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Hyperlipoproteinemia, Type I

Alternative Names
Lipoprotein Lipase Deficiency
LPL Deficiency
Hyperchylomicronemia, Familial
Hyperlipemia, Idiopathic, Burger-Grutz Type
Hyperlipemia, Essential Familial
Lipase D Deficiency
LipD Deficiency
Hyperlipoproteinemia, Type Ia
Chylomicronemia, Familial
Apolipoprotein C-II Deficiency

WHO International Classification of Diseases
Endocrine, nutritional and metabolic diseases > Metabolic disorders

OMIM Number

Gene Map Locus

Mode of Inheritance
Autosomal recessive Multiple alleles and compounds

Med. Sea


Med. Sea














The Gulf







Red Sea












Hyperlipoproteinemia type I is a rare inherited disorder caused by lipoprotein lipase (LPL) deficiency that results in the impairment of fat catabolism system. Naturally, LPL is responsible for breaking down triglycerides that are attached to the chylomicrons (large lipoproteins) into fatty acids and glycerol. These two components (fatty acid and glycerol) enter adipose cells to be stored or they are utilized by muscles to produce energy. If the LPL is deficient in an individual, chylomicrons with their attached triglycerides will accumulate in plasma inducing hypertriglyceridemia that gives the plasma a milky appearance. Hypertriglyceridemia is usually associated with episodes of abdominal pain, recurrent acute pancreatitis, eruptive cutaneous xanthomata (yellow skin lesions), and hepatosplenomegaly.

Hyperlipoproteinemia type I presents during childhood and fortunately, its complications can be resolved by reducing the daily fat intake to 20g or less. Diagnosis is confirmed when the LPL activity is reduced below 20% of normal and mutations in the LPL gene is detected. Carriers are clinically normal, but they may be more susceptible to develop atherosclerosis than non carriers. About 1:1,000,000 people are affected with Hyperlipoproteinemia type I worldwide with a higher prevalence in some regions of Canada.

Molecular Genetics

Hyperlipoproteinemia type I is inherited as an autosomal recessive character. Mutations in the lipoprotein lipase (LPL) gene are responsible for causing the complications of the disease. The product of the mutant gene is an abnormal LPL enzyme that can not break down fats effectively. More than 220 disease-causing mutations have been detected in the LPL gene. These mutations are in the form of missense mutations (70%), nonsense mutations (10%), or gene rearrangements (18%).

Epidemiology in the Arab World


Abifadel et al. (2004) identified a novel mutation (776A>T; D174V) in the LPL gene in two patients from two Lebanese families. Both patients, 34 and 7 years old, respectively, displayed hypertriglyceridemia, and presented recurrent abdominal pain. Both had consanguineous parents, and were later found to be related to each other. Heterozygous relatives were shown to have mildly elevated triglyceride levels without any clinical manifestation under normal metabolic and dietary conditions. Abifadel et al. (2004) considered that the finding of this specific mutation causing LPL in Lebanese families could have interesting implications in the diagnosis and screening of familial hyperchylomicronemia.


Foubert et al. (1997) reported two unrelated Moroccan families of Berber ancestry with familial chylomicronemia. In both probands, familial chylomicronemia manifested in infancy and was complicated with acute pancreatitis at age 2 years. Both probands were homozygous for a Ser259Arg mutation, which results in the absence of LPL catalytic activity both in vivo and in vitro. In heterozygous relatives, a partial decrease in plasma LPL activity was observed, sometimes associated with combined hyperlipidemia. This mutation previously unreported in other populations segregated on an identical haplotype, rarely observed in Caucasians, in both families. Foubert et al. (1997) suggested that LPL deficiency is a cause of familial chylomicronemia in Morocco and may result from a founder effect in patients of Berber ancestry.

United Arab Emirates

Raupp et al. (2002) reported the first case of a neonate with lipoprotein lipase deficiency (LPLD) who presented poor feeding and lethargy from the third day. At his fourth week, he developed hyperglycemia and glucosuria and insulin therapy was started. He had a lactescent serum and hypertriglyceridemia. Lethargy, hepatomegaly, and hyperglycemia increased with time. Increasing hyperglycemia in spite of having insulin therapy indicated the existence of insulin-resistant diabetes type. The liver biopsy at one month showed massive steatosis. Poor feeding, lethargy, hyperglycemia, and hyperlipidemia were resolved with the normalization of triglyceride level.


  1. Abifadel M, Jambart S, Allard D, Rabes JP, Varret M, Derre A, Chouery E, Salem N, Junien C, Aydenian H, Boileau C. Identification of the first Lebanese mutation in the LPL gene and description of a rapid detection method. Clin Genet. 2004; 65(2):158-61.
  2. Foubert L, Bruin T, De Gennes JL, Ehrenborg E, Furioli J, Kastelein J, Benlian P, Hayden M. A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry. Hum Mutat. 1997; 10(3):179-85.
  3. Raupp P, Keenan C, Dowman M, Nath R, Hertecant J. Lipoprotein lipase deficiency and transient diabetes mellitus in a neonate. J Inherit Metab Dis. 2002; 25(5):413-4.

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Edit History
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Abeer: 6.3.2007
Pratibha: 1.3.2007
Pratibha: 28.12.2006

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