Tuberous xanthoma are large plaque like lesions of the subcutis usually located on the buttocks, elbows, knees and fingers and seen with type IIa or III hyperlipoproteinemia.
Tuberous xanthomas have regressed on medical therapy alone.
Tuberous xanthomas or xanthelasmas are waxy-appearing growths that may look yellow or orange and appear to be pasted on the skin in areas around the face, commonly the eyelids.
All patients should be screened by age 20 Strongly suspect FH (and obtain lipid measurements) in patients with: * Tendon xanthomas at any age (most common in Achilles tendon and finger extensor tendons, but also can occur in patellar and triceps tendons) * Tuberous xanthomas or xanthelasma in patients younger than age 20 to 25 * Arcus corneae in patients younger than age 45 Strongly consider a diagnosis of FH and obtain further family information in patients with the following LDL levels: * [greater than or equal to] 250 mg/dL in those age [greater than or equal to] 30 * [greater than or equal to] 220 mg/dL in those age 20 to 29 * [greater than or equal to] 190 mg/dL in those age <20 FH, familial hypercholesterolemia; HDL, high-density lipoprotein; LDL, low-density lipoprotein.
The patient's physical examination revealed tendinous and tuberous xanthomas [Figures 3 & 4], stria palmaris and arcus juveniles.
Figure 4: Photograph showing tuberous xanthomas on the buttocks.
When the disease does manifest, patients typically develop palmar xanthomas, which appear as a yellowish discoloration of the hand and finger creases, and tuberous xanthomas
, which are bulbous cutaneous growths located on the elbows and knees.
10) TABLE 2 Primary hyperlipidemia Genetic disorder (Frederickson type) Typical clinical findings Familial lipoprotein lipase Eruptive xanthomas, deficiency (type I) hepatosplenomegaly, pancreatitis Familial apoprotein C-II Eruptive xanthomas, deficiency (type I) hepatosplenomegaly, pancreatitis Familial combined Coronary or peripheral hyperlipidemia (type IIb) atherosclerosis Familial Palmar and tuberous xanthomas
, dysbetalipoproteinemia (type coronary or peripheral III) atherosclerosis Familial hypertriglyceridemia Eruptive xanthomas (type V) (type IV or V) Adapted from: Rader DJ, Hobbs HH.