Liver Transplantation From a Donor Affected by Marfan's Syndrome

Abstract

Marfan's Syndrome (MS) is a systemic inheritable connective tissue (CT) disease related to fibrillin-1 genetic mutation, which gives an abnormal consistency to the CT. This compromised structure of the CT is related to cardiovascular, skeletal, and ocular system complications (1, 2). A 49-year-old patient underwent liver transplantation (LT) for hepatitis C virus-related end-stage liver disease and hepatocellular carcinoma. The donor was a 17-year-old female with MS pronounced brain dead from postanoxic brain injury. Her clinical findings from MS were characterized by severe mitral valve prolapse and bone-joint abnormalities. She was not affected from any vascular manifestation of arterial degeneration; however, the liver was the only organ harvested. Histological hepatic artery analysis, performed over the procurement, appeared normal; therefore, the organ was considered suitable. Before procurement, the recipient received a thorough informed-consent about MS. During posttransplant follow-up, the graft hepatic artery was checked by serial ultrasound-Doppler scans, weekly for the first month and subsequently once per month; angio-computed tomography scan was performed on the sixth month. The vascular changes from MS mostly involve the main vessels (incidence ranged between 30% and 50%) because of the greater content of compromised CT within the vessel walls and to the higher pressure and blood flow the arteries are exposed to. The incidence of visceral artery changes is approximately 0.4−2% and is usually manifested with cystic medionecrosis (1–3). In the literature, only two hepatic artery complications are described in patients with MS. Santiago-Delpin et al. (4) described a case of incomplete MS with multiple aneurysms of the aorta and its branches, in which a hepatic artery aneurysm perforated into the common bile duct. Ruschen et al. (5) in 1984 published a case in which a spontaneous hepatic artery rupture occurred in a patient with MS. The FBN1-gene mutation persists in the transplanted graft and, theoretically, may increase the risk of vascular complications such as dilation, aneurysmal changes, dissection, and intimal tears (6). Our rationale to accept a donor with MS was based on the low incidence of hepatic artery complications and total absence of hepatic dysfunction in patients with MS. The normal hepatic artery biopsy also gave a crucial piece of information in the acceptance process. Farese et al. (6) suggested another potential complication occurring in this setting: the possibility of antibodies developed against mutated fibrillin-1 donor liver cells. To date, we have not detected any posttransplant liver dysfunction and the recipient has not presented graft rejection. In conclusion, LT from MS donors may represent an opportunity to expand the potential donor pool. Moreover, the mean age at death of patients affected from MS is 45 (±16) years old; therefore, the liver status of such a young donor should be better than common marginal donors (7, 8). The biopsy at the time of procurement should be the first step in accepting an organ from a patient with MS. Furthermore, we advocate a closer follow-up of the graft vessels by means of Doppler-ultrasound in patients receiving such a graft. After a follow-up of 10 months our recipient did not show signs of graft complications or hepatic artery changes. Fabrizio Di Benedetto Stefano Di Sandro Nicola De Ruvo Michele Masetti Liver and Multivisceral Transplant Center University of Modena and Reggio Emilia Modena, Italy Cristiano Quintini Department of General Surgery Cleveland Clinic Foundation Cleveland, OH Roberto Montalti Roberto Ballarin Giorgio E. Gerunda Liver and Multivisceral Transplant Center University of Modena and Reggio Emilia Modena, Italy