Familial hypercholesterolemia in community-based KHDC Nepal program-baseline data

Abstract

Abstract Funding Acknowledgements Type of funding sources: Public Institution(s). Main funding source(s): HUG and Republic and Canton of Geneva – Service de solidarité internationaleBP Koirala Institute of Health Sciences Familial hypercholesterolemia (FH) is either underdiagnosed or diagnosed after primary coronary events. Although homozygous variant of FH is considered rare, heterozygous FH is estimated to occur in about 1 in 200 to 300 individuals. There is no study pertaining to prevalence of FH in Nepal which could be a factor influencing cardiovascular morbidity and mortality. We present a baseline data of FH in an ongoing in participants of community-based cardiovascular and kidney diseases preventive (KHDC Nepal) program in Mechinagar municipality in Eastern Nepal. KHDC is a program to collaborate among health post, primary health center or equivalent, and local government along with community representatives created to educate, screen, and intervene for selective NCDs. This program is in alignment with the World Health Organization’s Package of Essential Noncommunicable (WHO PEN) disease interventions for primary health care in low-resource settings. General health status and lifestyle habits, physical examination, and blood pressure were assessed. Blood tests done included fasting lipid profile, serum creatinine, FBS, and HbA1c. A mechanism was developed to follow-up screened positive persons in the primary health centers. Referrals were made to the tertiary care center as needed. We analyzed initial 7289 participants, 20 years or above, who were enrolled in KHDC program in the year 2020. We assessed for FH using Dutch Lipid Clinic Network(DLCN), Simon Broome and AHA criteria. Participants were categorized as definite, probable, possible, or no FH based on the scores of DLCN criteria; as definite and probable based on Simon Broome criteria and as clinically diagnosed FH based on AHA criteria. The median age of the patient was 54 years, the majority being females (62.7%). A total of 70(0.96%) of the participants had elevated LDL-C levels of more than 190mg/dl detected during the screening and had no secondary cause for hyperlipidemia. According to DLCN criteria, 65(0.89%) participants were grouped under possible FH, 5(0.06%) were grouped under probable FH while none of them could be delineated as definite FH. According to Simon Broome criteria, 14(0.2%) participants were grouped under probable and none of them could be delineated as definite. According to AHA criteria, 10 (0.13%) participants were categorized as clinically diagnosed FH. DNA analysis was not available in our setup. Clinically manifested atherosclerotic disease was recorded in 5 participants. None of the participants were aware of the FH. This community-based program of the adult population help create baseline data of FH in Nepal. Larger study with genetic analysis is likely to reveal true prevalence of FH in Nepal.