Spontaneous coronary artery dissection in a patient with cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disease characterized by the formation of xanthomatous lesions in many tissues, particularly the brain and tendons. The disorder is a consequence of the reduced production of bile acids, predominantly chenodeoxycholic acid (CDCA), and an increased formation of cholestanol. Common clinical manifestations include infant-onset diarrhea and juvenile-onset bilateral cataract, usually followed by tendon xanthomas and progressive neurological dysfunction. The final diagnosis is based on biochemical abnormalities, including elevated plasma cholestanol level and increased levels of bile alcohol in urine associated with a diminished biliary concentration of CDCA. The treatment is based on oral supplementation of CDCA, which, if initiated early, can prevent major clinical problems, as it produces a reduction in cholestanol synthesis and plasma levels. Spontaneous coronary artery dissection (SCAD) is defined as a non-traumatic separation of the coronary arterial wall, creating a false lumen, which leads to blood flow reduction. Although there are other systemic conditions that make the coronary vessel wall vulnerable to this condition, in patients with atherosclerotic coronary artery disease, the rupture of a thin-cap fibroatheroma might lead to SCAD. We describe a case report of a patient diagnosed with CTX who showed cardiac impairment due to SCAD. (author)