Keywords
Pharmacological treatment
Cholesterol
LDL
Mutation
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Abstract
Purpose: Report the C681X mutation impact in the treatment of homozygous familial hypercholesterolemia. Case detail: Patient, male, 17 years old, with history of high cholesterol (LDL-c: 760 mg/dl), tuberous xanthomas and corneal arches since the age of seven. Genetic testing confirmed homozygous C681X mutation in LDL receptor, no cardiovascular changes. Father, mother, brother had hypercholesterolemia with LDL-c >190mg/dl. Maternal grandmother and uncle died of acute myocardial infarction before age 50. He was started on Atorvastatin 40mg/day and Ezetimibe 10mg/day. Later, Atorvastatin was changed by Rosuvastatin 40 mg/day. At age 11, started triple therapy with Mipomersen 200mg, showed adequate response after 1 year. The drug was discontinued due to its low safety for his age, increasing LDL-c levels. At 13, he used Evolocumab (PCSK9 inhibitor), at 140mg, associated with Rosuvastatin and Ezetimibe. One year later, on triple therapy, the results were TC: 561 mg/dL; HDL-c: 27 mg/dL; LDL-c: 512 mg/dL; and TG: 110 mg/dL. Final considerations: The patient returned after 3 years of no appointments, taking Atorvastatin 40mg/day, Ezetimibe 10mg/day, and Evolocumab 140mg every 15 days, without adequate control. medication adjustment was performed and the patient was referred to multidisciplinary follow-up.
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