Misdiagnoses of transthyretin amyloidosis: a clinical and electrodiagnostic study

Misdiagnoses of transthyretin amyloidosis: a clinical and electrodiagnostic study

Background Misdiagnosis of ATTR and late diagnosis may be detrimental hampering adequate management and delaying therapy onset. Objective of the present study was to investigate in a large single-centre cohort of genetically– confirmed ATTR patients the prevalence, type and causes of misdiagnoses. Given the high frequency of cases erroneously diagnosed as having chronic inflammatory demyelinati...

A Guide to Transthyretin Amyloidosis

Effects of Tafamidis on Transthyretin Stabilization and Clinical Outcomes in Patients with Non-Val30Met Transthyretin Amyloidosis

This phase II, open-label, single-treatment arm study evaluated the pharmacodynamics, efficacy, and safety of tafamidis in patients with non-Val30Met transthyretin (TTR) amyloidosis. Twenty-one patients with eight different non-Val30Met mutations received 20 mg QD of tafamidis meglumine for 12 months. The primary outcome, TTR stabilization at Week 6, was achieved in 18 (94.7%) of 19 patients wi...

Liver transplantation and transthyretin amyloidosis.

Liver transplantation as a specific treatment of transthyretin amyloidosis was first performed in 1990. The rationale for this treatment was that removal of the source (liver) of the amyloid precursor protein (mutated transthyretin) would stop progression of the disease. Indeed, after orthotopic liver transplantation (OLT), mutant transthyretin (TTR) is rapidly cleared from circulation. In the ...

Transthyretin amyloidosis and the kidney.

The amyloidoses are protein-misfolding disorders associated with progressive organ dysfunction. Immunoglobulin light chain is the most common, amyloid A the longest recognized, and transthyretin-associated amyloidosis (ATTR) the most frequent inherited systemic form. Although ATTR, an autosomal-dominant disease, is associated with at least 100 different transthyretin (TTR) mutations, the single...