M. Kroger et al., LIVER-TRANSPLANTATION IN FAMILIAL AMYLOID POLYNEUROPATHY - CASE-REPORT AND REVIEW OF THE LITERATURE, Der Internist, 38(7), 1997, pp. 692-700
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.