Endocrine Abstracts

Introduction: Severe mixed hypertriglyceridemia (SMH) is a highly heterogeneous group of dyslipidemias, both phenotypically and mechanistically (1). The primary origin is dominated by familial combined hyperlipidemia; the most frequent genetic cause. The major concern is the development of acute pancreatitis. We report the case of a patient with mixed hypertriglyceridemia to illustrate the therapeutic difficulties encountered in managing.

Clinical case: Forty-eight years-old patient, type 2 diabetic, hypertensive, followed for mixed hypertriglyceridemia with hepatic steatosis. Initially put on a hypocaloric and hypolipidic diet with a combination of fenofibrates and statins, discontinued because of cholestatic hepatitis. Examination: bilateral corneal arc with xanthomas of the hands and left gluteal region. Lipid profile: total cholesterol: 5.53 g/l HDL-C: 0.4 g/l, TG: 14.2 g/l. Normal lipasemia. Cardiovascular workup showed concentric LVH. Indication for LDL apheresis was made, but the patient’s lipid profile showed an incomplete response and fluctuated. Over the course of the last 3 sessions, the patient experienced malaise, hypotension and bradycardia, which led to suspension of LDL-apheresis. Given the improvement in liver function, treatment with fenofibrate 160 mg and pravastatin 40 mg, supplemented with omega-3 fatty acids, was reintroduced with good results.

Discussion and conclusion: Hypertriglyceridemia (HTG) is a common condition, most often caused by multiple, interrelated factors. Genetic hypertriglyceridemias are apparently uncommon. (2). Mixed HTG increases the risk of cardiovascular and cerebral events, and is frequently associated with metabolic syndrome. Acute pancreatitis is an extremely serious complication, and should be avoided in all cases of severe HTG. HTG accounts for 1-10% of all AP etiologies (3). Genetic diagnosis has precise indications. In our patient, after eliminating secondary causes, an essential mixed dyslipidemia was suggested. Fibrates and statins can trigger toxicity or worsen already impaired liver function, so they should be discontinued (4). LDL-apheresis is a better therapeutic alternative, especially in emergency situations (5), despite its limited cost and availability. Family screening is essential for children, and for women of childbearing age planning a pregnancy (1).

Keywords: Hypertriglyceridemia, pancreatitis, apheresis, statins, fibrates, genetics.