DISBETALIPOPROTEINEMIA FAMILIAR PDF

Effect of adding bezafibrate to standard lipid-lowering therapy on post-fat load lipid levels in patients with familial dysbetalipoproteinemia. Signs of familial dysbetaproteinemia include xanthoma striatum palmare orange or yellow discoloration of the palms and tuberoeruptive xanthomas over the elbows and knees. Herz Aug;42 5: Familial combined hyperlipidemia Familial hypertriglyceridemia Familial dysbetalipoproteinemia. In silico analyses of deleterious missense SNPs of human apolipoprotein E3.

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This gene provides instructions for making two versions of the apolipoprotein B protein: a short version called apolipoprotein B and a longer version known as apolipoprotein B Both of these proteins are components of lipoproteins , which transport fats and cholesterol in the blood.

The severity of the condition largely depends on the length of these two versions of apolipoprotein B. Severely shortened versions cannot partner with lipoproteins and transport fats and cholesterol. Proteins that are only slightly shortened retain some function but partner less effectively with lipoproteins. Generally, the signs and symptoms of FHBL are worse if both versions of apolipoprotein B are severely shortened.

Mild or no signs and symptoms result when the proteins are only slightly shortened. All of these protein changes lead to a reduction of functional apolipoprotein B. As a result, the transportation of dietary fats and cholesterol is decreased or absent. Some people with FHBL do not have identified mutations in any of these genes. Changes in other, unidentified genes are likely involved in this condition.

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