Article
Long-term course of lipoprotein lipase (LPL) deficiency due to homozygous LPL(Arita) in a patient with recurrent pancreatitis, retained glucose tolerance, and atherosclerosis.
The Journal of clinical endocrinology and metabolism - 1 Dec 2005
Kawashiri Masa-aki, Higashikata Toshinori, Mizuno Mihoko, Takata Mutsuko, Katsuda Shoji, Miwa Kenji, Nozue Tsuyoshi, Nohara Atsushi, Inazu Akihiro, Kobayashi Junji, Koizumi Junji, Mabuchi Hiroshi
Abstract excerpt
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...
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