News

Tests used to assess sensitivity to heat and cold may help diagnose patients with familial amyloid polyneuropathy (FAP) earlier as well as track their improvement after liver transplant, a case study suggests. The study, “Evidence of neurophysiological improvement of early manifestations of small-fiber dysfunction after liver transplantation in a…

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.”…

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…

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 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,”…