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Long-Term Course of Lipoprotein Lipase (LPL) Deficiency Due to Homozygous LPL_Arita in a Patient with Recurrent Pancreatitis, Retained Glucose Tolerance, and Atherosclerosis

Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Disease (M.K., T.H., M.M., M.T., S.K., K.M., T.N.), Department of Lipidology (A.N., H.M.), and Department for Life-Style-Related Diseases (J.Kob.), Graduate School of Medical Science, School of Health Science (A.I.), Faculty of Medicine, and Department of General Medicine (J.Koi.), Kanazawa University Hospital, Kanazawa University, Kanazawa, 920-8641, Japan

Address all correspondence and requests for reprints to: Masa-aki Kawashiri, M.D., Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Disease, Graduate School of Medical Science, Kanazawa University, 13-1 Takara-machi, Kanazawa, 920-8641, Japan. E-mail: masaaki{at}im2.m.kanazawa-u.ac.jp.

Context: Lipoprotein lipase (LPL) deficiency is a rare autosomal recessive disorder caused by LPL gene mutation and is characterized by severe hyperchylomicronemia. Patients with LPL deficiency suffer from the frequent recurrence of acute pancreatitis, but the underlying mechanisms are not fully understood.

Case Report: A 22-yr-old male Japanese patient with severe hyperchylomicronemia was admitted to our hospital in 1973. He had no consanguinity and no family history of hyperlipidemia. He was genetically diagnosed as LPL deficiency (homozygous for LPL_Arita) with no LPL mass or activity in postheparin plasma. He has experienced recurrent acute pancreatitis 22 times during our 31-yr clinical follow-up, but no pancreatic pseudocyst, irregularity of the pancreatic duct, or abnormal pancreatic calcification was observed in computed tomography. Moreover, his pancreatic endocrine function, as assessed by the oral glucose tolerance test, has preserved more than 30 yr. Although he was a current smoker, no clinically significant atherosclerotic lesion had been observed.

Conclusions: From the long-term observation of this patient, we propose that LPL deficiency is not invariably associated with high mortality and that even with repeated episodes of acute pancreatitis, pancreatic function may be slow to decline.

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