Indian Journal of Dermatology
: 2006  |  Volume : 51  |  Issue : 3  |  Page : 204--206

Familial hypercholesterolemia with multiple cutaneous xanthomas

BSN Reddy, SN Chaudhuri 
 Department of Dermatology, Venereology and Leprology, Mamata Medical College and General Hospital, Khammam - 507 002, India

Correspondence Address:
BSN Reddy
Department of Dermatology, Venereology and Leprology, Mamata Medical College and General Hospital, Khammam - 507002


An interesting episode of homozygous familial hypercholesterolemia affecting four children born to a consanguinous parents belonging to two different families is reported for its rarity. The patients had multiple cutaneous xanthomas including the characteristic xanthoma tendinosum, xanthoma interosseum, xanthoma tuberosum, and xanthelasma palpebrarum. Prominent corneal arcus juvenalis has been noted in three children. Gross elevation of serum levels of low density lipoprotein cholesterol (LDLc) with normal values of triglycerides have been found in all patients. They have been prescribed medication with oral tablets of simvastatin and advised fat restricted diet and regular follow up in the clinic at periodic intervals.

How to cite this article:
Reddy B, Chaudhuri S N. Familial hypercholesterolemia with multiple cutaneous xanthomas.Indian J Dermatol 2006;51:204-206

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Reddy B, Chaudhuri S N. Familial hypercholesterolemia with multiple cutaneous xanthomas. Indian J Dermatol [serial online] 2006 [cited 2022 Dec 4 ];51:204-206
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Familial hypercholesterolemia (FH) is an autosomal dominant disorder of lipid metabolism, characterized by elevated level of low density lipoprotein cholesterol (LDLC), tendinous xanthomas and a family history of premature atherosclerosis.[1] These patients are at a high risk of developing coronary artery disease and sudden death unless the condition is recognized and treated promptly.[2] We report four patients of homozygous familial hypercholesterolemia born to consanguinous parents for academic interest and rarity. The clinical and lipid abnormalities of these patients have been summarized in [Table 1]. After consultation with the cardiologist, they have been prescribed oral medication with simvastatin in the dosage of 5 to 20 mg per day and fat restricted diet. Their parents have been counseled about the facts related to the disease and advised to bring the children for regular follow up.

 Case Report

Described in [Table 1]

A diagnosis of hyperlipoproteinemia type IIa has been made after excluding secondary causes in our patients on the basis of family history, presence of characteristic cutaneous xanthomas (tendinous and interosseum) since childhood and elevated serum levels of LDLc. Xanthomas represent localised infiltrates of lipid (cholesterol and cholesterol esters) containing histiocytic foam cells in the skin similar to the changes observed in the blood vessels of atherosclerotic patients. Tendinous xanthomas are the hallmark of the disease and occur especially over the extensor tendons of hands or tendo-achilles.[3] Ultrasonography helps in their detection with demonstration of hypoechoic areas. X. tendinosum (xanthoma tendinosum) has been noted in all our patients clinically and also confirmed with ultrasonogram [Figure 5]. In addition, two of our patients had small, yellowish plaques (X. interosseum) in the interdigital webs of hands and feet. X. interosseum is an uncommon but well established and pathognomoic feature seen in FH patients.[4]

FH in heterozygous state occurs with a prevalence of approximately 1 in 500 individuals, manifesting clinically between third to sixth decade without tendinous and interosseus xanthomas. In contrast, FH with homozygous state occurs very rarely with a prevalence of 1 in million persons. The LDL receptors affect the serum cholesterol levels directly. They are either absent or grossly malfunctioning in FH. LDLc is removed from the plasma in the heterozygous state at two-third of normal rate, resulting in two to three fold elevation of LDLC i.e., around 300 mg/dl, whereas in homozygous state, it is removed at one-third of normal rate resulting six to eight fold elevation of plasma LDL i.e., 700 mg/dl. Clinically the homozygous individuals develop arcus juvenalis and cutaneous xanthomas during early childhood and cardiovascular abnormalities in the second or third decade of life. Our patients are in the age group of 7 to 17 yrs and represent the homozygous state because they possess all these features except CVS abnormalities, which usually manifest in the second or third decade. Similar instances of homozygous FH have been reported by others also.[5],[6]

It is important to start aggressive and early treatment in patients of FH to prevent serious ischaemic episodes of CVS and high mortality. Statins are the most effective and universally prescribed cholesterol lowering drugs which inhibit HMG CoA reductase, the rate limiting enzyme in cholesterol synthesis.[7] This effect can be further enhanced by combining statins with bile acid sequestrants such as cholestyramine 2 g and fat restricted diet. Our patients have been advised medication with simvastatin in the dosage of 5 to 20 mg daily with fat restricted diet. Further followup will make clear the effect of simvastatin in lowering the serum levels of LDLc, reducing the size of xanthomas and preventing the complications such as coronary episodes and premature death.


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