There is a high prevalence of the Val30Met (V30M) TTR gene mutation — the most common mutation associated with familial amyloid polyneuropathy (FAP) and other forms of hereditary transthyretin amyloidosis (ATTRv) — in Spain’s Balearic Islands, according to a new report by scientists in the region. The scientists believe…
Specialists in Scandinavia have updated the Kumamoto scale, a tool long used to monitor the progression of hereditary transthyretin amyloidosis (ATTRv), a group of diseases that includes familial amyloid polyneuropathy (FAP). The revised scale introduces clearer definitions and more precise scoring for symptoms and organ involvement, while still being practical…
People with early-stage familial amyloid polyneuropathy (FAP) cost society more than twice as much as symptom-free carriers of disease-causing genetic mutations, largely due to higher medical needs and lost productivity at work, according to a study in Spain. “Not only early-stage [FAP] patients, but also asymptomatic carriers, are generating…
Early genetic screening for people with unexplained nerve damage, or neuropathy, may help uncover undiagnosed cases of familial amyloid polyneuropathy (FAP), allowing faster access to treatment. In a study from France, 1% of 400 adults with neuropathy of unknown origin were found to have a FAP-causing mutation, even…
A Phase 3 clinical trial testing Intellia Therapeutics’ gene-editing therapy nexiguran ziclumeran (nex-z) in adults with familial amyloid neuropathy (FAP) is ahead of its planned enrollment schedule, with recruitment now expected to be completed in the first half of 2026. That’s according to a press release from…
Using a small sample of tissue from skin — obtained via a skin biopsy — can help diagnose familial amyloid polyneuropathy (FAP) early by looking for the presence of disease-causing toxic amyloid deposits and measuring the number of small nerve fibers in the outermost layer of a person’s skin.
Kidney disease is an underrecognized complication of hereditary transthyretin amyloidosis (ATTRv) — a group of diseases that includes familial amyloid polyneuropathy (FAP) — but may be effectively controlled with a class of medications known as siRNA therapies, among them Onpattro (patisiran) and Amvuttra (vutrisiran). That’s according to an observational study,…
Neuropathy, or nerve-related pain, is more prevalent than previously reported in people with the V142I mutation of hereditary transthyretin amyloidosis (ATTRv), a study found. Familial amyloid polyneuropathy (FAP), a clinical form of ATTRv, typically involves progressive nerve damage. V142I, the most common ATTRv mutation in the U.S., has traditionally…
Among people carrying Val30Met (V30M), the most common cause of familial amyloid polyneuropathy (FAP), those experiencing symptoms have significantly higher blood levels of inflammation markers than those without signs of the rare inherited disease, a study showed. Symptomatic carriers were also found to have higher activity of neutrophils, a…
Familial amyloid neuropathy (FAP) caused by a mutation in the TTR gene called Ala97Ser is associated with a later onset of symptoms, which most commonly involve numbness in the feet or hands. That’s according to new data from 21 Ala97Ser-associated FAP cases in mainland China, compiled in the largest…