Mapping of familial hypercholesterolemia and dyslipidemias basic management infrastructure in Pakistan: a cross-sectional study

Abstract

Background: Familial hypercholesterolemia (FH) is an autosomal inherited disorder characterised by elevated low-density lipoprotein cholesterol and premature cardiovascular events. Despite being declared as a public health priority, FH remains highly underdiagnosed, generally due to the lack of awareness and shortcomings in the available infrastructure, particularly in lower income countries.

Methods: To map the existing infrastructure for the management of FH, a survey was conducted among 128 physicians (cardiologists, paediatricians, endocrinologists, and internal medicine specialists) from different regions of Pakistan.

Findings: The respondents encountered a limited number of adults or children with diagnosed FH. A very small proportion of the population had access to free cholesterol and genetic testing even when indicated by a physician. In general, cascade screening of the relatives was not performed. Uniform diagnostic criteria for FH had not been established even within the same institution or province. The use of statins and ezetimibe in addition to lifestyle changes were the most common recommended treatment option for FH patients. The respondents considered lack of financial resources as a major barrier for the management of FH and stressed on taking relevant measures for a uniform FH screening programs around the country.

Interpretation: National FH screening programmes are not in place worldwide hence FH is commonly undiagnosed, and many individuals are at a high risk for cardiovascular diseases. Timely screening of population for FH requires knowledge about FH among the clinicians and the availability of fundamental infrastructure coupled with sufficient financial resources.

Funding: The authors confirm independence from the sponsor. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results. FS received funding from Higher Education Commission, Pakistan (Grant 20-15760) and UG received grants from Slovenian Research Agency (J3-2536, P3-0343).

Keywords: Cardiovascular disease; FH screening; Familial hypercholesterolemia; Mapping survey; Opportunistic testing; Statins.

Fig. 1

Pakistani provinces/administrative units and distribution of respondents throughout the country. Name of provinces and regions are capitalized, and the name of cities are non-capitalised.

Fig. 2

Measures taken at a patient with a premature cardiovascular disease. a) actively considering familial hypercholesterolemia [FH]; b) Cholesterol measurement; c) Evaluation of FH with clinical criteria; d) Genetic testing for FH; e) Cascade testing of relatives; f) Prescription of lipid lowering therapy.

Fig. 3

Treatment of adult and paediatric individuals with familial hypercholesterolemia.

Fig. 4

Main barriers to performing a systematic familial hypercholesterolemia screening program. a) lack of professional consensus on national level; b) lack of professional consensus on international level; c) lack of clear guidance/recommendations; d) lack of financial resources; e) lack of institutional support; f) lack of support by government; g) too difficult to be implemented in practice; h) not a healthcare priority in our country; i) possibility of genetic or other discrimination of patients.

Fig. 5

Relevancy of measures required for the implementation of a systematic familial hypercholesterolemia screening program. a) clear professional consensus on national level; b) clear professional consensus on international level; c) clear professional guidance/recommendations; d) resources and support by institution; e) resources and support by government; f) assistance with practical implementation; g) measures against genetic or other discrimination of patients; h) support from patient advocacy organizations.