Background Hereditary transthyretin amyloidosis is caused by pathogenic single-nucleotide
variants in the gene encoding transthyretin (TTR) that induce transthyretin misfolding and …

Transthyretin amyloidosis is a progressive and eventually fatal disease primarily
characterized by sensory, motor, and autonomic neuropathy and/or cardiomyopathy. Given its …

V122I is one of more than 130 mutations in transthyretin gene associated with hereditary
TTR (ATTRv) amyloidosis. Main clinical expression is an infiltrative pseudohypertrophic …

Background— Most studies of amyloidotic cardiomyopathy consider as a single entity the 3
main systemic cardiac amyloidoses: acquired monoclonal immunoglobulin light-chain (AL); …

Importance Familial amyloid polyneuropathy, a lethal genetic disease caused by aggregation
of variant transthyretin, induces progressive peripheral nerve deficits and disability. …

Background— Brain natriuretic peptide (BNP) is a marker of ventricular dysfunction and can
be used to assess prognosis in heart failure and after myocardial infarction. Heart …

Background Transthyretin amyloidosis, also called ATTR amyloidosis, is associated with
accumulation of ATTR amyloid deposits in the heart and commonly manifests as progressive …

Objective To evaluate the response to treatment of autoinflammatory diseases from an
international registry and an up-to-date literature review. Methods The response to treatment was …

The most efficient therapeutic approach for immunoglobulin light chain amyloidosis (AL) is
autologous stem cell transplantation (ASCT); however, the toxicity of ASCT limits its feasibility …

Background Familial Mediterranean fever, mevalonate kinase deficiency (also known as the
hyperimmunoglobulinemia D syndrome), and the tumor necrosis factor receptor–associated …