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.
