Systemic amyloidosis: unusual presentation mistaken for a recurrent scabies infection.
Haley Erin M,Nabatian Adam S,Kopp Sandra A,Falasca Gerald F,Haupt Helen M,Halpern Analisa V
Cutis
We report the case of a 63-year-old woman with a history of undifferentiated connective-tissue disease, polyarthritis, and bilateral carpal tunnel syndrome who presented with generalized pruritus and erythematous and excoriated papules on the trunk and extremities. Empiric scabies treatment was unsuccessful. Patch testing and T-cell receptor gene rearrangement studies were unremarkable. The patient was found to have mild interstitial lung disease and hypogammaglobulinemia. Eventually a diagnosis of primary systemic amyloidosis was made after she developed frank lingual hypertrophy despite normal initial serum protein electrophoresis and negative abdominal fat pad aspiration. Diagnosis was confirmed with lingual biopsy. This case demonstrates an unusual presentation of primary systemic amyloidosis consisting of arthritis and intense debilitating pruritus without primary skin lesions for a full year prior to diagnosis of multiple myeloma. The patient responded to treatment with chemotherapy and corticosteroids.
Amyloid localized to tenosynovium at carpal tunnel release. Natural history of 124 cases.
Kyle R A,Eilers S G,Linscheid R L,Gaffey T A
American journal of clinical pathology
One hundred fifty-two patients with amyloid in the tenosynovium who had carpal tunnel release were identified. Twenty-eight patients were excluded because of systemic amyloidosis: primary systemic amyloidosis (AL) in 24, secondary amyloidosis (AA) in 3, and familial amyloidosis (AF) in 1. The remaining 124 patients (82%) had carpal tunnel syndrome with local deposition of amyloid and no evidence of systemic amyloidosis. Median survival of the 124 patients from diagnosis of amyloidosis was 12 years. Only two patients had systemic amyloidosis develop--9 and 10 years after recognition of tenosynovial amyloid. Of particular interest were 12 patients who had an M-protein in the serum or urine. None of the 12 patients have had evidence of systemic amyloidosis or multiple myeloma during the median follow-up of 14 years. The authors conclude that amyloid may be localized to the tenosynovium and that systemic amyloidosis rarely develops during long-term follow-up.
10.1093/ajcp/91.4.393
Combined bilateral submandibular and sublingual swelling, macroglossus, and carpal tunnel syndrome caused by light chain amyloidosis.
Jønsson V,Rasmussen N,Juhl B R,Gimsing P,Vorstrup S
Ear, nose, & throat journal
Three cases of light chain kappa amyloidosis in multiple myeloma patients are described with remarkable involvement of the tongue and swelling of the sublingual and submandibular regions, and without signs of nephropathy despite Bence Jones kappa proteinuria. All three patients had carpal tunnel syndrome at the beginning of their disease course and only moderate gastrointestinal involvement. Primarily for prognostic reasons, amyloidosis should be suspected in such cases, even in the presence of these highly unusual manifestations, and the diagnosis should be confirmed by unambigously-positive biopsies.
[Amyloidosis in the course of multiple myeloma].
Mazur Grzegorz,Usnarska-Zubkiewicz Lidia,Wróbel Tomasz,Biedroń Monika,Nowicka Jadwiga,Ganczarski Grzegorz,Kuliczkowski Kazimierz
Polskie Archiwum Medycyny Wewnetrznej
The amyloidoses are group of heterogeneous disorders, in which synthesized and secreted proteins, as a soluble molecules, are formed into insoluble, fibrillar tissue deposits, leading to organ dysfunction. Classification now is based on the chemical nature of the fibrillar component of the deposits. One of these is light-chain amyloidosis (AL). The aim of the study was to describe of multiple myeloma patients and amyloidosis. The study group consisted of 45 patients (16 men and 29 women). The diagnosis was made by fine-needle aspiration of subcutaneous fat and then staining the tissue with Congo red. We also analyse the concentration of the serum SAA. We analyse the most characteristic features of AL as hearth failure, proteinuria, renal failure, carpal tunnel syndrome, hepatosplenomegaly, macroglossia and orthostatic hypotension. Among the multiple myeloma patients we found 17 with AL amyloid and 35 persons with elevated concentration of the serum SAA. The most frequent symptoms were related with renal failure and heart failure.
