International Journal For Multidisciplinary Research

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Familial Hypercholesterolemia in India: Current Challenges in Diagnosis and Management

Author(s) Mr. Deepak Sharma, Mr. Ashish Bajpai, Dr. Rabari Kamlesh Karshan
Country India
Abstract Background: Familial hypercholesterolemia (FH) is a genetic lipid disorder with an autosomal dominant inheritance, characterized by lifelong elevations of low-density lipoprotein cholesterol (LDL-C) levels from early childhood. This lifelong exposure to high LDL-C markedly increases the risk of premature atherosclerotic cardiovascular disease (ASCVD). Although globally affecting approximately 1 in 250 individuals, FH remains significantly under-recognized in India, where millions are likely affected but remain undiagnosed.

Review: This narrative review summarizes current evidence regarding the epidemiology, genetic basis, diagnostic approaches, clinical manifestations, and management strategies of FH in the Indian population. Existing challenges, including limited physician awareness, inadequate access to genetic testing, lack of nationwide screening programs, and financial barriers to advanced lipid-lowering therapies, are also discussed. Recent advances in therapeutic options and the importance of cascade screening and national registries are highlighted.


Conclusion: India faces a critical gap in the identification and management of FH. Immediate priorities include physician education, implementing cascade screening, expanding affordable genetic testing, and establishing a nationwide FH registry. Recent lipid-lowering therapies such as PCSK9 inhibitors, inclisiran, bempedoic acid, and evinacumab have shown considerable benefit in managing resistant cases; however, their widespread use is limited by high treatment costs.
Keywords Familial hypercholesterolemia, LDL receptor, LDLR mutations, PCSK9, cascade screening, premature coronary artery disease, lipid-lowering therapy, genetic testing, cardiovascular risk
Field Biology > Bio + Chemistry
Published In Volume 8, Issue 4, July-August 2026
Published On 2026-07-07
DOI https://doi.org/10.36948/ijfmr.2026.v08i04.81907
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CrossRef DOI prefix of IJFMR is 10.36948/ijfmr

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