Carnitine Palmitoyltransferase 1A Deficiency: A Rare Cause of Chronic Liver Disease with Rare Presentation

Abstract

Carnitine Palmitoyltransferase 1A (CPT1A) deficiency is a very rare autosomal recessive disorder of fatty acid oxidation (FAO) which presents in children during concurrent febrile or gastrointestinal illness with hepatic encephalopathy (HE), hepatomegaly and rarely acute liver failure. Chronic liver damage is not reported in CPT1A deficiency. A 27-year-old female with history of CPT1A deficiency diagnosed in early childhood and chronic liver disease (CLD) complicated by thrombocytopenia, splenomegaly with model for end stage liver disease (MELD) score of 12; presented to emergency department with massive hematemesis. Vitals signs were stable. Physical exam was unremarkable except splenomegaly. Labs were significant for hemoglobin 7 g/dL, platelets 45 uL, electrolytes and liver enzymes unremarkable, INR 1.42, prothrombin time 17.2 sec, and total bilirubin 1.6 mg/dL. Computed tomography abdomen revealed prominent para-esophageal and peri-splenic varices, marked splenomegaly and fatty infiltration of liver (Image 1). The patient was started on IV fluids, ceftriaxone and octreotide. EGD revealed four columns of Grade IV esophageal varices (EV) that required 10 variceal bands (Image 2). Hospital course was further complicated by HE, thought to be multifactorial i.e. worsening liver function, poor oral intake and underlying defect in FAO. The patient was treated with lactulose, rifaximin with minimum improvement. Liver function continued to worsen with bilirubin 5.2 mg/dL, INR of 1.8 and MELD score of 24. A diagnosis of ACLF was made as her liver function 3 months prior to this admission was with in normal limits. She was high risk for re-bleeding and not a candidate for TIPS, so emergently transferred to a liver transplant center. CPT1A deficiency is a rare disorder with 60 cases reported so far. Either CLD or presentation as ACLF has not been reported in CPT1A deficiency. Our patient did not have history alcohol use or risk factors for NAFLD and Hepatitis B and C, hemochromatosis, Wilson's disease, autoimmune hepatitis were ruled out.2293_A Figure 1 No Caption available.2293_B Figure 2 No Caption available.