Liver transplantation for hereditary hemorrhagic telangiectasia: Report of the European liver transplant registry

Abstract

Background: Hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease is a rare disease characterized by the presence of arteriovenous malformations. Hepatic involvement can lead to life-threatening conditions.

Material and methods: Forty patients, reported to the European Liver Transplant Registry, were analyzed to define the role of liver transplantation in the treatment of the hepatic disease form. Indications for transplantation were classified according to Garcia-Tsao: cardiac failure (14 patients), biliary necrosis causing hepatic failure (12 patients), severe portal hypertension (5 patients), cardiac failure and biliary necrosis (6 patients), cardiac failure and portal hypertension (2 patients), and cardiac failure associated with biliary necrosis and portal hypertension (1 patient). Eighteen (81%) of 22 patients had pulmonary artery hypertension. Twelve (30%) patients had pretransplant hepatic interventions. Follow-up was complete for all patients with a mean of 69 months (range, 0-230 months).

Results: One-, 5- and 10-year actuarial patient and graft survival rates are 82.5%. Six of the 7 pretransplant procedures performed on the hepatic artery were severely complicated. Cardiovascular function documented in 24 patients improved in 18 patients and remained stable in 5 patients; 1 patient died perioperatively of acute heart failure. Twenty-four (60%) patients had post-transplant complications, all but one occurring within the first 4 posttransplant months. Seven (17.5%) patients died perioperatively, 6 of them due to bleeding and 1 due to cardiac failure; 1 (2.5%) patient died late due to chronic rejection. There were 2 possible recurrences. Quality of life markedly improved in all 32 surviving patients.

Conclusion: The results of the largest reported transplant series in the treatment of hepatic-based HHT are excellent. Elimination of hepatobiliary sepsis and reversal of cardiopulmonary changes dramatically improve quality of life of the recipients. LT should be proposed earlier in the course of symptomatic hepatic HHT presenting with life-threatening conditions. Palliative interventions, especially on the hepatic artery, should be avoided in view of their high (infectious) complication rate.

FIGURE 1. Cardiac type of HHT. A, HHT anomalies were responsible for a huge cardiomegaly. B, Arterial phase of angiography shows immediate filling of the hepatic veins and aneurysm of the proper hepatic artery during the arterial phase. C, Liver scan shows immediate visualization of the hepatic veins after arterial injection of contrast bolus. This 48-year-old woman died of cardiac decompensation while awaiting a liver transplant.

FIGURE 2. Biliary type of HHT. A, MR imaging. B and C, Pathologic examination of the hepatectomy specimen (patient 33) shows diffuse and extreme modification of the bile ducts, which were responsible for repetitive severe bouts of cholangitis.

FIGURE 3. Actuarial patient and graft survival after liver transplantation for HHT.

FIGURE 4. Recurrent allograft telangiectasias 10 years after successful LT for HHT. One can see the small vascular lesions scattered throughout the liver. Similar findings were seen in her cousin after LT. (Reproduced with permission.)