Overview of Pakistan Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) is a genetic disease characterized by elevated low-density lipoprotein cholesterol (LDL-C), which leads to premature cardiovascular morbidity and mortality.This study provides details of the "Pakistan FH Registry" as a part of a global effort to harmonize the data and develop an effective management strategy for the disease.The four-year anonymized data (2018-2021) was obtained from the Shifa International Hospital, Islamabad database and regional collaborators in Pakistan.The patients were categorized based on Dutch Lipid Clinic Network criteria and entered into the registry.A total of 335 individuals were added to the registry, of which 165 were female (49.3%), and 170 (50.7%) were males.The median age at which the patients were diagnosed was 40 years (IQR= 26.5-53.0).Most patients (n=231) belonged to the possible FH category.The delayed diagnosis of FH can lead to premature cardiovascular morbidity and mortality.Dietary and lifestyle modifications are the first line of treatment for FH individuals.Earlier detection and effective nutrients and drug therapies could help reduce the global burden of FH.