Tuberous xanthoma with cardiac failure in a child

Autor: Murali Narasimhan, Preethi Muthu, Ramachandran Ramakrishnan, V Sriram
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Journal of Family Medicine and Primary Care, Vol 11, Iss 6, Pp 3290-3292 (2022)
Druh dokumentu: article
ISSN: 2249-4863
DOI: 10.4103/jfmpc.jfmpc_1416_21
Popis: A 14-year-old girl presented with gradually progressive breathlessness for 3 weeks. On evaluation, it was found that she had left ventricular hypertrophy and nonprogressive R wave in ECG. An echocardiogram revealed aortic stenosis and severe left ventricular dysfunction.Computed Tomography (CT) imaging showed aortic annulus calcifications causing aortic stenosis. Over three years she had gradually developed asymptomatic cutaneous swellings over the small and large joints of the extremities suggestive of tuberous xanthomas. Skin biopsy revealed scattered foamy macrophages in the upper dermis and cholesterol clefts. Her lipid profile showed raised total cholesterol and low-density lipoprotein levels. With the above clinical, histological, and laboratory findings she was diagnosed as a case of familial homozygous hypercholesterolemia with tuberous xanthomas and cardiac failure. She was started on statins, ezetimibe, and other anti-failure measures. We present this case for its rarity. Early diagnosis of this condition based on skin findings, could have prevented cardiac failure by initiating early appropriate treatment.
Databáze: Directory of Open Access Journals
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