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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Familial transthyretin amyloidosis


Other Names for this Disease
  • Amyloidosis Transthyretin related
  • Amyloidosis, hereditary, transthyretin-related
  • Familial amyloid polyneuropathy
  • Transthyretin amyloid neuropathy
  • Transthyretin amyloid polyneuropathy
More Names
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Treatment


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How might familial transthyretin amyloidosis be treated?

There have been several recommendations proposed for evaluating and treating individuals with familial transthyretin amyloidosis.[1] To establish the extent of the disease in a newly diagnosed individual, evaluation may include:
  • Complete neurologic assessment including baseline nerve conduction studies (which measure the speed at which nerves conduct impulses)
  • Evaluation of the heart for cardiomyopathy and to evaluate amyloid deposition in the heart
  • Gadolinium-enhanced MRI of the brain and spinal cord to evaluate central nervous system (CNS) amyloidosis
  • Ophthalmologic (eye) evaluation
  • Evaluation of renal function[1]

Treatment for familial amyloid polyneuropathy may include:

In terms of preventing some signs and symptoms associated with the condition, orthotopic liver transplantation (OLTX) is reportedly the only effective therapy for the neuropathy associated with familial transthyretin (TTR) amyloidosis. This type of liver transplantation involves replacing the recipient liver with a donor liver. This procedure removes the main production site of the abnormal protein. Successful OLTX results in rapid disappearance of the harmful protein and thus stops the progression of neuropathy. It has been recommended that individuals with the condition considering OLTX  be at an age younger than 60 years; have a disease duration less than five years; have either polyneuropathy that is restricted to the lower extremities (legs) or autonomic neuropathy alone; and have no significant cardiac (heart) or renal (kidney) dysfunction. OLTX is reportedly not effective in the non-neuropathic forms of familial transthyretin amyloidosis (i.e., cardiac amyloidosis, leptomeningeal amyloidosis, and familial oculoleptomeningeal amyloidosis). Individuals with leptomeningeal involvement may not be candidates for liver transplantation.[1]

Last updated: 7/1/2011

References
  1. Yoshiki Sekijima, Kunihiro Yoshida, Takahiko Tokuda, Shu-ichi Ikeda. Familial transthyretin amyloidosis. GeneReviews. September 15, 2009; http://www.ncbi.nlm.nih.gov/books/NBK1194/. Accessed 6/29/2011.


Management Guidelines

  • The Amyloid Treatment and Research Program at Boston University School of Medicine provides information on the treatment of different forms of amyloidosis.
  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Familial transthyretin amyloidosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.