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

Fouzia Sadiq; Saeed Shafi; Jaka Sikonja; Madeeha Khan; Quratul Ain; Mohammad Iqbal Khan; Habibur Rehman; Matej Mlinaric; Samuel S Gidding; Urh Groselj; PAKISTAN Familial Hypercholesterolemia Collaborators

doi:10.1016/j.lansea.2023.100163

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

Lancet Reg Health Southeast Asia. 2023 Feb 20:12:100163. doi: 10.1016/j.lansea.2023.100163. eCollection 2023 May.

Authors

Collaborators

PAKISTAN Familial Hypercholesterolemia Collaborators:
Jamshed Alam, Muhammad Ali, Jamal Anwer, Waheed Akhtar Awan, Shireen Qassim Bham, Nousheen Fatima, Farah Gul, Syeda Sughra Hameed, Maryam Haroon, Mujtaba Hasan, Arzu Jadoon, Shazia Jamil, Asaad Akbar Khan, Sabeen Abid Khan, Saera Suhail Kidwai, Atif Munir, Muhammad Talha Bin Nazir, Gul Zaman Khan Niazi, Sumera Nawaz Qabulio, Muhammad Asim Rana, Adeel Ur Rehman, Saba Safdar, Saeedullah Shah, Tanzeel Ur Rehman Ahmed Sheikh, Abeer Yousuf, Kaneez Zehra, Tehzeeb Zehra

Affiliations

¹ Shifa Tameer-e-Millat University, Islamabad, Pakistan.
² Department of Anatomy, Shifa Tameer-e-Millat University, Islamabad, Pakistan.
³ Department of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Bohoriceva ulica 20, Ljubljana, Slovenia.
⁴ Faculty of Medicine, University of Ljubljana, Vrazov trg 2, Ljubljana, Slovenia.
⁵ Department of Vascular Surgery, Shifa International Hospital, Islamabad, Pakistan.
⁶ Department of Cardiology, Shifa International Hospital, Islamabad, Pakistan.
⁷ Geisinger Health, Danville, PA, USA.

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.