April 10, 2017 E-Pearl of the Week: Transthyretin familial amyloid polyneuropathy

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April 10, 2017

Transthyretin familial amyloid polyneuropathy

Transthyretin familial amyloid polyneuropathy, caused by an autosomal dominant mutation in the transthyretin gene, is characterized by severe, rapidly progressive sensorimotor polyneuropathy. Autonomic involvement causes wasting and cachexia from malabsorption.2 Death occurs approximately 10 years after symptom onset. Many gene mutations have been identified; Val30Met is the most common. Disease phenotypes vary, particularly between patients with early onset disease versus late onset disease.2 Transthyretin is mainly synthesized in the liver and liver transplantation has been found to decrease serum levels of the abnormal protein and improve survival.1 Neuropathy symptoms also improve with transplantation.1, 2


  1. Sekijima Y. Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments. J Neurol Neurosurg Psychiatr 2015; 9: 1036-1043.
  2. Planté-bordeneuve V, Said G. Familial amyloid polyneuropathy. Lancet Neurol 2011; 12: 1086-1097.

Submitted by Ilena George, MD, Department of Neurology, Yale School of Medicine - New Haven, CT

Dr. George is a member of the Resident & Fellow Section of Neurology.

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