Familial transthyretin amyloidosis
- Amyloidosis Transthyretin related
- Amyloidosis, hereditary, transthyretin-related
- Familial amyloid polyneuropathy
- Transthyretin amyloid neuropathy
- Transthyretin amyloid polyneuropathy
Your QuestionI 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?
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- 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
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.
- 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.
- Jefferson R Roberts. Amyloidosis, Transthyretin-related. eMedicine. September 15, 2009; http://emedicine.medscape.com/article/335301-followup#a2650. Accessed 6/29/2011.