Gly103Arg, a mutation in the TTR gene that has been exclusively reported in Chinese people, is associated with a familial amyloid polyneuropathy-like profile marked by eye and neurological involvement, according to a case report and literature review study. All three patients from a single family carrying the mutation had…
Combination therapy for hereditary transthyretin amyloidosis (hATTR), a group of conditions including familial amyloid polyneuropathy (FAP), appears to be safe, according to a retrospective study, but because its effects “on neurological symptoms could not be assessed,” more studies are needed to confirm its benefits, the researchers wrote. Most of…
A man carrying p.Val142Ile, a TTR gene mutation often linked to a condition related to familial amyloid polyneuropathy (FAP) but causing heart damage instead of nerve damage, developed FAP-like neurological symptoms and no heart involvement, a case report showed. “The particularly unusual [genetic profile-clinical profile] association distinguishes this case…
A new mutation in the TTR gene was identified as the cause of late-onset familial amyloid polyneuropathy (FAP) in an elderly man in Argentina, a small case study indicates. The case highlights “the importance of including FAP-TTR among early differential diagnosis in patients with presumably idiopathic [of uncertain cause]…
Two Italian brothers carrying V122I, a TTR gene mutation often linked to hereditary ATTR amyloidosis with cardiomyopathy (hATTR-CM), developed neurological symptoms that resembled familial amyloid polyneuropathy (FAP), with little or no heart involvement, a study shows. The cases add to the growing number of studies reporting symptoms of nerve…
Sudoscan, a commercial device that evaluates sweat gland function, might be a useful noninvasive tool to assess damage to small nerve fibers in people with familial amyloid polyneuropathy (FAP), a small study showed. Those small nerve fibers usually are affected in the early stages of the disease, leading to symptoms like…
Soleo Health, a U.S. national provider of pharmacy services, announced that Amvuttra (vutrisiran), an approved treatment for adults with familial amyloid polyneuropathy (FAP), has been added to its portfolio of specialty treatments. Amvuttra was developed by Alnylam Pharmaceuticals to treat FAP, also known as hereditary transthyretin-mediated (hATTR) amyloidosis with…