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Incidence of Cardiovascular Disease in Patients with Familial Hypercholesterolemia Phenotype: Analysis of 5 Years Follow-Up of Real-World Data from More than 1.5 Million Patients
Open AccessArticle

A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia

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Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, 80131 Naples, Italy
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CEINGE S.C.a r.l. Biotecnologie Avanzate, 80131 Naples, Italy
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Dipartimento di Medicina Clinica e Chirurgia, Università degli Studi di Napoli Federico II, 80131 Naples, Italy
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Dipartimento di Scienze Mediche Traslazionali, Università degli Studi di Napoli Federico II, 80131 Naples, Italy
*
Authors to whom correspondence should be addressed.
J. Clin. Med. 2020, 9(1), 219; https://doi.org/10.3390/jcm9010219
Received: 10 December 2019 / Revised: 30 December 2019 / Accepted: 10 January 2020 / Published: 14 January 2020
(This article belongs to the Special Issue Genetics of Hereditary Heart Diseases)
Homozygous familial hypercholesterolemia (HoFH), the severest form of familial hypercholesterolemia (FH), is characterized by very high LDL-cholesterol levels and a high frequency of coronary heart disease. The disease is caused by the presence of either a pathogenic variant at homozygous status or of two pathogenic variants at compound heterozygous status in the LDLR, APOB, PCSK9 genes. We retrospectively analyzed data of 23 HoFH patients (four children and 19 adults) identified during the genetic screening of 724 FH patients. Genetic screening was performed by sequencing FH causative genes and identifying large rearrangements of LDLR. Among the HoFH patients, four out of 23 (17.4%) were true homozygotes, whereas 19 out of 23 (82.6%) were compound heterozygotes for variants in the LDLR gene. Basal LDL-cholesterol was 12.9 ± 2.9 mmol/L. LDL-cholesterol levels decreased to 7.2 ± 1.8 mmol/L when treated with statin/ezetimibe and to 5.1 ± 3.1 mmol/L with anti-PCSK9 antibodies. Homozygous patients showed higher basal LDL-cholesterol and a poorer response to therapy compared with compound heterozygotes. Since 19 unrelated patients were identified in the Campania region (6,000,000 inhabitants) in southern Italy, the regional prevalence of HoFH was estimated to be at least 1:320,000. In conclusion, our results revealed a worse phenotype for homozygotes compared with compound heterozygotes, thereby highlighting the role of genetic screening in differentiating one genetic status from the other. View Full-Text
Keywords: homozygous familial hypercholesterolemia (HoFH); LDLR pathogenic variants; genetic screening; LDL-cholesterol; coronary heart disease; familial hypercholesterolemia prevalence homozygous familial hypercholesterolemia (HoFH); LDLR pathogenic variants; genetic screening; LDL-cholesterol; coronary heart disease; familial hypercholesterolemia prevalence
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Di Taranto, M.D.; Giacobbe, C.; Buonaiuto, A.; Calcaterra, I.; Palma, D.; Maione, G.; Iannuzzo, G.; Di Minno, M.N.D.; Rubba, P.; Fortunato, G. A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia. J. Clin. Med. 2020, 9, 219.

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