Clinical manifestations of familial hypercholesterolemia: a case series
DOI:
https://doi.org/10.18203/2349-3933.ijam20212110Keywords:
Familial hypercholesterolemia, Low density lipoprotein receptors, Xanthelasma palpebrarum tendon and tuberous xanthomas, Premature coronary artery disease, Supravalvular aortic stenosisAbstract
Familial hypercholesterolemia is a rare, monogenic, co-dominant, life-threatening disorder resulting from loss of function mutations in the genes responsible for synthesis of low-density lipoprotein receptors or apo-B genes or gain of function mutations in PCSK9 genes in the liver which affects 0.2% of the population. It is characterized by severe lifelong elevation of LDL cholesterol and by development of xanthelasma, xanthomas, premature coronary artery disease and peripheral artery occlusive disease. Most patients develop PCAD and aortic stenosis before the age of 20 years and die before 30 years of age. The diagnosis of FH is usually based on clinical presentation and commonly used criteria are the Dutch lipid clinic network criteria, Simon Broome criteria or the WHO criteria. We encountered four cases of familial hypercholesterolemia over last 10 years. All the four patients presented with effort angina and all were found to have obstructive coronary artery disease oncoronary angiogram and two of them had severe supravalvular aortic stenosis. All four patients were on dietary modifications, high intensity statin and cholesterol absorption inhibitor. Two patients underwent coronary artery bypass grafting with aortoplasty, one patient underwent coronary artery bypass grafting and one patient underwent percutaneous transluminal coronary angioplasty. Familial hypercholesterolemia leads to development of life-threatening manifestations early in the second and third decades of life. Early diagnosis, aggressive treatment and control of risk factors and cascade screening are important in management and will help to reduce the morbidity and mortality associated with this disease.
References
Brautbar A, Leary E, Rasmussen K, Wilson DP, Steiner RD, Virani S. Genetics of familial hypercholesterolemia. Curr Atheroscler Rep. 2015;17(4):491.
Di Taranto MD, Giacobbe C, Buonaiuto A, Calcaterra I, Palma D, Maione G, et al. A real-world experience of clinical, biochemical and genetic assessment of patients with homozygous familial hypercholesterolemia. J Clin Med. 2020;9(1):219.
Cuchel M, Bruckert E, Ginsberg HN, Raal FJ, Santos RD, Hegele RA, et al. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. Eur Heart J. 2014;35(32):2146-57.
Palacio CH, Harring TR, Nguyen NT, Goss JA, O'Mahony CA. Homozygous familial hypercholesterolemia: case series and review of the literature. Case Rep Transplant. 2011;2011:154908.
ESC Guidelines on Dyslipidaemias. Available at: https://www.escardio.org/Guidelines/Clinical-Practice-Guidelines/Dyslipidaemias-Management. Accessed on 8 November 2020.
Pérez de Isla L, Alonso R, Mata N, Saltijeral A, Muñiz O, Rubio-Marin P, et al. Coronary heart disease, peripheral arterial disease, and stroke in familial hypercholesterolaemia: insights from the SAFEHEART registry. Arterioscler Thromb Vasc Biol. 2016;36(9):2004-10.
Casula M, Olmastroni E, Pirillo A, Catapano AL. Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study. Atherosclerosis. 2018;277:413-8.
Cuchel M, Bruckert E, Ginsberg HN, Raal FJ, Santos RD, Hegele RA, et al. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. Eur Heart J. 2014;35(32):2146-57.
Raal FJ, Santos RD. Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment. Atherosclerosis. 2012;223(2):262-8.
Ogura M. PCSK9 inhibition in the management of familial hypercholesterolemia. J Cardiol. 2018;71(1):1-7.
