chain ratio was abnormal in 91% of patients. When all monoclonal protein studies were combined, only 1 patient (0.2%) had normal results. The 1- and 5-year survival rates were 65% and 46%, respectively. Survival of patients with cardiac amyloidosis was not influenced by the number of involved organs (1 vs >1 organ), emphasizing the prognostic significance of cardiac involvement. CONCLUSION:When mass spectrometry is used to definitively type amyloid, only a fraction of a percent of patients with AL have negative monoclonal protein studies, unlike historical reports. Patient characteristics and outcomes of accurately typed patients are described. 10.1016/j.mayocp.2018.08.006
    Clinical and laboratory profile of renal amyloidosis: A single-center experience. Engineer Divyesh P,Kute Vivek B,Patel Himanshu V,Shah Pankaj R Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia The kidney is the most common organ involved in systemic amyloidosis. We aimed to study etiology and clinicopathological profile of renal amyloidosis. This was a retrospective study of 40 consecutive adult patients with biopsy-proven renal amyloidosis evaluated over a period of two years. Emphasis was given to describing the clinical presentation, renal function, proteinuria, type of amyloidosis, and its etiology. Mean age of the study cohort was 44 ± 15 years (with a male-to-female ratio of 3:1). Amyloid A (AA) amyloidosis was the most common type of amyloidosis observed in 72.5% of cases. Amyloid light chain (AL) amyloidosis accounted for 17.5% of cases, and the rest remained undetermined. AA amyloidosis had widespread age distribution while AL amyloidosis was confined to those >40 years. Proteinuria was the most common renal manifestation observed in all patients. Nephrotic syndrome was seen in 70% of patients. Mean 24 h proteinuria was 6.4 g. Renal failure was the second most common manifestation seen in 70% of patients, of whom 21.4% required hemodialysis. Tuberculosis (TB) accounted for 90% cases of AA amyloidosis. The most prevalent form was pulmonary TB while the rest accounted for by rheumatoid arthritis and bronchiectasis. Among patients with TB induced amyloidosis, 61.5% had received adequate treatment for TB in the past. All patients with AL amyloidosis had nephrotic range proteinuria, five had renal failure out of which two required dialysis. Cardiac involvement was seen in two patients. AA amyloidosis was the most common type of renal amyloidosis in the present study and pulmonary TB was the most common etiology. 10.4103/1319-2442.243966
    Autologous hematopoietic stem cell transplantation in light chain amyloidosis (AL) with renal involvement. Cornelison A M,Saliba R M,Afrough A,Dinh Y,Nieto Y,Bashir Q,Shah N,Parmar S,Hosing C,Popat U,Shpall E,Champlin R,Qazilbash M H Bone marrow transplantation 10.1038/bmt.2015.242
    Renal amyloidosis. Kidd Jason,Carl Daniel E Current problems in cancer 10.1016/j.currproblcancer.2016.08.002
    [Primary renal amyloidosis: feautures of disease course and the possibilities of in-time diagnosis (clinical case report)]. Katerenchuk Ivan P,Tkachenko Lidia A,Yarmola Tetiana,Katerenchuk Oleksandr I Wiadomosci lekarskie (Warsaw, Poland : 1960) The article presents a clinical case of primary renal amyloidosis that was diagnosed in female patient. Typically, the spectrum of clinical signs of primary amyloidosis is wide: from moderate symptoms in some patients having localized amyloidosis, to life-threatening conditions that require rapid diagnosis determination and aggressive treatment. Finding a diagnosis of primary renal amyloidosis is enough difficult as for family doctors as for well-skilled nephrologists. In some cases, the primary renal amyloidosis starts with atypical symptoms, and so, only doctor's sufficient clinical experience combined with the in-time usage of highly informative diagnostic methods (morphological and immunological evaluation of the renal biopsy), allows to make an in-time diagnosis of the disease and to prescribe specific therapy that can slow down the disease progression and delay the time of severe complications development. The purpose of this publication is to inform general practioners with the individual features of the primary renal amyloidosis onset, its clinical course and the possibilities for in-time diagnosis. In the presented case, the primary renal amyloidosis features were: the onset of the disease with severe edema that was later associated with pleural effusion, the laboratory changes in way of massive proteinuria, hypo- and dysproteinemia, the increased erythrocytes' sedimentation rate. Determination of the right diagnosis of primary renal amyloidosis was provided by performing kidneys' biopsy with further pathomorphological and immunological evaluation. KEY WORDS.
