Clinical manifestations in hereditary amyloidosis with the variant Glu54Gln transthyretin.

Highlights from the article: All patients had positive family history, the average age at diagnosis was 46.5 years (excluding the 16-year-old carrier - the son of one of the patients), of which 5 male and 4 female patients. Onset symptoms were carpal tunnel syndrome (4 patients), peripheral neuropathy (all patients), diarrhoea (1 patient), constipation (2 patients), cardiac failure (4 patients) and weight loss (4 patients). The age at diagnosis in patients with transthyretin Glu54Gln hereditary amyloidosis is around 46, they have positive family history as well as a long personal history of axonal sensory-motor neuropathy with autonomic symptoms and restrictive cardiomyopathy.