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Skin manifestations in familial heterozygous hypercholesterolemia

Skin manifestations in familial heterozygous hypercholesterolemia

Skin manifestations in familial heterozygous hypercholesterolemia

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<strong>Sk<strong>in</strong></strong> <strong>manifestations</strong> <strong>in</strong> <strong>familial</strong> <strong>heterozygous</strong> <strong>hypercholesterolemia</strong>Letter to the editorvaporization, and cryosurgery with vary<strong>in</strong>g degreeof success. In fact, surgery can be a good choice forxanthelasma, but it is difficult when lesions are veryclose to the eye, multiple, and, above all, the patientdoes not opt for it. TCA is a simple and effectivemethod, and achieves a satisfactory cosmetic resultafter 10 days and high patient satisfaction, butdietary modification and drug therapy with stat<strong>in</strong>sform the <strong>in</strong>itial treatment strategy. Stat<strong>in</strong>s (HMG-CoA reductase <strong>in</strong>hibitors) act by reduc<strong>in</strong>g the livercholesterol stores, which upregulate LDL-receptorexpression and produce a subsequent fall <strong>in</strong> theplasma LDL levels. Pharmacotherapy comb<strong>in</strong>edwith dietary modification is generally helpful <strong>in</strong>patients with the <strong>heterozygous</strong> form, but it maynot be adequate for the homozygous form, <strong>in</strong>which LDL-apheresis and liver transplantation arerecommended. Our patient is receiv<strong>in</strong>g therapywith ASA, β-blockers, and simvastat<strong>in</strong> to controlhis <strong>hypercholesterolemia</strong> and atherosclerosis.Table 1: Fredrickson et al. classification of hyperlipoprote<strong>in</strong>emia.TypeI(rare)IIaIIbIII(rare)IVV(rare)DescriptionSynonyms: Buerger-Gruetz syndrome, primary hyperlipoprote<strong>in</strong>aemia, <strong>familial</strong>hyperchylomicronemiaProblems: Decreased lipoprote<strong>in</strong> lipase (LPL) or altered ApoC2Increased lipoprote<strong>in</strong>: ChylomicronsTreatment: Diet controlSerum appearance: Creamy top layerSynonyms: Polygenic hypercholesterolaemia or <strong>familial</strong> <strong>hypercholesterolemia</strong>Problems: LDL receptor deficiencyIncreased lipoprote<strong>in</strong>: LDLTreatment: Bile acid sequestrants, stat<strong>in</strong>s, niac<strong>in</strong>Serum appearance: ClearSynonyms: Comb<strong>in</strong>ed hyperlipidemiaProblems: Decreased LDL receptor and <strong>in</strong>creased ApoBIncreased lipoprote<strong>in</strong>: LDL and VLDLTreatment: Stat<strong>in</strong>s, niac<strong>in</strong>/fibratesSerum appearance: ClearSynonyms: Familial dysbetalipoprote<strong>in</strong>emiaProblems: Defect <strong>in</strong> Apo E 2 synthesisIncreased lipoprote<strong>in</strong>: IDLTreatment: FibrateSerum appearance: TurbidSynonyms: Familial hyperlipemiaProblems: Increased VLDL production and decreased elim<strong>in</strong>ationIncreased lipoprote<strong>in</strong>: VLDLTreatment: Fibrates and niac<strong>in</strong>Serum appearance: TurbidSynonyms: Endogenous hypertriglyceridemiaProblems: Increased VLDL production and decreased LPLIncreased lipoprote<strong>in</strong>: VLDL and chylomicronsTreatment: Niac<strong>in</strong>/fibratesSerum appearance: Creamy top layer and turbid bottomR EFERENCES1861. Fredrickson DS, Levy RI, Lees RS. Fat transport <strong>in</strong> lipoprote<strong>in</strong>s – an <strong>in</strong>tegrated approach to mechanisms anddisorders. N Engl J Med. 1967;276:34–44.2. Yamakawa K, Yanagi H, Saku K, et al. Family studies of the LDL receptor gene of relatively severe hereditary<strong>hypercholesterolemia</strong> associated with Achilles tendon xanthomas. Hum Genet. 1991;86:445–9.Acta Dermatoven APA Vol 18, 2009, No 4

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