Hyperlipidemia differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Hardik Patel M.B.B.S.

Overview

Several conditions, such as 27-hydroxylase, deficiency and sitosterolemia produce tendon xanthomas that are similar to those produced by several types of hyperlipidemia. However, these occur with normal cholesterol levels and, therefore, can be easily differentiated from hyperlipidemia.

Differentiating Hyperlipidemia from other Diseases

• Several conditions such as 27-hydroxylase deficiency and sitosterolemia produce signs that are similar to those produced by familial hypercholesterolemia and familial defective apoB-100 and therefore it is important to differentiate them.

• 27-hydroxylase deficiency (cerebrotendinous xanthomatosis) occurs due to the deposition of both cholesterol and cholestanol. It causes tendon xanthomas similar to those produced by familial hypercholesterolemia and familial defective apoB-100. This rare disease also causes other abnormalities, such as ataxia, dementia, and cataracts with normal cholesterol levels and, therefore, it can be easily differentiated from hyperlipidemias.

• Sitosterolemia is a rare autosomal recessive disease, which occurs due to hyperabsorption of plant sterols. It may cause tendon xanthomas similar to those produced by familial hypercholesterolemia and familial defective apoB-100. However, cholesterol levels remain normal, allowing the disease to be easily differentiated from hyperlipidemia.