Download Physical Findings in Lipid Disorders

Physical Findings in Lipid Disorders
1. Lipemia retinalis is a rare physical finding which
happens with severe hypertriglyceridemia (usually with
triglyceride level greater than 2000mg/dL). It was originally
described in Familial Chylomicronemia. It is characterized
by white discoloration of the retinal vessels seen when
the eyes are examined with a ophthalmoscope. Typically,
lipemia retinalis is asymptomatic and doesn’t cause
vision changes; however it can reflect the risk of acute
pancreatitis. This condition is reversible if the triglyceride
level is reduced.
2. Eruptive xanthomas are small bumps with yellowish
tips and dark pink bases that appear mainly over the chest,
shoulders, buttocks, and extensor surfaces of the upper
limbs. It is associated with very high triglyceride levels
(triglyceride level greater than 2000mg/dL), that occur in
conditions such as in Familial Hypertriglyceridemia and
Familial Chylomicronemia. The bumps resolve completely
after lowering the triglyceride level, but may cause
permanent darkening of the skin in those affected areas.
3. Tendon xanthomas are
nodular accumulations of
cholesterol that occur in genetic
disorders associated with severely
elevated low density lipoprotein
cholesterol (LDL-C). It appears
most commonly in patients with
Familial Hypercholesterolemia,
and Familial Defective Apo
B-100, but also can appear in
Beta Sitosterolemia. The Achilles
tendon is the most common site, however cholesterol can
deposit in other extensor tendons in the hands and feet.
Achilles tendon xanthomas can sometimes be tender and
can be diagnosed by palpating the Achilles tendon, but
the diagnosis can be confirmed by biopsy. Management
focuses on treating underlying hypercholesterolemia and
improvement can occur with intensive therapy.
4. Xanthelasma are yellow plaques that usually occur
near the inner part of the eyelids. They are associated with
abnormal lipid levels and may not go away after treatment.
Patients are often concerned by their appearance.
5. Corneal arcus
is an eye condition
characterized by grayish
clouding in the cornea.
It presents in Familial
Hypercholesterolemia,
Familial Defective
Apo B-100 and
Dysbetalipoproteinemia.
It appears before the age of 50, and should be
distinguished from the arcus that can occur with advanced
age; in this case it is called “arcus senilis” and may not be
associated with high LDL-C.
6. Tangier’s tonsils are enlarged orange color tonsils
that appear in patients with Tangier disease (defective
ABCA1). It occurs due to accumulation of cholesterol in the
reticuloendothelial tissues. Patients with Tangier disease
have very low levels of high density lipoprotein cholesterol
(HDL-C usually less than 5mg/dL).
7. Palmar xanthomas are yellowish lesions that can
look like bumps or lines found in the creases of the
palms. This is found in Dysbetalipoproteinemia. Very
low-density lipoprotein (VLDL-C) is elevated and the
patient usually has very high triglycerides and total
cholesterol. Dysbetalipoproteinemia increases the risk for
atherosclerosis.
8. Tuberous xanthomas
are non-tender nodules
which appear usually in
pressure areas such as
the elbows and knees.
They are associated
most commonly with
autosomal dominant
hypercholesterolemias and also with Beta Sitosterolemia.
Management focuses on treating underlying
hypercholesterolemia, and they can improve with intensive
therapy.
—Bashar Ababneh, MD
—Vanessa Milne, MS, NP
* Special thanks go to Paul Hopkins, MD,
for allowing us to publish his FH photos.
Name:_______________________________ Date:___________ Health Care Provider:________________________________
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