Xanthomatosis: An Insight to Familial Hypercholesterolemia
| Autor: | Jaya Manchanda, Ritu Gogia, Sanjay Gogia, A.K.Verma |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: | |
| Zdroj: | National Journal of Laboratory Medicine, Vol 5, Iss 1, Pp 30-32 (2016) |
| Druh dokumentu: | article |
| ISSN: | 2277-8551 2455-6882 |
| DOI: | 10.7860/NJLM/2016/15619:2093 |
| Popis: | Familial hypercholesterolemia is a “RECEPTOR DISEASE” that is the consequence of a mutation in the gene encoding the receptor for low-density lipoprotein, which is involved in the transport and metabolism of cholesterol. It is associated with skin and tendon xanthomas, xanthelasma, premature arcus corneae and increased risk of premature coronary heart disease. Here the author present a case of 10 years old boy who presented with xanthomas and an elevated serum low density lipoprotein. His father had similar clinical history. The subject was Fredericks Phenotype II A – with increased LDL cholesterol. This report is to emphasise the need to screen first-degree relatives and extended family members as early intervention and diagnosis will save the affected individual from catastrophic cardiac events. |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
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