    Trends in Survival and Renal Recovery in Patients with Multiple Myeloma or Light-Chain Amyloidosis on Chronic Dialysis. Decourt Alexandre,Gondouin Bertrand,Delaroziere Jean Christophe,Brunet Philippe,Sallée Marion,Burtey Stephane,Dussol Bertrand,Ivanov Vadim,Costello Regis,Couchoud Cecile,Jourde-Chiche Noemie Clinical journal of the American Society of Nephrology : CJASN BACKGROUND AND OBJECTIVES:Monoclonal gammopathies (MGs) with renal involvement can lead to ESRD caused by myeloma cast nephropathy (MCN), immunoglobulin light chain amyloidosis (ALA), or light-chain deposition disease (LCDD). Few studies have focused on the prognosis of patients with MG on chronic dialysis. We evaluated the outcomes of patients with MG incident on chronic dialysis in France. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS:All incident patients registered in the Renal Epidemiology and Information Network Registry between 2002 and 2011 with ESRD caused by ALA, LCDD, or MCN were included. Patient's survival, censored for renal transplantation, renal recovery, and loss to follow-up, as well as renal outcomes were analyzed and compared with a control group. Risk factors and causes of death were analyzed. RESULTS:We included 1459 patients, comprising 265 (18%) patients with ALA, 334 (23%) patients with LCDD, and 861 (59%) patients with MCN. Median age was 72 years, and 56% were men. Median follow-up was 13.1 months. Renal recovery was observed in 9.1% of patients and more frequent after 2006. Kidney transplantation was rare in this population (2.3%). Among 1272 patients who remained on dialysis, 67% died. Median survival on dialysis was 18.3 months. Main causes of death were malignancies (34.4%), cardiovascular diseases (18%), infections (13.3%), and cachexia (5.2%). Independent risk factors of death were age (hazard ratio [HR], 1.03 per year increase; 95% confidence interval [95% CI], 1.02 to 1.03), frailty (HR, 1.93; 95% CI, 1.58 to 2.36), congestive heart failure (HR, 1.54; 95% CI, 1.23 to 1.93), and dialysis initiation on a central catheter (HR, 1.40; 95% CI, 1.11 to 1.75). Factors associated with a lower risk of death were year of dialysis initiation (HR, 0.95 per year increase; 95% CI, 0.91 to 0.99) and high BP (HR, 0.80; 95% CI, 0.67 to 0.97). CONCLUSIONS:Survival of patients with ALA, LCDD, or MCN on chronic dialysis is poor but has improved over time. Progressive malignancy is the main cause of death in this population. Renal recovery has increased since 2006. 10.2215/CJN.06290615
    Bortezomib with dexamethasone as first-line treatment for AL amyloidosis with renal involvement. Huang Xianghua,Wang Qingwen,Chen Wencui,Ren Guisheng,Liu Zhihong Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis Although bortezomib has reported efficacy in light chain (AL) amyloidosis, the role of bortezomib in combination with dexamethasone (BD) as the first-line treatment for patients with AL amyloidosis has not been determined. We analyzed the outcomes of 72 consecutive unselected patients, which received primary therapy with BD in a single center. The patients were newly diagnosed with AL amyloidosis with renal (100%), cardiac (72%), hepatic (19%) or nervous system (10%) involvement and underwent a median of 2 (1-6) cycles of BD treatment. A hematologic response was achieved in 75% of the patients within a median period of 2 months, and 45% of those patients achieved a complete response. A renal response was achieved in 50% and 60% of patients at 1 year and 2 years, respectively, and a cardiac response was achieved in 40% and 46% of patients at 1 year and 2 years, respectively. After a median follow-up period of 24 months, the median duration of progression free survival was 45 months, and the estimated overall survival rates at 12 and 24 months were 83% and 76%, respectively. Baseline Eastern Cooperative Oncology Group performance status and proteinuria were associated with overall survival. The BD regimen induced high rates of rapid hematologic and organ responses in AL amyloidosis patients. 10.3109/13506129.2016.1138939
