Farah Abdulhai, MD1, Amneet K. Hans, MD2, Saurabh Chawla, MD, FACG3; 1The American University of Beirut, Beirut, Beyrouth, Lebanon; 2Emory University, Atlanta, GA; 3Emory Health Care, Atlanta, GA
Introduction: Tangier disease (TD) is a rare autosomal recessive disorder characterized by low HDL levels caused by mutations in the ABCA1 gene. This leads to the accumulation of cholesterol esters in macrophages and lipid deposition in organs, which is responsible for the clinical manifestations such as hyperplastic yellow-orange tonsils, hepatosplenomegaly, and peripheral neuropathy. TD also predisposes patients to thrombocytopenia and atherosclerosis. Laboratory findings include: low HDL (< 5 mg/dL), low levels of apo A-I concentration, (< 30 mg/dL (typically < 5 mg/dL), and a mild-moderate increase in triglycerides (up to 400 mg/dL). Only 100 cases of TD have been documented worldwide. We report a rare case of a patient with TD presenting with recurrent acute pancreatitis secondary to hypertriglyceridemia (HTG), representing a possible TD variant.
Methods: A 32-year-old male with a history of TD with neuropathy, splenomegaly, and thrombocytopenia presented with nausea, vomiting, and abdominal pain. In 2017, he presented with symptomatic splenomegaly and underwent splenectomy (path showed cholesterol laden macrophages). The patient had 3 hospitalizations for acute pancreatitis in 2019 secondary to HTG. He denied alcohol or tobacco use. WBC 12000/dL, lipase 400 IU/dL, and triglycerides 2170 mg/dL. CT showed acute interstitial edematous pancreatitis. MRCP was negative for a biliary process. He was started on an insulin drip for his hypertriglyceridemia and improved on conservative management. He was discharged on outpatient oral anti-triglyceride therapy. Discussion: It is well known that patients with lipid metabolism disorders such as deficiency in lipoprotein lipase and familial HTG are prone to developing acute pancreatitis. HTG is the etiology behind 14.3% of patients presenting with pancreatitis. Triglyceride levels greater than 1000 mg/dL are considered a major risk factor. Although patients with TD are known to have mild-moderately elevated triglycerides, these levels usually do not cause pancreatitis. Our patient was unique because of significantly elevated TG levels in the setting of known TD. After extensive literature review and discussion with our lipidology colleagues, we hypothesize that our patient has a rare, genetic polymorphism in the ABCA1 gene. The phenotype associated with this mutation predisposes TD patients to both severe HTG and to recurrent acute pancreatitis. Further investigation involving genetic sequencing in TD is warranted.
Disclosures: Farah Abdulhai indicated no relevant financial relationships. Amneet Hans indicated no relevant financial relationships. Saurabh Chawla indicated no relevant financial relationships.