Jain Xanthomas
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)
