Showing papers on "Primary systemic amyloidosis published in 2020"
TL;DR: Amyloidosis is an uncommon finding in patients with multiple myeloma, especially in younger individuals, particularly in youngerindividuals with initial symptoms of multiple organ system failure.
6 citations
21 Sep 2020
TL;DR: Amyloid myopathy may be clinically indistinguishable from IBM and Muscle biopsies in all 4 cases showed perivascular amyloid deposits, which is of critical importance in the evaluation of patients suspected to have IBM.
Abstract: Introduction: Amyloid myopathy is a rare presentation of systemic amyloidosis. Amyloid myopathy can be initially misdiagnosed as sporadic inclusion body myositis (IBM).
Methods: We report 4 cases of amyloid myopathy clinically mimicking inclusion body myositis and initially thought to be phenotypically IBM by neuromuscular experts.
Results: Case 1 is an 81-year-old woman who presented with distal arm and proximal leg asymmetric weakness (myopathy pattern 4). Case 2 is a 76-year-old man with primary systemic amyloidosis who presented with myopathy pattern 4 and progressive dysphagia for four years. Case 3 is an 82-year-old man with progressive myopathy pattern 4 weakness and swallowing difficulty. Case 4 is a 62-year-old man with progressive bilateral finger flexor weakness. Muscle biopsies in all 4 cases showed perivascular amyloid deposits
Discussion: Amyloid myopathy may be clinically indistinguishable from IBM. Muscle biopsy is of critical importance in the evaluation of patients suspected to have IBM.
4 citations
TL;DR: OS improved in this high-risk group of patients with AL amyloidosis over the years, especially after introduction of new treatment modalities, however, early death rate remains high, illustrating the need for more effective treatment.
Abstract: Objective: To study the outcome of patients with AL amyloidosis who were ineligible for high dose melphalan (HDM) and autologous stem cell transplantation (ASCT).Methods: A real-life retrospective observational cohort study of Dutch patients with AL amyloidosis ineligible for HDM and ASCT was performed at the University Medical Center Groningen from January 2001 until April 2017. Primary outcome measure was overall survival (OS). Secondary outcome measures were hematological response (HR), organ responses, and treatment toxicity.Results: Eighty-four patients were included. Ineligibility was due to NYHA class III/IV (n = 58), otherwise advanced disease (n = 11), advanced age (n = 14), or treatment refusal (n = 1). Early death (<3 months) rate was high (44%). Median OS improved from 4 months in period 2001-2009 (n = 36) to 8 months in period 2009-2017 (n = 48, p = .02). HR was seen in 29%, and 42% of the patients, respectively. Median OS was 36 months after induction treatment with bortezomib (n = 32) and 18 months with immunomodulatory imide drug (IMID) (n = 16), both higher than median OS (7 months) with other regimens (n = 27). Incidence of toxicity was high (51%).Conclusion: OS improved in this high-risk group over the years, especially after introduction of new treatment modalities. However, early death rate remains high, illustrating the need for more effective treatment.
2 citations
TL;DR: A 35-year old man with a case of primary localized conjunctival amyloidosis presented with corneal whorl-like opacity patterns and underwent Conjunctival and limbal biopsies, ruling out gelatinous drop-like cornean dystrophy.
Abstract: Purpose To report an unusual case of corneal whorl-like opacity patterns in a patient of primary localized conjunctival amyloidosis. Methods Case report and review of literature. Results A 35-year old man with a case of primary localized conjunctival amyloidosis presented with corneal whorl-like opacity patterns and underwent conjunctival and limbal biopsies. Histopathological evaluation showed dense deposition of amorphous, hyaline, eosinophilic material with week periodic acid-Schiff positivity and congophilia on congo red stain. There was birefringence under a polarized microscope. These findings were suggestive of amyloid deposition. tumor-associated calcium signal transducer-2 mutation was negative ruling out gelatinous drop-like corneal dystrophy. Systemic evaluation was negative for primary systemic amyloidosis. A diagnosis of primary localized conjunctival amyloidosis with corneal whorl-like opacity patterns was confirmed. Conclusions This is an unusual case report of primary localized conjunctival amyloidosis, presenting as corneal whorl-like opacity patterns. Primary localized conjunctival amyloidosis usually involves the fornix and then spreads to lids causing lid thickening, blepharoptosis, subconjunctival, or orbital mass. In our case, it probably started around limbus, involving palisades of Vogt and caused corneal whorl-like opacity patterns which were the presenting feature.