An unusual presentation of multiple myeloma: a case report.
Molloy Catherine B,Peck Rahul A,Bonny Stephen J,Jowitt Simon N,Denton John,Freemont Anthony J,Ismail Abbas A
Journal of medical case reports
Multiple myeloma can occasionally manifest with joint disease. We report the case of an individual with a progressive bilateral carpal syndrome and a symmetrical severe seronegative polyarthritis and joint swelling. Investigations revealed an erosive seronegative inflammatory arthritis in association with bilateral carpal tunnel syndrome, anaemia, hepatic impairment and nephrotic-range proteinuria. Synovial fluid cytology demonstrated plasmablasts and multinucleated cells with products of chondrolysis. The diagnosis of multiple myeloma (with secondary amyloidosis) was made on serum protein electrophoresis and bone marrow biopsy.The relationship between myeloma and joint disease is discussed, highlighted by the presence in this case of all three pathogenic features associated with arthritis in myeloma patients- an erosive arthritis, carpal tunnel syndrome and an invasive tumoural arthritis.
10.1186/1752-1947-1-84
[Amyloidosis despite normal ESR].
Kuipers S M,de Groot L,Zijlstra T R,Köster N C,van der Bijl A E
Nederlands tijdschrift voor geneeskunde
BACKGROUND:Amyloidosis is a clinical picture brought on by extracellular deposits of insoluble, non-degradable proteins. The clinical presentation of amyloidosis depends upon the type of protein and the organ afflicted. CASE DESCRIPTION:A 65-year-old woman had stiffness of the locomotor apparatus, recurrent carpal tunnel syndrome and problems with swallowing. Laboratory and urine investigations initially showed no abnormalities, but histopathological investigation of a synovial biopsy revealed amyloidosis with light-chain deposits. This turned out to be due to multiple myeloma. CONCLUSION:Amyloidosis can present with atypical symptoms, such as stiffness. Normal erythrocyte sedimentation rate (ESR) and normal urine analysis do not exclude this diagnosis. When there are clinical indications of amyloidosis further analysis for free-light chains should be performed, even when ESR is normal.
Primary systemic amyloidosis, acquired cutis laxa and cutaneous mucinosis in a patient with multiple myeloma.
Lavorato Fernanda Guedes,Alves Maria de Fátima Guimarães Scotelaro,Maceira Juan Manuel Piñeiro,Unterstell Natasha,Serpa Laura Araújo,Azulay-Abulafia Luna
Anais brasileiros de dermatologia
A 57-year-old woman presented with periorbital ecchymoses, laxity in skin folds, polyneuropathy and bilateral carpal tunnel syndrome. A skin biopsy of the axillary lesion demonstrated fragmentation of elastic fibers, but with a negative von Kossa stain, consistent with cutis laxa. The diagnosis of primary systemic amyloidosis was made by the presence of amyloid material in the eyelid using histopathological techniques, besides this, the patient was also diagnosed with purpura, polyneuropathy, bilateral carpal tunnel syndrome and monoclonal gammopathy. She was diagnosed as suffering from multiple myeloma based on the finding of 40% plasma cells in the bone marrow, component M in the urine and anemia. The patient developed blisters with a clear content, confirmed as mucinosis by the histopathological exam. The final diagnoses were: primary systemic amyloidosis, acquired cutis laxa and mucinosis, all related to multiple myeloma.
10.1590/abd1806-4841.20132531
Amyloid arthropathy associated with multiple myeloma: a systematic analysis of 101 reported cases.
