CARDIOVASCULAR JOURNAL OF AFRICA • Vol 24, No 8, September 2013
e8
AFRICA
Case Report
Diffuse giant tendon xanthomas in a patient with familial
hypercholesterolaemia
SERKAN YUKSEL, ESRA PANCAR YUKSEL
Abstract
Familial hypercholesterolaemia is a genetic disease that
provides the best evidence for the causal role of low-density
lipoprotein cholesterol in human atherosclerosis. The disease
was first described by Muller in 1939 and is characterised by
high cholesterol levels from birth, and the subsequent devel-
opment of tendon and cutaneous xanthomas and premature
atherosclerosis. In this case report, we described an 18-year-
old female patient who was admitted to the out-patient clinic
with swellings on various parts of her body. Her family histo-
ry, physical examination and laboratory evaluation revealed
that these swellings were giant tendon xanthomas caused by
familial hypercholesterolaemia. In this report we also discuss
the pathogenesis, clinical manifestations, complications and
treatment of familial hypercholesterolaemia.
Keywords:
familial hypercholesterolaemia, xanthelesma,
xanthoma
Submitted 9/1/13, accepted 14/8/13
Published online 9/10/13
Cardiovasc J Afr
2013;
24
: e8–e9
DOI: 10.5830/CVJA-2013-057
The primary dyslipidaemias are associated with overproduction
and/or impaired removal of lipoproteins. The defect can be
induced by an abnormality in either the lipoprotein itself or the
lipoprotein receptor, and it is often familial.
Familialhypercholesterolaemia(FH)isageneticallymodulated
clinical syndrome in which the phenotype is characterised by
high low-density lipoprotein cholesterol (LDL-C) levels from
birth, a tendency to develop tendon xanthomas, and early onset
coronary artery disease (CAD), which often develops in the
absence of other risk factors. LDL receptor (LDL-R) gene
mutations are most often the cause of this disease.
1,2
Diagnosis requires the patient’s detailed family and personal
history, physical examination, and chemical analysis of the
blood. It is important not only for the prognosis of the patient,
but also has implications for family members who may have the
same inherited disorder.
1
In this case report, we present a patient with giant tendon
xanthomas, high cholesterol levels and a strong family history of
early onset CAD caused by FH.
Case report
An 18-year-old female patient was admitted to the dermatology
clinic because of swellings on various parts of her body. These
swellings were painless and had been present for about 10 years.
Surgical excision had been tried but they had recurred soon
thereafter.
A family history of the patient revealed that both her mother
and elder sister had early onset CAD. Her mother underwent a
coronary artery bypass graft (CABG) operation when she was 35
years old and the elder sister had two separate CABG operations
when she was younger than 30 years old. Furthermore, her elder
sister had severe valvular aortic stenosis.
In her dermatological examination there were xanthelasmas
on the medial canthus of both eyes. Xanthomas were present in
varying sizes on the lateral and medial sides of her fingers, both
elbows, the lateral sides of both feet, the back of her ankles and
both knees (Fig. 1).
Blood biochemical evaluation revealed that the level of
total cholesterol was 687 mg/dl, LDL-C was 635.9 mg/dl,
triglycerides (TG) was 50 mg/dl and high-density lipoprotein
(HDL) cholesterol was 41.1 mg/dl. Other laboratory tests,
including thyroid function, were normal. In the histopathological
examination of the punch biopsy specimen of the xanthomas,
Cardiology Department, Faculty of Medicine, Ondokuz
Mayis University, Samsun, Turkey
SERKAN YUKSEL, MD,
Dermatology Department, Faculty of Medicine, Ondokuz
Mayis University Samsun, Turkey
ESRA PANCAR YUKSEL, MD
Fig. 1. Xanthomas on the lateral and medial sides of the
fingers, elbows, knees and Achilles tendons.
