Long-term quantitative evaluation of liver transplantation in familial amyloid polyneuropathy (Portuguese V30M)

Abstract

Familial amyloid polyneuropathy (FAP) is associated with massive endoneurial and extracellular deposition of amyloid, which is formed from a mutated transthyretin (TTR) protein. Ninety percent of TTR protein is produced in liver. Liver transplantation (LT) is the only treatment that can halt FAP clinical progression.

We studied 35 LT patients. The mean age of the first symptoms was 36.6 years (ranging from 27 to 56), 19 were males, and 16 females, they underwent LT after a mean time of 5 years of symptomatic disease. Fifteen patients followed for more than 24 months after LT had periodic evaluations with clinical and neurophysiological scores (CS and NS). Ten were first evaluated before LT (mean follow-up time of 44 months after LT), and 5 were evaluated only after LT (for a mean time of 41 months). Five patients were followed periodically before LT (mean time of 44 months) to study the natural course of this condition.

The mortality rate was of 14% in the first 6 months and was related to known complications of the surgery. No deaths occurred in the period 6 months to 1 year after LT. Five patients (14%) died 1-2 years after LT, 4 of whom were transplanted in advance stages. in the survival group, CS tended to stabilize shortly after LT and to remain invariable later on. The NS progressed in the first year following

LT, and subsequently it did not increase significantly. LT changed the natural course of FAP-I.

Key Words:

• familial amyloid polyneuropathy
• amyloidosis
• clinical score
• neurophysiological score
• liver transplantation