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.”…
Treatment with somatostatin analogues helps to ease the symptoms of difficult-to-treat diarrhea associated with familial amyloid polyneuropathy (FAP), a two-year pilot study suggests. The medicines, however, were linked to severe though treatable side effects in three of the 14 patients. Larger and randomized trials are…
Portugal has the highest prevalence of transthyretin familial amyloid polyneuropathy (TTR-FAP) to date, although the number of new cases is decreasing, data from a national epidemiological study shows. Cases of late-onset disease are also increasing, with more patients developing their first symptoms at the age of 50 or older.
The effect of the familial amyloid polyneuropathy (FAP) hallmark protein transthyretin (TTR) on cells is associated with its specific three-dimensional shape, according to Italian researchers. Their study, “A FTIR microspectroscopy study of the structural and biochemical perturbations induced by natively folded and aggregated transthyretin in HL-1…
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…
Sudoscan and Neuropad, tests that assess sweat gland function, are effective at diagnosing familial amyloid polyneuropathy (FAP) and assessing small nerve fiber damage, according to researchers. Their study, “Assessment of autonomic innervation of the foot in familial amyloid polyneuropathy,” was published in the European Journal of Neurology.
The considerable burden of both living with transthyretin amyloidosis (ATTR) and caring for someone with the disease affects the mental and physical health of patients and caregivers alike, and — especially among those in the U.S. — can hurt their ability to be productive at work, according to a study…
The U.S. Food and Drug Administration (FDA) has approved Alnylam Pharmaceuticals’ Onpattro (patisiran) as the first-ever treatment for patients in the U.S. with familial amyloid polyneuropathy (FAP). “Today’s historic approval marks the arrival of a first-of-its kind treatment option for a rare and devastating condition with limited treatment options,”…
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…
The hereditary nature of familial amyloid polyneuropathy (FAP), along with the severity and unpredictability of the disease, highlights the risk for great psychological stress among FAP patients and their family members, a recent study from Portugal suggests. Management of the disease, especially in FAP linked to the Val30Met mutation, needs…