Pathologic change: fragmentation of elastic fibers in the arterial wall (internal and external elastic lamina, media) with dystrophic calcification and luminal narrowing
Clinical features:
(1) decreased peripheral pulses
(2) intermittent claudication in the lower extremities
(3) hypertension associated with changes in the renal arteries
(4) coronary artery diseaes
(5) cerebrovascular disease
(6) intestinal angina
(7) sudden death
The disease is most striking when it affects a young patient with no risk factors for atherosclerotic disease.
Imaging studies in limbs show a calcified distal arteriopathy.
A patient with possible PXE should be evaluated for family history, angioid streaks on fundoscopic exam and yellowish papules/plaques on the neck or flexural surfaces of major joints. The presence of a mutation in ABCC6 confirms the diagnosis.
