Distinguishing features of homozygous patients with very low or undetectable HDL C and Apo A1 [47] : Apo A/CIII/A-IV Deficiency ApoA/CIII Deficiency Apo A Deficiency Planar Xanthomas Absent Present Present Tubo-Eruptive Xanthomas Absent Absent Present [wikidoc.org]

Homozygotes presented markedly decreased HDL cholesterol levels, undetectable plasma apoA-1, tuboeruptive and planar xanthomas, mild corneal arcus and opacification, and severe premature coronary artery disease. [ncbi.nlm.nih.gov]

Clinical description Although extremely low plasma HDL cholesterol may be detected in any patient fortuitously from birth, the age of symptom onset and the clinical presentation varies greatly. [orpha.net]

• Skin Discoloration

  On physical examination, she had bilateral xanthomas of the eyelids and focal yellow skin discolorations in the cubital fossae of both forearms, but there was no tonsillar hypertrophy or Achilles tendon xanthoma. [bmcophthalmol.biomedcentral.com]

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Treatment In experimental rodents, treatment with either endostatin or TNP-470 leads to dramatic reductions in the size of atherosclerotic lesions. apolipoprotein E deficiency A rare cause of type III hyperlipoproteinemia, caused by specific mutations [medical-dictionary.thefreedictionary.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Prognosis - Familial Hypoalphalipoproteinemia Prognosis depends on the occurrence of premature CHD and end-stage organ failure in cases with signs of amyloidosis. Treatment - Familial Hypoalphalipoproteinemia To date, there is no curative therapy. [checkorphan.org]

Regular cardiovascular monitoring should be offered to Apo AI deficient patients with extremely low HDL cholesterol ( Prognosis Prognosis depends on the occurrence of premature CHD and end-stage organ failure in cases with signs of amyloidosis. [orpha.net]

Etiology The disease is due to various deletions and mutations of the APOA1 gene (11q23-q24), encoding the apo A-I protein, a major constituent of HDL, that lead to decreased apo A-I production, impaired function or increased apo A-I catabolism. [orpha.net]

The underlying etiology for all clinical phenotypes of ABCA1 deficiency is the imbalance in cholesterol metabolism. [cerenis.com]

The results of many epidemiological studies show that decreased HDL-C concentrations, especially in combination with elevated LDL-C (LDL/HDL ratio > 3.5), represent a risk for coronary heart disease. [medical-genetics.de]

Summary Epidemiology Prevalence of Apo A-I deficiency is unknown. The disease has been described in about 30 families. [orpha.net]

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The key pathophysiological mechanism of FPHA is therefore that the genetically inadequate removal/elimination capacity of the defective HDL pathway is easily overwhelmed by even a relatively normal delivery of cholesterol by the LDL pathway, leading to [cerenis.com]

Pathophysiology of Triglyceride-Rich Lipoproteins in Atherothrombosis: Cellular Aspects. Clin. Cardiol. 22, (Suppl. 11) 11-7-11-14 [On-line Journal]. PDF available for download at http://www.clinicalcardiology.org/supplements/CC22S2/CC22S207.pdf. [labtestsonline.it]

[…] apolipoprotein E deficiency A rare form of type-III hyperlipoproteinaemia (OMIM:107741) caused by a mutation of APOE on chromosome 19q13.32, which prevents binding of chylomicrons and VLDL to the LDL receptor. [medical-dictionary.thefreedictionary.com]

The discovery could lead to more potent drug therapies that both target cholesterol deposition and prevent future accumulation. [www2.lbl.gov]

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