Homozygous familial hypercholesterolemia with cutaneous xanthomas in a child

Affiliations

¹ Department of Dermatology, Dr Ram Manohar Lohia Hospital & Atal Bihari Vajpayee Institute of Medical Sciences (ABVIMS), New Delhi, India.
² Department of Pediatrics, Dr Ram Manohar Lohia Hospital & Atal Bihari Vajpayee Institute of Medical Sciences (ABVIMS), New Delhi, India.
³ Department of Pathology, Dr Ram Manohar Lohia Hospital & Atal Bihari Vajpayee Institute of Medical Sciences (ABVIMS), New Delhi, India.

Comment

Pooja Arora et al. Int J Dermatol. 2022 Aug.

. 2022 Aug;61(8):e313-e316.

doi: 10.1111/ijd.16033. Epub 2022 Jan 4.

¹ Department of Dermatology, Dr Ram Manohar Lohia Hospital & Atal Bihari Vajpayee Institute of Medical Sciences (ABVIMS), New Delhi, India.
² Department of Pediatrics, Dr Ram Manohar Lohia Hospital & Atal Bihari Vajpayee Institute of Medical Sciences (ABVIMS), New Delhi, India.
³ Department of Pathology, Dr Ram Manohar Lohia Hospital & Atal Bihari Vajpayee Institute of Medical Sciences (ABVIMS), New Delhi, India.

No abstract available

Comment on

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.
Cuchel M, Bruckert E, Ginsberg HN, Raal FJ, Santos RD, Hegele RA, Kuivenhoven JA, Nordestgaard BG, Descamps OS, Steinhagen-Thiessen E, Tybjærg-Hansen A, Watts GF, Averna M, Boileau C, Borén J, Catapano AL, Defesche JC, Hovingh GK, Humphries SE, Kovanen PT, Masana L, Pajukanta P, Parhofer KG, Ray KK, Stalenhoef AF, Stroes E, Taskinen MR, Wiegman A, Wiklund O, Chapman MJ; European Atherosclerosis Society Consensus Panel on Familial Hypercholesterolaemia. Cuchel M, et al. Eur Heart J. 2014 Aug 21;35(32):2146-57. doi: 10.1093/eurheartj/ehu274. Epub 2014 Jul 22. Eur Heart J. 2014. PMID: 25053660 Free PMC article.

1. Wiegman A, Gidding SS, Watts GF, et al. Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment. Eur Heart J 2015; 36: 2425-2437.
1. Cuchel M, Bruckert E, Ginsberg HN, et al. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. Eur Heart J 2014; 35: 2146-2157.
1. Snozek CL, Lagerstedt SA, Khoo TK, et al. LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance. Eur J Hum Genet 2009; 17: 85-90.
1. Lozano P, Henrikson NB, Dunn J, et al. US Preventive Services Task Force Evidence Syntheses, formerly Systematic Evidence Reviews Lipid Screening in Childhood and Adolescence for Detection of Familial Hypercholesterolemia: A Systematic Evidence Review for the US Preventive Services Task Force Rockville (MD). US: Agency for Healthcare Research and Quality, 2016.
1. Raal FJ, Pilcher GJ, Panz VR, et al. Reduction in mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipid lowering therapy. Circulation 2011; 124: 2202-2207.