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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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Your Question

I am living in Israel, and my father has the rare disease familial amyloid polyneuropathy. What are the treatment options for this disease? Have people been successfully treated?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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

What is the prognosis for individuals with familial transthyretin amyloidosis?

The prognosis for individuals with transthyretin amyloidosis depends on the presence and type of transthyretin protein being deposited, as well as the organ(s) affected by the disease. Patients with early-onset disease and certain types of transthyretin protein may die within a few years of diagnosis, while older patients with slowly progressive disease can live for decades after the onset of symptoms and may never develop life-threatening disease. Unlike in other types of amyloidosis, symptomatic cardiac involvement does not necessarily mean a poor prognosis.[2]
Last updated: 7/1/2011