Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
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Hereditary transthyretin amyloidosis (ATTR amyloidosis) is an autosomal dominant protein-folding disorder caused by over 100 distinct mutations in the transthyretin (TTR) gene. In ATTR amyloidosis, protein secreted from the liver aggregates and forms amyloid fibrils in downstream target organs, chiefly the heart and peripheral nervous system. ⋯ Here, we fully characterize six representative iPSC lines from a library of previously reprogrammed iPSC lines and reprogrammable blood samples derived from ATTR amyloidosis patients. This unique resource, described herein, can be harnessed to study diverse disorder.
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Prognosis of immunoglobulin light-chain (AL) amyloidosis depends mainly on the presence of cardiac involvement and the disease burden. A higher bone marrow plasma cell (BMPC) burden has been recognized as an adverse prognostic factor. The aim of our study was to analyze the correlation between the BMPC infiltration, clinical features and outcomes in patients with AL amyloidosis. ⋯ Higher BMPC infiltration in AL amyloidosis might be associated with increased systemic organ damage, particularly cardiac involvement and is rarely related to the development of myeloma features.
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Digoxin is considered contraindicated in light-chain (AL) amyloidosis, given reports of increased toxicity published 30-50 years ago. We sought to determine the frequency of digoxin toxicity in patients with AL. ⋯ Digoxin may be cautiously utilized in AL amyloidosis patients. We suggest its use in lower doses and frequent drug concentration monitoring along with close monitoring of electrolytes and renal function. Nonetheless, toxicity at low serum concentration cannot be excluded due to potential for toxic concentration at the tissue level and should be taken under consideration when prescribing digoxin for these patients. Studies with higher-level evidence are needed to confirm these findings.
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Clinical Trial
Psychopathological dimensions in subjects with hereditary ATTR V30M amyloidosis and their relation with life events due to the disease.
Chronic physical illness has been associated with emotional distress. Chronic diseases may change usual family patterns with economic, social and family losses. Hereditary ATTR V30M amyloidosis is a rare, fatal inherited systemic amyloidosis, with chronic evolution and beginning in adulthood. ⋯ Results point to an important vulnerability of this population for psychological distress and psychiatric disease. Early life events related to disease, being sick and sex are associated with psychopathological distress.
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Observational Study
Treatment patterns and health care resource utilization among patients with relapsed/refractory systemic light chain amyloidosis.
Treatment for patients with systemic light chain (AL) amyloidosis remains challenging. Our study aims to describe treatment patterns for both newly diagnosed and relapsed/refractory AL (RRAL) amyloidosis, and to assess clinical outcomes, healthcare costs, and resource utilization during the first year following a diagnosis of RRAL amyloidsis. ⋯ RRAL amyloidosis is associated with high morbidity from target organ failure and mortality, which emphasizes the need for novel medications to improve care for patients with RRAL amyloidosis.