Treatment with Vyndaqel (tafamidis) or liver transplant can significantly improve the long-term outcome of patients with familial amyloid polyneuropathy (FAP) due to a common TTR mutation, researchers reported. FAP, also known as transthyretin-related hereditary amyloidosis (hATTR), is a rare disease caused by genetic mutations in the…
Researchers reported a rare case of familial amyloid polyneuropathy (FAP) in a patient with TRR gene Val30Met mutation who was experiencing impaired upper limb sensation and numbness. The case was described in “A Val30Met sporadic familial amyloid polyneuropathy case with atypical presentation: upper limb onset of…
Blood vessel abnormalities in the eye’s structures are common features in patients with familial amyloid polyneuropathy (FAP) caused by the Val30Met genetic mutation, according to researchers. Their study, “Angiographic signatures of the predominant form of familial transthyretin amyloidosis (Val30Met mutation),” was published in the American…
Vyndaqel (tafamidis) failed to prevent the progressive accumulation of abnormal transthyretin protein in a patient with a rare variant of familial amyloid polineuropahy (FAP), also known as transthyretin amyloidosis, according to a case report. The case was reported in the study, “Failure of Tafamidis to Halt Progression…
Familial amyloid polyneuropathy (FAP) is linked to important alterations of the autonomic nervous system, which regulates certain body processes such as breathing, heart rate, and digestion, according to researchers. This finding resulted from a study led by Alejandra Gonzalez‑Duarte, a neurologist at the Salvador Zubirán National Institute of Medical…
Ionis Pharmaceuticals’ inotersen (IONIS-TTR Rx) continues to demonstrate sustained, long-term benefit for patients with familial amyloid polyneuropathy (FAP), also known as hereditary ATTR (hATTR) amyloidosis. Recent positive results of a study were the subject of several presentations at the 16th International Symposium on Amyloidosis (ISA) being held March…
Researchers suggest that guidelines and standardized protocols are needed to evaluate the autonomic nervous system — which regulates certain body processes such as such as breathing, heartbeat, and digestion — in the development of familial amyloid polyneuropathy (FAP). FAP, also known as hereditary transthyretin amyloidosis (hATTR), is a progressive disorder…
Researchers have found that imaging contrast agent MIBG can help detect early nerve cell damage affecting the heart before serious tissue damage and cardiac impairment in patients with familial amyloid polyneuropathy (FAP). The agent may have early diagnostic value for these patients. This finding was reported in a study…
Changes in the way that people with a certain gene mutation walk could help doctors make an early determination that they have a neurodegenerative condition known as familial amyloid polyneuropathy, a study reports. A TTR mutation is a hallmark of transthyretin familial amyloid polyneuropathy, one of a number of versions of familial amyloid polyneuropathy. The…
The artificial induction of joint ossification, or surgical arthrodesis, is a safe and effective option to treat patients with rare knee structural deformities due to Charcot neuroarthropathy secondary to familial amyloid polyneuropathy (FAP), according to a case report. FAP represents a heterogeneous group of hereditary diseases caused by…