Familial hypercholesterolemia (Decreased LDL receptor signaling)
Clinical Presentation: Achilles tendon xanthoma
Autosomal Dominant Diseases (Page 56)
Familial Dyslipidemias (Page 90)
Type II - Familial hypercholesterolemia; Inheritance: AD; Pathogenesis: Absent or defective LDL receptors
High Blood Level: IIa: LDL, cholesterol IIb: LDL, cholesterol,VLDL
Clinical: Heterozygotes (1:500) have cholesterol ≈ 300mg/dL; homozygotes (very rare) have cholesterol ≈ 700+ mg/dL. Accelerated atherosclerosis (may have MI before age 20), tendon (Achilles) xanthomas, and corneal arcus.
Hyperlipidemia Signs (Page 291)
Tendinous xanthoma: Lipid deposit in tendon, especially Achilles.