Outcome of liver transplantation for familial amyloidotic polyneuropathy

Abstract

Patients with hereditary and primary amyloidosis were excluded from analysis. One-and 3-year survival rates after LT in MET30 patients were 100%. Before LT, five of five patients had sensorimotor neuropathy; five of five patients had diarrhea, and four of five patients had orthostatic hypotension. After LT, improvement or stabilization of neuropathy was seen in two of five patients; of diarrheal symptoms, in three of five patients; and of orthostatic hypotension, in three of four patients. One-and 3-year survival rates after LT in NMET30 patients were 100% and 85.7%, respectively. Before LT, six of seven patients had sensorimotor neuropathy, six of seven patients had diarrhea, and five of seven patients had orthostatic hypotension. After LT in this group, improvement or stabilization of neuropathy was seen in two of six patients; of diarrhea, in six of six patients; and of orthostatic hypotension, in five of five patients. Before LT, posterior wall and/or ventricle septal thickness was increased in two of five MET patients and seven of seven NMET patients. Five of seven NMET30 patients (71.4%) who received a combined liver and heart transplant had stabilization, and two patients in the NMET group and one patient in the MET group had progression of heart disease. Outcomes for LT for patients with FAP with MET or NMET mutations were similar. Earlier LT for patients with FAP with MET30 or NMET30 mutation would improve outcomes after LT.

Amyloidosis and Cardiac Surgery

“…Liver transplantation should be instrumental or potentially curative in familial amyloidosis for abolishment of the aberrant transthyretin production. Scarcity of reported cases preclude consistent conclusion but it seems that precise knowledge of specific transthyretin mutation subtype may help to differentiate the outcome of transplantation strategy (Sharma, Perri et al 2003).…”

Cardiac and Multi-Organ Transplantation in Patients with Amyloidosis

“…This study showed that specific ATTR mutations do not affect the therapeutic success of CHLTx. Indeed, ALA 60 ATTR has been reported as a mutation of particularly poor prognosis and five of eight patients with ALA60 mutation described in the literature have died after ILTx (Kotani et al, 2002;Sharma et al, 2003). Moreover, the Tyr 77 ATTR (German variant) mutation is also typically associated with prominent and progressive cardiac involvement after ILTx (Garcia-Herola, 1999).…”

“…In the Mayo Clinic report three of the four patients with ALA 60 ATTR mutation remain alive and one died of progressive renal failure; three patients with the TYR 77 ATTR variant remain alive and had no amyloid deposition on the last endomyocardial biopsy. Autonomic disturbances, modified body mass index, duration of symptoms, polyneuropathy, disability score, orthostatic hypotension, gastrointestinal and urinary tract dysfunction are important factors in the preoperative evaluation (Grazi et al, 2003;Sharma et al, 2003;Pilato et al, 2007) and optimizing the timing for CHLTx appears to be crucial.…”

Recurrencia de la enfermedad hepática primaria después del trasplante hepático

“…La mutación más frecuente es Val30Met. Nuestra experiencia 35 recientemente publicada consistió de 12 casos de AFP que recibieron un trasplante hepático. Cinco de ellos tenía la mutación más común, Met30 y 7 nonMet30 (Ala60, Tyr70, Gly42, Lys89).…”