    Collapsing Glomerulopathy in Lambda Light Chain Amyloidosis: A Report of 2 Cases. Khalighi Mazdak A,Gallan Alexander J,Chang Anthony,Meehan Shane M American journal of kidney diseases : the official journal of the National Kidney Foundation Amyloid nephropathy is an uncommon disease that frequently presents with reduced kidney function and proteinuria and, in developed nations, is most often associated with underlying paraproteinemia. The histologic appearance of glomerular amyloid deposition includes mesangial and capillary wall infiltration by an amorphous eosinophilic material, and features of endo- or extracapillary proliferation are not typically seen. Rare cases of crescentic injury have been reported in a subset of patients with amyloid nephropathy, particularly those with amyloid derived from serum amyloid A protein. Collapsing glomerulopathy, which like crescentic injury is associated with an extracapillary proliferation, has not to our knowledge been reported in the setting of amyloid nephropathy. We report 2 patients presenting with acute kidney injury and nephrotic syndrome found to have amyloid nephropathy with prominent epithelial cell hyperplasia and glomerular collapse on biopsy. This injury is likely multifactorial and related to direct podocyte injury and vascular compromise and expands further the spectrum of paraprotein-associated renal injury. 10.1053/j.ajkd.2018.04.009
    Outcome of patients with systemic light chain amyloidosis with concurrent renal and cardiac involvement. Badar Talha,Cornelison Amanda Megan,Shah Nina D,Bashir Qaiser,Parmar Simrit,Patel Krina,Hosing Chitra,Popat Uday,Weber Donna M,Thomas Sheeba K,Shah Jatin J,Orlowski Robert Z,Champlin Richard E,Qazilbash Muzaffar H European journal of haematology Cardiac involvement in systemic light chain amyloidosis (AL) is generally associated with a worse outcome, especially if other organs are also involved. We sought to determine whether concurrent cardiac and renal involvement were associated with a worse outcome than either organ alone. We identified 129 patients with AL, who received high-dose chemotherapy followed by autologous hematopoietic stem cell transplantation (auto-HCT) at our institution between 1997 and 2014. Ninety-nine patients had either renal (group 1: n = 62, 62%), cardiac (group 2: n = 20, 20%), or both cardiac and renal (group 3: n = 17, 17%) involvement. The overall hematological response rate (CR+VGPR+PR) post-auto-HCT in groups 1, 2, and 3 was 69%, 74% and 82%, respectively (P = 0.62). Overall, organ response in groups 1, 2, and 3 was 39%, 42%, and 70%, respectively. The median PFS from auto-HCT in groups 1, 2, and 3 was not reached (NR), 13.3 and 21 months, respectively (P = 0.02). The median OS in groups 1, 2, and 3 was 120, 46, and 60 months, respectively (P = 0.1). In conclusion, median PFS and OS in patients with concurrent cardiac and renal AL were comparable to patients with cardiac AL only, but worse than patients with renal AL. 10.1111/ejh.12736
    Prevalence and predictors of thyroid functional abnormalities in newly diagnosed AL amyloidosis. Muchtar E,Dean D S,Dispenzieri A,Dingli D,Buadi F K,Lacy M Q,Hayman S R,Kapoor P,Leung N,Russell S,Lust J A,Lin Yi,Warsame R,Gonsalves W,Kourelis T V,Go R S,Chakraborty R,Zeldenrust S,Kyle R A,Rajkumar S Vincent,Kumar S K,Gertz M A Journal of internal medicine BACKGROUND:Data on the effect of systemic immunoglobulin light chain amyloidosis (AL amyloidosis) on thyroid function are limited. OBJECTIVE:To assess the prevalence of hypothyroidism in AL amyloidosis patients and determine its predictors. METHODS:1142 newly diagnosed AL amyloidosis patients were grouped based on the thyroid-stimulating hormone (TSH) measurement at diagnosis: hypothyroid group (TSH above upper normal reference; >5 mIU L ; n = 217, 19% of study participants) and euthyroid group (n = 925, 81%). Predictors for hypothyroidism were assessed in a binary multivariate model. Survival between groups was compared using the log-rank test and a multivariate analysis. RESULTS:Patients with hypothyroidism were older, more likely to present with renal and hepatic involvement and had a higher light chain burden compared to patients in the euthyroid group. Higher proteinuria in patients with renal involvement and lower albumin in patients with hepatic involvement were associated with hypothyroidism. In a binary logistic regression model, age ≥65 years, female sex, renal involvement, hepatic involvement, kappa light chain restriction and amiodarone use were independently associated with hypothyroidism. Ninety-three per cent of patients in the hypothyroid group with free thyroxine measurement had normal values, consistent with subclinical hypothyroidism. Patients in the hypothyroid group had a shorter survival compared to patients in the euthyroid group (4-year survival 36% vs 43%; P = 0.008), a difference that was maintained in a multivariate analysis. CONCLUSION:A significant proportion of patients with AL amyloidosis present with hypothyroidism, predominantly subclinical, which carries a survival disadvantage. Routine assessment of TSH in these patients is warranted. 10.1111/joim.12617
