SUN-057 Familial Partial Lipodystrophy Presenting As Recurrent Acute Pancreatitis- Challenges In Management

Abstract

Hypertriglyceridemia is a commonly encountered condition for health care providers, it is defined by a fasting serum triglyceride level of more than 150 mg/dl. However, more severe hypertriglyceridemia >1000 mg/dl is rare and found usually in less 1/5000 individuals. (Ford ES, et al, 2009) hypertriglyceridemia can be secondary to few diseases among which is familial lipodystrophy. Triglyceride level of more than 1000 mg/dl is associated with acute pancreatitis, and the risk increases dramatically with increasing triglyceride level to above 2000 mg/dl (reaching 20%) (Scherer J, et al,2014). We present a 39-year-old Caucasian male patient who started to have recurrent acute pancreatitis at the age of 18, investigations for the common causes of acute pancreatitis was unremarkable, except for triglyceride level of 20,000 mg/dl. Genetic testing was consistent with familial partial lipodystrophy. Management initially consisted of plasmapheresis to control the acute episode, in addition to lipid lowering agents (Statin, fenofibrate, and omega-3-acid) .despite being on maximal medical therapy, he required plasmapheresis on weekly basis.His physical exam was remarkable for loss of adipose tissue in the lower extremities and excess adipose tissue deposit in the supra-clavicular area. other metabolic complications included severe insulin resistance and difficult to control DM, and NASH that is progressing to chronic liver disease. The hallmark of lipodystrophy syndromes in general is the selective loss of adipose tissue, which can be partial or complete. Lipodystrophy syndromes are divided into congenital and acquired. Acquired lipodystrophy is most commonly seen is the lipodystrophy secondary to HIV antiretroviral medications (protease inhibitors)(Garg A et.al ,2011). Congenital lipodystrophy remains rare. Our patient has Partial familial lipodystrophy (PFLD), as evident by his physical exam findings. FPLD is also associated with other metabolic abnormalities include hyperglycemia, insulin resistance, increased metabolic rate, and hypertriglyceridemia and that can be severe as in this patient. Conclusion: untreated severe hypertriglyceridemia is an independent risk factor for CAD, as well as a cause of recurrent pancreatitis, which is associated with significant morbidity and mortality, evaluation for secondary causes helps guide the management and prevent serious complications and recurrence.