Abstract

Familial Hypercholesterolaemia (FH) is the most common monogenic disorder causing premature Coronary Artery Disease (CAD). However, the majority of people with FH are undiagnosed and under treated. To determine awareness, knowledge and practices of registered medical practitioners regarding FH in India. Physicians from a southern state of India (Tamil Nadu) who see the general cases were requested to complete a structured online survey questionnaire based on the outcomes on screening, diagnostic and service aspects of FH. A total of 133 physicians were surveyed, 27.9% perceived themselves to have above average familiarity with FH and 71.4% correctly described FH. 41.4% of physicians were unaware and unsure whether they had FH patients under their care. The awareness of specific aspects of FH were as follows: heritability 35.3%, prevalence 31.6%, typical lipid profile 34.6%, CVD relating to FH13.5%, genetic testing 33.1%, cascade screening 41.4%, preventive, management and referral services for FH 12.8%, 49.6% of them thought that the age for screening young people for FH should be 13 to 18 years. 84.2% selected GP's as the most effective health care provider for the early detection and care of FH as being useful. 69.2% selected interpretive commenting on lipid profile to highlight patients at risk of FH. 91.7% and 19.5% of physicians identified statins as monotherapy and statin with ezetimibe as combination therapy for FH, respectively. The study identified substantial deficit in the awareness and knowledge of FH among primary care physicians in Tamil Nadu. Extensive and continuous medical education programs are required to close the gap in coronary prevention.

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