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This version published online on September 20, 2005
Journal of Clinical Endocrinology & Metabolism, doi:10.1210/jc.2005-1098
A more recent version of this article appeared on December 1, 2005
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Submitted on May 18, 2005
Accepted on September 12, 2005

Long-term course of lipoprotein lipase deficiency due to homozygous LPLArita in a patient with recurrent pancreatitis, retained glucose tolerance, and atherosclerosis

Masa-aki Kawashiri MD*, Toshinori Higashikata MD, Mihoko Mizuno, Mutsuko Takata MD, Shoji Katsuda MD, Kenji Miwa MD, Tsuyoshi Nozue MD, Atsushi Nohara MD, Akihiro Inazu MD, Junji Kobayashi MD, Junji Koizumi MD, and Hiroshi Mabuchi MD

Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Disease, Graduate School of Medical Science, Department of Lipidology, Graduate School of Medical Science; School of Health Science, Faculty of Medicine, Department for Life-style-related Diseases, Graduate School of Medical Science; Department of General Medicine, Kanazawa University Hospital, Kanazawa University, Kanazawa, Japan

* To whom correspondence should be addressed. 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-year-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 LPLArita) with no LPL mass or activity in postheparin plasma. He has experienced recurrent acute pancreatitis 22 times during our 31-year 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.
Key words: atherosclerosis • chylomicronemia • glucose tolerance • lipoprotein lipase deficiency • pancreatitis




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