ACTA ENDOCRINOLOGICA (BUC)

The International Journal of Romanian Society of Endocrinology / Registered in 1938

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Acta Endocrinologica(Bucharest) is live in PubMed Central

July - September 2019, Volume 15, Issue 3
Case Report


Constantin AT, Covacescu SM, Kozma A, Gherghina I, Lazarescu H

Statins Treatment and Oro-Dental Aspects in a Case of Hereditary Hypercholesterolemia in a Child Under 6 Years

Acta Endo (Buc) 2019, 15 (3): 378-383
doi: 10.4183/aeb.2019.378

Familial hypercholesterolemia (FH) is a genetic disease with autosomal dominant transmission, characterised by high blood cholesterol levels. The evolution of this disease leads to primary atherosclerosis and cardiovascular disease. Patients with HF develop atherosclerosis by the age of 20 and usually do not survive past the age of 30. We present the case and oro-dental aspects of a preschooler that was diagnosed at the age of 4 with FH, compound heterozygote (mutation/genotype1 LDLR: C20IX, exon 4; mutation/ genotype2 LDLR: G571E, exon 12) and the experience of our clinic in the management of this patient that received offlabel treatment with statins. When diagnosed, his cholesterol level was 932 mg/dL and his LDL-cholesterol level was 792 mg/dL. Treatment with rosuvastatin and ezetimibe was prescribed. Both substances (rosuvastatin and ezetimibe) are not approved for children under the age of 6 in Europe. Taking into considerations the diagnosis and prognosis for unfavorable evolution, treatment with statins was started at the age of 5 years.

Keywords: hereditary hypercholesterolemia, statins, dental eruption retard.

Correspondence: Andrei Kozma MD, “Alessandrescu-Rusescu” National Institute for Mother and Child Health - Department of Research in Social Pediatrics and Obstetrics, Bucharest, Romania, E-mail: dr.ka.mailbox@gmail.com