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5C81.1 Hypobetalipoproteinaemia

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

Hypobetalipoproteinemia (HBL) constitutes a group of lipoprotein metabolism disorders that are characterised by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol. There are two types of HBL: familial hypobetalipoproteinemia and chylomicron retention disease (CMRD; see these terms). The familial form can be severe with early onset (abetalipoproteinemia/homozygous familial hypobetalipoproteinemia; see this term) or benign (benign familial hypobetalipoproteinemia; see this term). (Please add the sentence). Severe familial HBL and CMRD appear in infancy or childhood. As a result they are often associated with growth delay, diarrhoea with steatorrhoea, and fat malabsorption. Benign familial hypobetalipoproteinemia is generally asymptomatic, but in adults is occasionally associated with dietary intolerance to fat. HBL disorders are caused by mutations in proteins involved in the synthesis, secretion and catabolism of lipoproteins containing apolipoprotein B (LDL, VLDL and chylomicrons).

synonyms

• Hypobetalipoproteinaemia
• Abetalipoproteinaemia
• Homozygous familial hypobetalipoproteinaemia
• Bassen-Kornzweig disease
• Apolipoprotein B deficiency
• ABL - [abetalipoproteinemia]
• Familial hypobetalipoproteinaemia
• Benign familial hypobetalipoproteinaemia
• Truncated form of apolipoprotein B-100
• Chylomicron retention disease
• Hypobetalipoproteinaemia with selective deletion of Apo B-48
• Anderson disease
• CMRD - [chylomicron retention disease]
• Secondary hypobetalipoproteinaemia

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