    Novel Type of Renal Amyloidosis Derived from Apolipoprotein-CII. Nasr Samih H,Dasari Surendra,Hasadsri Linda,Theis Jason D,Vrana Julie A,Gertz Morie A,Muppa Prasuna,Zimmermann Michael T,Grogg Karen L,Dispenzieri Angela,Sethi Sanjeev,Highsmith W Edward,Merlini Giampaolo,Leung Nelson,Kurtin Paul J Journal of the American Society of Nephrology : JASN Amyloidosis is characterized by extracellular deposition of misfolded proteins as insoluble fibrils. Most renal amyloidosis cases are Ig light chain, AA, or leukocyte chemotactic factor 2 amyloidosis, but rare hereditary forms can also involve the kidneys. Here, we describe the case of a 61-year-old woman who presented with nephrotic syndrome and renal impairment. Examination of the renal biopsy specimen revealed amyloidosis with predominant involvement of glomeruli and medullary interstitium. Proteomic analysis of Congo red-positive deposits detected large amounts of the Apo-CII protein. DNA sequencing of the APOC2 gene in the patient and one of her children detected a heterozygous c.206A→T transition, causing an E69V missense mutation. We also detected the mutant peptide in the proband's renal amyloid deposits. Using proteomics, we identified seven additional elderly patients with Apo-CII-rich amyloid deposits, all of whom had kidney involvement and histologically exhibited nodular glomerular involvement. Although prior in vitro studies have shown that Apo-CII can form amyloid fibrils and that certain mutations in this protein promote amyloid fibrillogenesis, there are no reports of this type of amyloidosis in humans. We propose that this study reveals a new form of hereditary amyloidosis (AApoCII) that is derived from the Apo-CII protein and appears to manifest in the elderly and preferentially affect the kidneys. 10.1681/ASN.2015111228
    [Renal involvement in amyloidosis and sarcoidosis]. Beimler Jörg,Zeier Martin Deutsche medizinische Wochenschrift (1946) Amyloidosis is a rare disease characterized by extracellular deposition of fibrils. Among the most common forms of systemic amyloidosis with renal involvement are AL-amyloidosis based on plasma cell dyscrasia and AA-amyloidosis in chronic inflammatory diseases. Depending on the affected renal compartment, the clinical appearance of renal amyloidosis varies. The pattern of renal amyloid deposition can be glomerular, interstitial, tubular or even vascular. Renal amyloid deposits are detected by renal biopsy. Patients with glomerular deposits typically show severe nephrotic syndrome with volume overload. Patients with predominantly tubulo-interstitial or vascular deposits typically exhibit lower proteinuria and progressive renal impairment. Treatment strategies for renal amyloidosis are primarily based on the treatment of the underlying disease including chemotherapy or stem cell transplantation in AL-amyloidosis or treatment of chronic inflammatory diseases in AA-amyloidosis. Granulomatous interstitial nephritis is the most common renal lesion occurring in sarcoidosis. Therapy of granulomatous interstitial nephritis is mainly based on the use of glucocorticoids. 10.1055/s-0043-106565
    Renal outcomes in patients with AL amyloidosis: Prognostic factors, renal response and the impact of therapy. Kastritis Efstathios,Gavriatopoulou Maria,Roussou Maria,Migkou Magdalini,Fotiou Despina,Ziogas Dimitrios C,Kanellias Nikos,Eleutherakis-Papaiakovou Evangelos,Panagiotidis Ioannis,Giannouli Stavroula,Psimenou Erasmia,Marinaki Smaragdi,Apostolou Theofanis,Gakiopoulou Hariklia,Tasidou Anna,Papassotiriou Ioannis,Terpos Evangelos,Dimopoulos Meletios A American journal of hematology A staging system for patients with renal AL amyloidosis, based on eGFR (<50 ml/min/1.73 m ) and proteinuria (≥5 g/day) at diagnosis, as well as criteria for renal progression (≥25% eGFR reduction) and response (≥30% reduction of proteinuria without renal progression) were recently proposed. We validated these criteria in a cohort of 125 patients with renal AL amyloidosis, mostly treated with bortezomib or lenalidomide. We confirmed