Sitosterolemia Exhibiting Severe Hypercholesterolemia with Tendon Xanthomas Due to Compound Heterozygous ABCG5 Gene Mutations Treated with Ezetimibe and Alirocumab.

We herein report a rare case presenting with severe hypercholesterolemia, massive Achilles tendon xanthomas, and multi-vessel coronary artery disease. Initially, the patient was misdiagnosed with familial hypercholesterolemia. However, a genetic analysis using our custom sequencing panel covering genes associated with Mendelian lipid disorders revealed him to have a genetic basis of sitosterolemia with compound heterozygous mutations in the adenosine triphosphate binding cassette subfamily G5 (ABCG5) gene.

An Acute Adverse Reaction with ST Elevation Induced by Magnetic Resonance Contrast Media: Kounis Syndrome.

A 78-year-old man with mild coronary arteriosclerosis on coronary CT angiography underwent MRI of the prostate with the administration of Gadolinium-based contrast agent (GBCA) (gadopentetate dimeglumine). He developed acute coronary syndrome immediately after the intravenous injection of GBCA, and recovered after the administration of nitroglycerine, atropine sulfate, and hydrocortisone. He was discharged on the ninth day of hospitalization without recurrent chest symptoms.