International Journal of Science and Research (IJSR)

International Journal of Science and Research (IJSR)
Call for Papers | Fully Refereed | Open Access | Double Blind Peer Reviewed

ISSN: 2319-7064


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Case Studies | Medical Science | India | Volume 9 Issue 11, November 2020


Familial Hypercholesterolemia: Case Report

Dr Pritish Ingole [2] | Dr Ajeya Ukadgaonkar | Dr Ashish Deshpande [2]


Abstract: The following report is of a patient who came for a routine OPD visit with complaint of breathlessness on exertion. On thorough clinical examination the patient had distinct features such as - Presence of xanthelasma, corneal arcus, multiple tuberous xanthomas present bilaterally over shoulder joints, elbow joints, buttocks and knee joints. Serum cholesterol levels were highly raised. Coronary angiography revealed calcified coronaries with triple vessel involvement. The patient had LV dysfunction. Genetic testing and skin biopsy was also done. The patient was discharged on optimal medical management.


Keywords: Familial Hypercholesterolemia, OPD, exertion, xanthelasma, corneal arcus


Edition: Volume 9 Issue 11, November 2020,


Pages: 1175 - 1179


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