the prognostic value of the renal staging system but also identified the limitations of renal progression criteria which are based only on eGFR reduction. We identified the ratio of 24h proteinuria to eGFR as a sensitive marker of renal risk which also accounts for changes in both proteinuria and eGFR: 24h proteinuria/eGFR ratio <30 (in mg/ml/min/1.73 m ) was associated with a 2-year progression to dialysis rate of 0% compared to 9% for a ratio of 31-99 and 35% for a ratio ≥100 (P < .001). In landmark analysis, patients who achieved a reduction of this ratio by at least 25% or ≤100 (if initially >100) at 3 months had a 2-year progression to dialysis of 0% vs 24% for patients who either did not reduce to or still had a ratio >100 (P = .001); similar results were obtained by applying the same criteria at 6 months; thus, the evaluation of treatment effect on renal function may be identified early. Furthermore, primary bortezomib-based therapy was more effective than lenalidomide-based therapy, in terms of renal outcomes, especially in patients at intermediate renal risk, but without affecting overall survival. 10.1002/ajh.24738
    Significant association between renal function and area of amyloid deposition evident in kidney biopsy specimens in both AA and AL amyloidosis. Kuroda Takeshi,Ito Yumi,Imai Naofumi,Nozawa Yukiko,Sato Hiroe,Nakatsue Takeshi,Wada Yoko,Ueno Mitsuhiro,Nakano Masaaki,Narita Ichiei Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 10.1080/13506129.2017.1291421
    A Novel Method of DAPI Staining for Differential Diagnosis of Renal Amyloidosis. Matsuura Motokazu,Abe Hideharu,Tominaga Tatsuya,Sakurai Akiko,Murakami Taichi,Kishi Seiji,Bando Yoshimi,Minakuchi Jun,Nagai Kojiro,Doi Toshio The journal of medical investigation : JMI Amyloidosis is often overlooked because its clinical manifestations can mimic those of more-common diseases. It is important to get a precise diagnosis as early as possible for the prevention of further organ damages. Amyloidosis is a disorder caused by deposition of insoluble abnormal amyloid. The kidney is a frequent site of amyloid deposition. The amyloid fibrils have a characteristic appearance and generate birefringence under polarized light when stained with the Congo red dye. Classification of amyloidosis is based on the precursor protein that forms the amyloid fibrils and the distribution of amyloid deposits as either systemic or localized. Involvement of amyloid fibrils in kidneys mainly occurs as amyloid light-chain (AL) or amyloid A (AA) amyloidosis. The potassium permanganate method with Congo red staining was once used widely to discriminate AL and AA amyloidoses, but this method has a problem of false positive results. We found that extracellular and cytoplasmic glomerular 4', 6-diamidino-2-phenylindole (DAPI)-positive areas were clearly consistent with amyloid deposition in AL amyloidosis. In contrast, the overlapping staining was not seen in AA amyloidosis. Therefore, we propose that DAPI staining readily distinguishes AL renal amyloidosis from AA renal amyloidosis as a simple and reproducible histochemical method. J. Med. Invest. 64: 217-221, August, 2017. 10.2152/jmi.64.217
    Long-term prognosis of AL and AA renal amyloidosis: a Japanese single-center experience. Ozawa Masatoyo,Komatsuda Atsushi,Ohtani Hiroshi,Nara Mizuho,Sato Ryuta,Togashi Masaru,Takahashi Naoto,Wakui Hideki Clinical and experimental nephrology BACKGROUND:Few studies have been conducted on the long-term prognosis of patients with amyloid light chain (AL) and amyloid A (AA) renal amyloidosis in the same cohort. METHODS:We retrospectively examined 68 patients with biopsy-proven renal amyloidosis (38 AL and 30 AA). Clinicopathological findings at the diagnosis and follow-up data were evaluated in each patient. We analyzed the relationship between clinicopathological parameters and survival data. RESULTS:Significant differences were observed in several clinicopathological features, such as proteinuria levels, between the AL and AA groups. Among all patients, 84.2 % of the AL group and 93.3 % of the AA group received treatments for the underlying diseases of amyloidosis. During the follow-up period (median 18 months in AL and 61 months in AA), 36.8 % of the AL group and 36.7 % of the AA group developed end-stage renal failure requiring dialysis, while 71.1 % of the AL group and 56.7 % of the AA group died. Patient and renal survivals were significantly longer in the AA group than in the AL group. eGFR of >60 mL/min/1.73 m at biopsy and an early histological stage of glomerular amyloid deposition were identified as low-risk factors. A multivariate analysis showed that cardiac amyloidosis and steroid therapy significantly influenced patient and renal survivals. CONCLUSIONS:Our results showed that heart involvement was the major predictor of poor outcomes in renal amyloidosis, and that the prognosis of AA renal amyloidosis was markedly better than that in previously reported cohorts. Therapeutic advances in inflammatory diseases are expected to improve the prognosis of AA amyloidosis. 