Introduction: Familial Hypercholesterolemia (FH) is an autosomal co-dominant disorder characterized by elevated plasma levels of LDL-C with normal triglycerides, tendon xanthomas, and premature coronary atherosclerosis. This genetic disorder results due to mutation in the LDL receptor gene located on chromosome 19.
Case report: Here we report a case of 47 year old, unmarried female patient presented with history of chest pain on & off since one month and history of swellings over dorsum of hand & elbow joints since childhood. Detailed history revealed premature deaths in the family. Her lipid profile revealed increased LDL-C (479 mg/dl), 2D-Echo shows thickened aortic valve with mitral annular calcification. Carotid doppler study showed increased intima medial thickness in both carotid arteries. CAG revealed left main disease with multivessel disease.
Treatment: She Underwent CABG and was advised life style modification, treated with antiplatelets, statins (Rosuvastatin 40 mg OD) , Ezitimibe 10 mg OD, betablockers and ACE inhibitors and advised for follow up. Her lipid profile after 6 weeks showed modest decrease in total and LDL cholesterol. She was advised LDL apheresis and liver transplantation.
Conclusion: This report is to emphasise the need to clinically recognize xanthomas and its association with elevated LDL-C, premature atherosclerosis and familial inheritance. All the family members should be screened for dyslipidemia. Early diagnosis and early treatment can prevent premature deaths due to CAD.
Vishwanath Hesarur et al.2016, Familial Hypercholesterolemia: A Case Report And Review of Literature. Int J Recent Sci Res. 7(12), pp. 14709-14712.