LIVER-TRANSPLANTATION IN FAMILIAL AMYLOID POLYNEUROPATHY - CASE-REPORT AND REVIEW OF THE LITERATURE

A 59-year old male of German origin noticed exercise-independent cardi ac arrhythmia two yea rs before admission. An ala nine 47 transthyreti n Variant of Familial Amyloid Polyneuropathy with hypertrophic cardiom yopathy, peripheral sensory-motor polyneuropathy, I. degree AV heart b lock was diagnosed. To diminish production and deposition of mutant tr ansthyretin and to prevent disease progression orthotopic liver transp lantation was performed. Prior to transplant the patient complained of inappetence. Postoperatively, he received a chemically defined entera l nutrition regime that was discontinued after 30 months until return of appetite and weight gain indicated marked improvement. However, a d uodenal biopsy still demonstrated amyloid deposits 24 months after tra nsplantation. Echocardiographic findings remained unchanged. Neurologi c examination showed an improvement of sensory-motor polyneuropathy wi th regression of electromyographic changes. Only traces of variant tra nsthyretin were detectable in plasma samples taken 12 months after the operation. During the 3 year follow-up, no additional symptoms have o ccurred and progression of amyloidosis was prevented. Currently, ortho topic liver transplantation is the only specific treatment to prevent progression of familial amyloid polyneuropathy.