Literature DB >> 32010359

STATINS TREATMENT AND ORO-DENTAL ASPECTS IN A CASE OF HEREDITARY HYPERCHOLESTEROLEMIA IN A CHILD UNDER 6 YEARS.

A T Constantin1, S M Covacescu1, A Kozma2,3, I Gherghina1, H Lazarescu3.   

Abstract

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 off-label 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. ©by Acta Endocrinologica Foundation.

Entities:  

Keywords:  dental eruption retard; hereditary hypercholesterolemia; statins

Year:  2019        PMID: 32010359      PMCID: PMC6992394          DOI: 10.4183/aeb.2019.378

Source DB:  PubMed          Journal:  Acta Endocrinol (Buchar)        ISSN: 1841-0987            Impact factor:   0.877


  28 in total

Review 1.  Pathogenesis, detection and treatment of Achilles tendon xanthomas.

Authors:  S G Tsouli; D N Kiortsis; M I Argyropoulou; D P Mikhailidis; M S Elisaf
Journal:  Eur J Clin Invest       Date:  2005-04       Impact factor: 4.686

2.  Getting Real With PCSK9 Inhibitors in Familial Hypercholesterolemia.

Authors:  Alexis Baass; Robert A Hegele
Journal:  Can J Cardiol       Date:  2018-05-09       Impact factor: 5.223

3.  Effect of Statin Therapy in 4-Year-Old Dichorionic Diamniotic Twins with Familial Hypercholesterolemia Showing Multiple Xanthomas.

Authors:  Yoshitsune Miyagi; Mariko Harada-Shiba; Takao Ohta
Journal:  J Atheroscler Thromb       Date:  2015-10-27       Impact factor: 4.928

Review 4.  Statins for children with familial hypercholesterolemia.

Authors:  Alpo Vuorio; Jaana Kuoppala; Petri T Kovanen; Steve E Humphries; Timo Strandberg; Serena Tonstad; Helena Gylling
Journal:  Cochrane Database Syst Rev       Date:  2010-07-07

Review 5.  Apheresis for severe hypercholesterolaemia and elevated lipoprotein(a).

Authors:  Elisa Waldmann; Klaus G Parhofer
Journal:  Pathology       Date:  2019-01-02       Impact factor: 5.306

Review 6.  Familial hypercholesterolemia treatments: Guidelines and new therapies.

Authors:  Frederick J Raal; G Kees Hovingh; Alberico L Catapano
Journal:  Atherosclerosis       Date:  2018-10       Impact factor: 5.162

7.  DIAgnosis and Management Of familial hypercholesterolemia in a Nationwide Design (DIAMOND-FH): Prevalence in Switzerland, clinical characteristics and the diagnostic value of clinical scores.

Authors:  A R Miserez; F J Martin; D Spirk
Journal:  Atherosclerosis       Date:  2018-10       Impact factor: 5.162

8.  Severe xanthomatosis in heterozygous familial hypercholesterolemia.

Authors:  Sumayah Aljenedil; Isabelle Ruel; Kevin Watters; Jacques Genest
Journal:  J Clin Lipidol       Date:  2018-04-03       Impact factor: 4.766

9.  Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society.

Authors:  Børge G Nordestgaard; M John Chapman; Steve E Humphries; Henry N Ginsberg; Luis Masana; Olivier S Descamps; Olov Wiklund; Robert A Hegele; Frederick J Raal; Joep C Defesche; Albert Wiegman; Raul D Santos; Gerald F Watts; Klaus G Parhofer; G Kees Hovingh; Petri T Kovanen; Catherine Boileau; Maurizio Averna; Jan Borén; Eric Bruckert; Alberico L Catapano; Jan Albert Kuivenhoven; Päivi Pajukanta; Kausik Ray; Anton F H Stalenhoef; Erik Stroes; Marja-Riitta Taskinen; Anne Tybjærg-Hansen
Journal:  Eur Heart J       Date:  2013-08-15       Impact factor: 29.983

10.  CRISPR Correction of a Homozygous Low-Density Lipoprotein Receptor Mutation in Familial Hypercholesterolemia Induced Pluripotent Stem Cells.

Authors:  Linda Omer; Elizabeth A Hudson; Shirong Zheng; James B Hoying; Yuan Shan; Nolan L Boyd
Journal:  Hepatol Commun       Date:  2017-10-16
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