Hypolipoproteinemia

Hypolipoproteinemia
Classification and external resources
Specialty endocrinology
ICD-10 E78.6
ICD-9-CM 272.5
MeSH D007009

Hypolipoproteinemia, hypolipidemia, or hypolipidaemia (British English) is a form of dyslipidemia that is defined by abnormally lowered levels of any or all lipids and/or lipoproteins in the blood. It occurs through genetic disease (namely, Hypoalphalipoproteinemia and Hypobetalipoproteinemia), malnutrition, malabsorption, wasting disease, cancer, hyperthyroidism, and liver disease.

Diagnosis

It can be diagnosed via blood study that identifies fat particles. The patient must fast overnight to prevent interference from fat in the blood due to food intake. The criteria for this (without the involvement of cholesterol-lowering drugs) are total cholesterol levels below 120 mg/dL and LDL cholesterol levels under 50 mg/dL.[1]

Critical illness

In the setting of critical illness, low cholesterol levels are predictive of clinical deterioration, and are correlated with altered cytokine levels.[2]

In humans with genetic loss-of-function variants in one copy of the ANGPTL3 gene, the serum LDL-C levels are reduced. In those with loss-of-function variants in both copies of ANGPTL3, low LDL-C, low HDL-C, and low triglycerides are seen ("familial combined hypolipidemia").[3]

Hooft disease is a rare condition evidenced by low blood lipid level, red rash and mental and physical retardation.

Treatment

Vitamin E supplements have shown to help children with the deficiency.

See also

References

  1. ↑ The Merck Manual of Diagnosis of Therapy, 18th edition. 2006.
  2. ↑ Gordon BR, Parker TS, Levine DM, et al. (2001). "Relationship of hypolipidemia to cytokine concentrations and outcomes in critically ill surgical patients". Crit. Care Med. 29 (8): 1563–8. doi:10.1097/00003246-200108000-00011. PMID 11505128.
  3. ↑ Musunuru K, Pirruccello JP, Do R, Peloso GM, Guiducci C, Sougnez C, Garimella KV, Fisher S, Abreu J, et al. (2010). "Exome Sequencing,ANGPTL3Mutations, and Familial Combined Hypolipidemia". New England Journal of Medicine. 363 (23): 2220–2227. doi:10.1056/NEJMoa1002926. PMC 3008575Freely accessible. PMID 20942659.


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