Jain Xanthomas

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Type IIa familial hypercholesterolemia

Also known as Familial defective apo B100 LDL receptor defect (mutation of LDLR or apo-B) ↑ risk CAD Clear serum ↑↑cholesterol (LDL)

Type V Hyperlipidemia

Apolipoprotein C-II defect +/- ↑ risk CAD Serum = creamy top layer ↑ ↑ TG, ↑cholesterol (VLDL, chylo)

Type III Familial Dysbetalipoproteinemia

Apoprotein E defect ↑ risk CAD Serum: Turbid ↑cholesterol, ↑TG (IDL, VLDL)

Type V Hyperlipidemia clinical

Eruptive xanthomas Acute pancreatitis Abdominal pain

Type IV familial hypertriglyceridemia clinical

Eruptive xanthomas DM, obesity, alcoholism

Type I Familial Hyperlipidemia Clinical Findings

Eruptive xanthomas, acute pancreatitis Abdominal pain, lipemia retinalis

Type I Familial Hyperlipidemia

Familial LPL deficiency ↓ Lipoprotein lipase (LPL) or apoprotein CII defect No increased CAD risk Serum = creamy top layer ↑ TG (chylomicrons)

Type IIb: Familial Combined Hyperlipidemia

LDL receptor defect ↑ risk of CAD Serum: clear or cloudy ↑cholesterol, ↑TG (LDL, VLDL)

Xanthoma disseminatum

Normolipemic patients Flexural predilection. Triad: 1)cutaneous and 2)mucosal xanthomas and 3)diabetes insipidus

Type IIb: Familial Combined Hyperlipidemia clinical

Tendinous and tuberous xanthomas Xanthelasma

Type IIa familial hypercholesterolemia clinical

Tendinous and tuberous xanthomas, xanthelasma Intertriginous = pathognomonic for Type IIa

Tendinous Xanthoma

Type II, III Achilles tendon > extensor tendons (hands, knees, elbows) May be 2/2 Hepatic cholestasis 2/2 primary biliary cirrhosis

Xanthelasma

Type II, III Plane xanthomas of eyelid Only 50% with hyperlipidemia

Tuberous xanthoma

Type II, III - HYPERCHOLESTEROLEMIA Extensor pressure surfaces (knees/elbows), slow to regress after treatment initiation

Xanthoma striatum palmare

Type III (Familial Dysbetalipoproteinemia)

Eruptive xanthomas

Types I, IV, V Do not confuse with xanthoma disseminatum Hypertriglyceridemic state >3000 mg/dl (buttocks = predilection) Diabetes, Pancreatitis, Chronic Renal Failure

Type III Familial Dysbetalipoproteinemia clinical

Xanthoma striatum palmare = pathognomonic Also see tuberous xanthomas

Type IV familial hypertriglyceridemia

↑ production of VLDL +/- ↑ risk of CAD Serum: Turbid ↑ TG (VLDL, IDL)


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