What Is Familial Transthyretin Amyloidosis?
FTA is caused by changes (mutations) in the TTR gene. Inheritance is autosomal dominant, but not all people with a TTR gene mutation will develop FTA. Diagnosis of FTA is suspected by signs and symptoms and confirmed by tissue biopsy and genetic testing.
Primary treatment is a liver transplantation. This procedure removes the main source of amyloid from the body, but amyloid may still build-up in the heart, brain, and eyes. New medications have become available that block the formation of amyloid and may provide an alternative to liver transplant. Other treatments include heart and/or kidney transplantation, putting in a pacemaker, replacing the fluid in the eye (vitrectomy), and various medications. FTA is typically a fatal condition, but life expectancy depends on many factors.
Source: Genetic and Rare Diseases (GARD) Information Center