JACC. Case reports
Systemic Amyloidosis After Liver Transplantation From a Donor With Hereditary Transthyretin Amyloidosis
By Machado MA, Monteiro MM, Corrêa de Miranda DC and 7 others.
Abstract
Background
Acquired transthyretin (TTR) amyloidosis after domino liver transplantation is rare and may manifest years after the procedure, with neurologic involvement. Case summary: A 75-year-old man received a liver from a donor with TTR amyloid polyneuropathy. Twelve years later, he developed paresthesias, diarrhea, and blood pressure lability. Electroneuromyography showed a length-dependent, predominantly axonal sensorimotor polyneuropathy, with absent sympathetic skin responses, indicating autonomic involvement. Abdominal fat pad biopsy was Congo red positive, and TTR genetic testing was negative. Cardiac involvement was absent. He was treated with pregabalin and fludrocortisone, and patisiran was indicated as disease-modifying therapy.
Discussion
The association of progressive neuropathy, dysautonomia, gastrointestinal manifestations, and domino transplantation favored acquired TTR amyloidosis over diabetic neuropathy. Reported cases show onset after 5-10 years, with neuropathy preceding cardiac disease. Take-home message: Domino transplant recipients require long-term follow-up, even with negative genetic testing and no initial cardiomyopathy, to enable early diagnosis and monitoring of systemic progression.