Acute Liver Decompensation in an Adult Alagille Syndrome Patient

Alagille—Watson syndrome is an autosomal dominant disease associated with cardiac, hepatic and kidney abnormalities. Estimated prevalence of disease is 1 in 100,000 live births. Symptoms and severity of Alagille syndrome range from mild to cases requiring organ transplantation. 32 year old male patient with history of Alagille Syndrome s/p biliary diversion and right hemicolectomy at age 5 who was lost to follow up after he turned 18. Patient known to have Allele 1: 551 G>A (R184H), Allele 2 with no mutation. Patient was admitted to the hospital with one month of worsening jaundice, fever and two episodes of non—bloody vomiting. Pertinent history included alcohol use 6—8 beers over the weekend for several years. Patient had baseline bilirubin of 2.4 and had elevated bilirubin for most of his life. On admission his AST/ALT were 209/143 U/L, bilirubin 18.6 mg/dl, direct 13.6 mg/dl; total bilirubin peaked at 24.4 mg/dl, INR was 10 and PTT was 51s. CBC and chemistries were normal. After vitamin K administration, INR corrected to 1.5. Patient received antibiotics and had negative blood and urine cultures. US done showed splenomegaly. MRCP showed cirrhotic liver and nondilated bile ducts. Liver biopsy showed biliary cirrhosis, absent interlobular bile ducts, severe bile stasis and prominent Mallory Hyaline. Patient bilirubin levels improved and patient is currently undergoing liver transplant workup. 90% of patients with Alagille syndrome have bile duct paucity. This usually presents as cholestasis in the first four months of life. In our patient this issue was improved with the biliary diversion. However this was complicated by low absorption of fat soluble vitamins. It is likely that infection and alcohol contributed to his worsening liver disease. Pulmonic stenosis is the most common cardiac anomaly and most patients have classical syndromic facial features and butterfly vertebrae as did our patient. Posterior embryotoxon is also common. This is a rare presentation of Alagille syndrome in an adult and highlights the importance of continued followup in this patient population. It has been reported that 15% of non—transplanted patients with Alagille disease progress to liver cirrhosis.