Key result
Pakistan registry finds familial hypercholesterolemia diagnosed late at median age 40, mostly as possible cases.
Why the study?
Familial hypercholesterolemia is a genetic disease causing premature cardiovascular morbidity and mortality, and data harmonization is needed to develop effective management strategies in Pakistan.
Observational (n=335)
Yes
The Pakistan FH Registry highlights a delayed median age of diagnosis (40 years) for familial hypercholesterolemia, emphasizing the need for earlier detection strategies.
Provides foundational FH registry data in Pakistan; leaves open need for prospective validation before informing practice.
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.
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Khan et al. (2023) conducted an observational in Familial hypercholesterolemia (n=335). Familial hypercholesterolemia was evaluated. Familial hypercholesterolemia patients in the Pakistan FH Registry (N=335) had a median diagnosis age of 40 years, with the majority (n=231) belonging to the possible FH category.
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