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A 10-year-old boy product of consangui-neous
marriage, was admitted with a 1-year history of exercise intolerance and
palpitation. His elder brother aged 20 years had arcus cornea. On
physical examination, the weight and height of the child were below the
3rd percentile. Bilateral arcus cornea was seen (Fig.
1). He had tachycardia, an
ejection click (III/VI grade) on 2nd intercostal space at the left
sternal border and 3 cm hepatomegaly. Two cutaneous xanthomas
(approximately 1 ´
1 cm) were present on the right knee region (Fig. 2). Xanthomas
were also noted on Achilles tendons. Laboratory studies revealed:
triglyceride - 187 mg/dl, total cholesterol - 958 mg/dl, LDL cholesterol
- 902 mg/dl, HDL cholesterol - 14 mg/dl, and VLDL cholesterol - 37
mg/dl. On lipoprotein electrophoresis, beta-lipoprotein was 75.1%,
prebeta-lipoprotein was 10.4% and alpha-lipoprotein was 14.5%.
Echocardiographic examination showed mild aortic stenosis, aortic
imcompetence and an atheromatous plaque on the aorta. Laboratory study
of his father revealed; triglyceride - 150 mg/dl, total cholesterol -
531 mg/dl, LDL cholesterol - 450 mg/dl, HDL cholesterol - 51 mg/dl,
beta-lipoprotein - 63%, prebeta-lipoprotein - 21.9% and alphalipoprotein
- 14.3%. The mothers triglyceride was 107 mg/dl, total cholesterol
was 515 mg/dl, LDL cholesterol was 435 mg/dl and HDL cholesterol was 59
mg/dl.
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| Fig. 1. Photograph showing bilateral
arcus cornea.
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| Fig. 2. Two cutaneous xanthomas on the
right knee region.
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Homozygous familial hypercholestero-lemia (FH) occurs
in approximately one in one million persons worldwide and is a much more
severe clinical disorder than heterozygous FH. Patients with homozygous
FH often present in childhood with cutaneous xanthomas on hands, wrists,
elbows, knees, heels or buttocks. Arcus cornea may be present. Total
cholesterol levels are usually greater than 500 mg/dl, and can be as
high as 1200 mg/dl. The major complication of homozygous FH is
accelerated athero-sclerosis, which can result in clinical sequelae even
in childhood. Untreated receptor-negative homozygous FH patients rarely
survive beyond the 2nd decade; receptor-defective patients have a better
prognosis but invariably experience clinical atherosclerotic vascular
disease by age 30 and often much sooner.
Yasar Cesur,
Hüseyin Çaksen,
Department of Pediatrics,
Yüzüncü Yil University,
Faculty of Medicine,
Van, Turkey.
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