1 citations
TL;DR: The case of a 53-year-old man’s death due to unsuspected, undiagnosed AL predominantly involving the myocardium has been reported, demonstrating that amyloidosis should be considered within the differential diagnoses and actively investigated in patients with unspecific and long-lasting symptoms.
Abstract: Amyloidosis is characterized by deposition of insoluble fibrillar proteins in organs and tissues. The prognosis depends on where in the body amyloid deposition occurs, the amount of deposition, and the symptoms, which are often unspecific. Cardiac involvement is commonly associated with the immunoglobulin light-chain amyloidosis (AL) and may lead to sudden death. The case of a 53-year-old man's death due to unsuspected, undiagnosed AL predominantly involving the myocardium has been reported. His medical history had begun with gastroenterological symptoms. Angina pectoris and brain stroke occurred in the following years. He died after two years during the surgical implantation of a cardioverter-defibrillator because of cardiogenic shock. Post-mortem histologic examination revealed the presence of amyloid material in the lymph nodes, lungs, liver, spleen, kidneys, adrenal glands, stomach, and heart. The cause of death was cardiac failure secondary to primary systemic amyloidosis predominantly involving the heart. This case demonstrates that amyloidosis should be considered within the differential diagnoses and actively investigated in patients with unspecific and long-lasting symptoms; medical liability may also be suspected.
1 citations
TL;DR: Skin involvement presenting as cutaneous amyloidosis could be the first manifestation of Waldenstrom macroglobulinemia, a lymphoplasmacytic lymphoma with elevated serum immunoglobulin M and multi-organ involvement.
Abstract: Background Waldenstrom macroglobulinemia is a lymphoplasmacytic lymphoma with elevated serum immunoglobulin M and multi-organ involvement. Primary systemic amyloidosis usually develops due to immunoglobulin light chains depositions in different organs due to an underlying gammopathy. Case presentation Our patient was an 86-year-old man with macroglossia, ecchymotic patches and bullous lesions associated with a skin laxity on the periorbital, palmar, and glans penis areas. Skin biopsy confirmed dermal amyloid depositions. In serum immunofixation electrophoresis, prominent monoclonal immunoglobulin-M lambda light chains were detected associated with prominent lymphoplasmacytic infiltration in bone marrow biopsy which was diagnosed as Waldenstrom macroglobulinemia. Conclusion Skin involvement presenting as cutaneous amyloidosis could be the first manifestation of Waldenstrom macroglobulinemia. We should think about an underlying gammopathy in an old patient with skin laxity and ecchymosis.
1 citations
12 Jun 2020
TL;DR: The clinical case of systemic amyloidosis with damage to the stomach, liver and other organs was discussed and the differential diagnosis was carried out with tuberculosis, cancer, cirrhosis.
Abstract: Amyloidosis combines diseases that are characterized by extracellular deposition of a specific insoluble fibrillar amyloid protein The prevalence of amyloidosis is an average of 10 cases per 100 thousand people The clinic of the disease is polymorphic and depends on the organ with amyloid deposition The article discusses the clinical case of systemic amyloidosis with damage to the stomach, liver and other organs The differential diagnosis was carried out with tuberculosis, cancer, cirrhosis The final diagnosis was made by histological examination of biopsy samples of the liver and stomach Difficulties in diagnosing primary amyloidosis are due to the attrition and non‑specificity of the clinical picture of the disease Amyloidosis is diagnosed based on organ biopsy data