Elsaman Ahmed M,Radwan Ahmed R,Akmatov Manas K,Della Beffa Cristina,Walker Alisha,Mayer Christian T,Dai Lie,Nativ Simona,Rygg Marite,Atsali Erato,Saijo Kaoru,Ogdie Alexis R,Srinivasulu Nagaraj,Fathi Nihal,Schumacher H Ralph,Pessler Frank
Seminars in arthritis and rheumatism
OBJECTIVE:Amyloid deposition in multiple myeloma (MM) may lead to an arthropathy resembling rheumatoid arthritis (RA). Since a systematic description of its natural history is lacking, we have performed a systematic analysis of all published cases. METHODS:Literature review featuring backward and forward database searches and direct inspection of reference lists. Inclusion criteria were as follows: publication between 1931 and 2012, diagnosis of multiple myeloma, and demonstration of light chain amyloid (AL) in any organ or in synovial fluid, arthritis, or synovitis. RESULTS:Overall, 101 cases were identified. Median age was 59 years and the male-to-female ratio was 1:1. A systemic manifestation of MM was reported in 88 cases. In 53 of these, characteristic physical findings (carpal tunnel syndrome, macroglossia, shoulder pad, and soft tissue swelling/masses) were present. Arthritis manifested before the diagnosis of MM in 63 cases, with 33 cases initially misdiagnosed as RA. There were 72 cases of poly-, 17 of oligo-, and three of monoarthritis. The shoulder joint was most commonly affected, followed by knees and small hand joints. Median synovial fluid leukocyte count was 2460 cells/mm(3), and was normal in seven cases. Synovial histopathology often featured mild synovitis without plasma cell infiltration. Imaging revealed articular or periarticular inflammation in many cases and bone lesions near 22% of affected joints. Treatments varied but led to some improvement in the majority of cases. CONCLUSIONS:These results solidify previous experience that MM arthropathy tends to feature a symmetric RF-negative nonerosive polyarthritis. However, the results also highlight the diversity of its presentations and stress the importance of arthropathy as a potentially under-recognized presenting manifestation of MM.
10.1016/j.semarthrit.2013.07.004
[Multiple myeloma diagnosed due to development of amyloid arthritis].
Yamada Shinya,Takahashi Wakana,Maruyama Hiroyuki,Mochizuki Kanako,Yoshida Akiyo,Kaya Hiroyasu,Okumura Hirokazu
[Rinsho ketsueki] The Japanese journal of clinical hematology
Here, we present the case of a 72-year-old male who presented with swelling, stiffness, and dysesthesia in the bilateral fingers, wrists, and ankles. Although rheumatoid arthritis was initially suspected, laboratory tests were negative for rheumatoid factor (RF) and anti-cyclic citrullinated peptide (CCP) antibody. Based on the findings of immune globulin G (IgG)-λ M proteins and 26% plasma cells in the bone marrow, multiple myeloma was diagnosed. Joint sonography revealed thickening of the tendon synovial sheaths around the bilateral wrist joints, palmar flexor tendon sheaths, and extensor digitorum tendon sheaths, and magnetic resonance imaging (MRI) revealed soft tissue masses around the bilateral hip joints. Carpal tunnel syndrome associated with amyloid arthritis was suspected. Amyloid deposits were observed in synovectomy specimens, and the patient was then diagnosed with amyloid arthritis. He had concurrent pulmonary fibrosis, and treatment with lenalidomide/dexamethasone (Ld therapy) was initiated. The symptoms in the bilateral fingers, wrists, and ankles improved with the treatment course, and joint sonography revealed that thickening of tendon sheath and soft tissue masses disappeared after seven courses of Ld therapy. However, MRI still revealed soft tissue masses around the bilateral hip joints. In patients with joint symptoms that do not fulfill the diagnostic criteria for rheumatoid arthritis, differentiation with amyloid arthritis is necessary.
