In the U.S., one-third of people with hereditary transthyretin amyloidosis (hATTR) — a group of disorders that includes familial amyloid polyneuropathy (FAP) — are diagnosed with carpal tunnel syndrome years before a hATTR diagnosis, a study indicated. This finding suggests that a history of carpal tunnel, a condition that affects…

Familial amyloid polyneuropathy (FAP) patients who carry the Val30Met mutation may experience central nervous system involvement early in the disease course, likely before symptoms are noticeable, according to a small study. Involvement of the central nervous system (CNS, the brain and spinal cord) follows a three-stage progression, its researchers…

A diagnosis of familial amyloid polyneuropathy (FAP) due to a mutation in the TTR gene was made in an older man from China, a country where the disease is not regularly found. The mutation, called Val30Met, is the most common cause of FAP in regions of the…

Small vesicles in the blood contribute to the clumping or aggregation, and toxic accumulation of the transthyretin (TTR) protein in people with familial amyloid polyneuropathy (FAP), a study shows. These findings shed light on the underlying mechanisms of FAP and point to these small blood vesicles, known as extracellular…

A skin biopsy may help speed up the diagnosis of familial amyloid polyneuropathy (FAP), including for asymptomatic people with disease-causing mutations who are at higher risk of developing full-blown disease, according to a single-center retrospective study. This would allow patients, especially those with the Val30Met mutation, to receive treatment…

The toxic transthyretin (TTR) clumps that form in people with familial amyloid polyneuropathy (FAP) caused by Val30Met, the most common disease-causing mutation, are structurally different in the eye and the heart, a study suggests. These findings highlight the structural variability of TTR clumps between organs, even when associated with…

An annual decline in sensory nerve function — one greater than 25% — occurs as long as two years before the onset of familial amyloid polyneuropathy (FAP) in people carrying Val30Met, the most common disease-causing mutation in FAP, a study shows. Such drops in function, as measured by non-invasive…

Chinese patients with hereditary transthyretin (ATTR) amyloidosis, also known as familial amyloid polyneuropathy (FAP), have highly variable genetic and clinical profiles, a retrospective study has found. Yet, according to study findings, Val30Met remains the most common genetic mutation associated with the disease in China. The study “Hereditary…

Long-term treatment with Vyndaqel (tafamidis) is safe and well-tolerated by patients with transthyretin familial amyloid polyneuropathy (TTR-FAP) caused by Val30Met and other mutations, but does not prevent progression of nerve damage, or neuropathy, in most patients, a three-year follow-up…

A review of 542 cases of hereditary transthyretin amyloid polyneuropathy (ATTR-PN) from more than 100 countries suggests that the clinical symptoms and geographical occurrence of the disease is more variable than described previously. The review study,“Epidemiological and clinical characteristics of symptomatic hereditary transthyretin amyloid polyneuropathy: a global case series,”…