Patricia Inácio, PhD, science writer —

Variability in the onset and penetrance of TTR-related amyloidosis (ATTR) among members of the same family may be linked to the expression of different copies of the TTR gene throughout the aging process, a study suggests. The study, “Monoallelic expression of the TTR gene as a contributor to…

A review of 542 cases of hereditary transthyretin amyloid polyneuropathy (ATTR-PN) from more than 100 countries suggests that the clinical symptoms and geographical occurrence of the disease is more variable than described previously. The review study,“Epidemiological and clinical characteristics of symptomatic hereditary transthyretin amyloid polyneuropathy: a global case series,”…

Cardiac problems are the leading cause of death among transthyretin familial amyloid polyneuropathy (ATTR, also called FAP) patients who have had a liver transplant, according to a retrospective longitudinal study. The study, “Cause of death analysis and temporal trends in survival after liver transplantation for transthyretin familial amyloid polyneurophathy,”…

Early diagnosis and prompt treatment with Vyndaqel (tafamidis) may help halt neurological disease progression in familial amyloid polyneuropathy (FAP) patients who are positive for the Val30Met mutation, clinical analyses of three trials suggest. The study “Influence of baseline neurologic severity on disease progression and the associated disease-modifying effects of tafamidis…

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…

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.

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 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…

Treatment with 20 mg a day of oral Vyndaqel (tafamidis) is enough for the therapy to reach the central nervous system (CNS) and eyes of familial amyloid polyneuropathy (FAP) patients with a Val30Met mutation, a small study from Portugal found. Results also showed the treatment was associated with…

A Phase 3 trial testing patisiran as a therapy for hereditary ATTR amyloidosis with polyneuropathy (also called familial amyloid polyneuropathy, or FAP), showed treatment with patisiran safely improved many symptoms as well as patients’ quality of life. The full results have been published in The New England…