10.1007/s10157-016-1271-y
    Glomerular expression of matrix metalloproteinases in AL-amyloidosis and association with renal function at the time of kidney biopsy. Charitaki Evangelia,Kastritis Efstathios,Petraki Constantina,Liapis Konstantinos,Adamidis Konstantinos,Apostolou Theophanis,Christodoulidou Christallenia,Nikolopoulou Nikoleta,Terpos Evangelos,Nakopoulou Lydia,Dimopoulos Meletios A Clinical nephrology BACKGROUND:Matrix metalloproteinases (MMPs) have been implicated in the pathophysiology of various renal diseases, however, there are limited data regarding their role in renal AL-amyloidosis. In the present study, we evaluated the glomerular expression of MMPs in renal-biopsy specimens containing AL-amyloid deposits. We also examined the association of MMPs with renal function at the time of diagnostic renal biopsy. METHODS:We performed immunohistochemistry with monoclonal antibodies against MMP-1, MMP-2, MMP-3, MMP-9, and TIMP-1 in 19 kidney-biopsy specimens with AL-amyloidosis and 8 specimens from normal kidney tissue. We used clinical data of the patients at the time of kidney biopsy to evaluate the association between MMP expression and renal function. RESULTS:We found increased MMP-1 and MMP-3 expression within the amyloid deposits and adjacent tissues in > 50% of the amyloid-positive biopsies, whereas MMP-1 and MMP-3 were negative in control samples. In contrast, we found no significant glomerular MMP-2 and TIMP-1 expression in amyloid-containing or normal kidneys. MMP-9 expression was found in the glomerular basement membrane equally in AL-amyloidosis and control specimens. The presence of MMP-1 and MMP-3 in the glomeruli of patients with AL-amyloidosis correlated with worse renal function at the time of kidney biopsy. CONCLUSION:The findings of this study show increased glomerular expression of MMP-1 and MMP-3 in patients with AL-amyloidosis which is associated with worse renal function at the time of the kidney biopsy. Our results suggest an important role for MMP-1 and MMP-3 in the pathogenesis of renal damage in AL-amyloidosis. 10.5414/CN108670
    Exceptional mucocutaneous manifestations with amyloid nephropathy: a case report. Yoon Se-Hee,Cho Jang-Hee,Jung Hee-Yeon,Hwang Won-Min,Yun Sung-Ro,Choi Ji-Young,Park Sun-Hee,Kim Chan-Duck,Kim Mee-Seon,Kim Yong-Lim Journal of medical case reports BACKGROUND:Amyloidosis is a very rare disease that is difficult to diagnose because of the unspecific early clinical manifestations of the disease. Accurate and early diagnosis is extremely important because the effect of treatment is dependent on the extent of disease progression. Sicca syndrome and nail dystrophy are very rare symptoms of amyloidosis. We report here a case of sicca syndrome and nail dystrophy with renal dysfunction in a 52-year-old Korean woman who was diagnosed as having systemic amyloidosis. CASE PRESENTATION:We present the case of a 52-year-old Korean woman complaining of dry mouth and nail dystrophy for 4 months as an initial symptom. A slit lamp examination revealed superficial keratoconjunctival erosion in both eyes. A laboratory test showed anemia, azotemia, and proteinuria. Urine protein electrophoresis showed increased gamma globulin excretion. Serum free light chain of kappa and lambda were increased. Histopathological studies of biopsy specimens of minor salivary glands and kidney revealed deposits of amyloid fibrils. A bone marrow aspiration biopsy showed hypercellular marrow with 5% plasma cells. She was diagnosed as having primary systemic amyloidosis then started on chemotherapy. CONCLUSION:Such atypical mucocutaneous manifestations of amyloidosis can serve as important early diagnostic signs with less invasive biopsy confirmation in patients with systemic amyloidosis. 10.1186/s13256-018-1760-6