10.11406/rinketsu.60.791
Radiologic Findings in Polyarticular Amyloid Arthropathy and Myopathy in Multiple Myeloma: A Case Report.
Khoo Hau Wei,Ding Cristine S L,Tandon Ankit Anil
The American journal of case reports
BACKGROUND Amyloid arthropathy and myopathy are complications of amyloidosis that can be associated with non-specific imaging findings, which may be challenging to interpret. The report is of a case of polyarticular amyloid arthropathy and myopathy in a 56-year-old man with multiple myeloma and includes a description of the radiographic, computed tomography (CT), and magnetic resonance imaging (MRI) findings. CASE REPORT A 56-year-old man with multiple myeloma presented with chronic polyarticular pain and swelling. Soft tissue thickening of the wrist and knee were found on MRI to be of intermediate T1 weighted imaging (T1WI) and low to intermediate T2 weighted imaging (T2WI) signal intensity. Denervation muscle edema seen in the thenar muscles on the MRI of the right wrist were associated with carpal tunnel syndrome secondary to amyloid deposition. Soft tissue lesions in the periarticular regions of both hip joints were contiguous with subchondral bone lesions. Diffusely scattered myeloma lesions were shown as hyperintense on short tau inversion recovery (STIR) MRI imaging throughout the appendicular and axial skeleton, with vertebral compression fractures. Bilateral iliopsoas involvement with hypertrophy and abnormal surrounding fat reticulated signal intensity was consistent with amyloid myopathy. The patient had a pathological fracture of the right femoral neck and underwent surgical fixation. Histology of the right femoral head confirmed amyloid deposits. CONCLUSIONS Because the clinical presentation and imaging findings of musculoskeletal amyloidosis can be nonspecific, they can result in delay in diagnosis and treatment. Early radiologic identification of polyarticular amyloid arthropathy and myopathy should prompt confirmatory biopsy to confirm the diagnosis.
10.12659/AJCR.911212
[Thalidomide induced peripheral neuropathy in multiple myeloma patients].
Banach Marta,Jurczyszyn Artur,Skotnicki Aleksander
Przeglad lekarski
INTRODUCTION:Thalidomide, a sedative popular in the 1950s and withdrawn from the market in the 1960s because of its teratogenic effects, has emerged again on the market in the last decade as an effective agent in the treatment of multiple myeloma. Unfortunately, apart from positive treatment effects, numerous side effects have been shown in multiple myeloma patients, including drug-induced damage to peripheral nerves, leading to clinical neuropathy. OBJECTIVES:A clinical and electrophysiological assessment of the prevalence of peripheral neuropathy in patients with multiple myeloma treated with thalidomide. PATIENTS AND METHODS:The study included 43 patients (19 women and 24 men) with a clinical diagnosis of multiple myeloma and treated with thalidomide (average dose, 100 mg/d). Patients with a history of disorders or the presence of factors leading to nervous system damage were excluded from the study. An electrophysiological assessment of motor and sensory fibers of the median, ulnar, peroneal, and tibial nerves was performed. RESULTS:Polyneuropathy was present in 27 patients. In addition, carpal tunnel syndrome coexisting with polyneuropathy was observed in 6 patients. Carpal tunnel syndrome was reported in 4 patients. Moreover, supracondylar damage to the ulnar nerve was reported in 1 patient and Guyon syndrome--in 1 patient. The results of the electrophysiological study were normal in 10 patients. CONCLUSIONS:Our study showed that over 60% of patients treated with thalidomide have peripheral nerve changes typical for peripheral neuropathy. Owing to the high risk of peripheral neuropathy in patients treated with thalidomide, we recommend a routine electrophysiological study in all patients with multiple myeloma in order to diagnose neuropathy at an early stage. Dose reduction or the use of an equally effective but less neurotoxic drug allows to prevent polyneuropathy, while maintaining the basic parameters of cancer treatment.