Narrowing of the spinal canal due to a buildup of proteins — transthyretin (TTR) amyloid deposits — was reported in a rare case of familial amyloid polyneuropathy (FAP). The case was described by researchers from the U.K. in the study, “Spinal Stenosis in Familial Transthyretin Amyloidosis,” published…
Eye problems due to transthyretin (TTR) deposition are more prevalent among patients who have had hereditary amyloidosis for longer periods of time and have undergone liver transplants, a large-scale study shows. The study, “Transthyretin deposition in the eye in the era of effective therapy for hereditary ATTRV30M…
Treatment with Vyndaqel (tafamidis) is a safe, non-invasive way to delay neurologic progression of transthyretin familial amyloid polyneuropathy (TTR-FAP), and preserves patients’ nutritional status and quality of life, a review study shows. The study, “Tafamidis, a Noninvasive Therapy for Delaying Transthyretin Familial Amyloid Polyneuropathy: Systematic Review…
Length of naturally occurring repeats in the sequence of the ATXN2 gene may affect the age of onset of transthyretin (TTR)-related familial amyloid polyneuropathy (FAP). The study, “Large normal alleles of ATXN2 decrease age-at-onset in TTRFAP Val30Met patients,” was published in the journal Annals of Neurology.
Prices for Tegsedi (inotersen) and Onpattro (patisiran) far exceed thresholds for cost-effectiveness, despite their likely health benefits to people with hereditary transthyretin amyloidosis (hATTR) and their families, a report by a nonprofit group that analyzes U.S. treatment costs states. It recommended that the pharmaceutical companies marketing…
The rare case of a patient in Italy who had familial amyloid poyneuropathy (FAP) in addition to mitochondrial disease was described in a report published in the journal Amyloid. The report was titled “Progressive axonal polyneuropathy in a mitochondrial disorder: an uncommon association with familial amyloid neuropathy.”…
A noninvasive evaluation of the response of skin blood vessels to a vasodilator compound can help detect the extent of nerve cell damage in patients with familial amyloid polyneuropathy (FAP), researchers suggest. This finding was reported in the study, “Axon reflex–mediated vasodilation is reduced in proportion to…
Evaluating the activity of sweat glands provides valuable information to assess peripheral nerve cell damage and help diagnose nerve diseases known as peripheral neuropathies, which includes familial amyloid polyneuropathy (FAP), a study reports. In particular, in comparing different approaches, researchers found that Impeto Medical’s noninvasive device Sudoscan appeared to…
Next-generation sequencing to analyze a panel of 11 specific genes may facilitate the diagnosis of amyloidosis, including familial amyloid polyneuropathy (FAP), according to researchers from the Czech Republic. The new approach was described in the study, “Newly designed 11-gene panel reveals first case of hereditary amyloidosis…
Researchers have reported the case of a Portuguese man with late-onset familial amyloid polyneuropathy (FAP) and a rare combination of heart failure with a severe accumulation of fluids in the abdominal cavity. The case report, “Val30Met Familial Amyloid Polyneuropathy, Heart Failure, and Chylous Ascites: An Unexpected…