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

Sadiq, Fouzia; Shafi, Saeed; Šikonja, Jaka; Khan, Madeeha; Ain, Quratul; Khan, Mohammad Iqbal; Rehman, Habib; Mlinarič, Matej; Gidding, Samuel S.; Grošelj, Urh; Alam, Jamshed; Ali, Muhammad; Anwer, Jamal; Awan, Waheed Akhtar; Bham, Shireen Qassim; Fatima, Nousheen; Gul, Farzana; Hameed, Syeda Sughra; Haroon, Maryam; Mujtaba, Hasan; Jadoon, Arzu; Jamil, Shazia; Khan, Asaad; Khan, Sabeen Abid; Kidwai, Saera Suhail; Munir, Atif; Nazir, Muhammad Talha Bin; Niazi, Gul Zaman Khan; Qabulio, Sumera Nawaz; Rana, Muhammad Asim; Rehman, Adeel; Safdar, Saba; Shah, Saeedullah; Sheikh, Tanzeel Ur Rehman Ahmed; Yousuf, Abeer; Zehra, Kaneez; Zehra, Tehzeeb

doi:10.1016/j.lansea.2023.100163

Cited by 5 publications

(5 citation statements)

References 22 publications

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“…These levels were slightly higher than those observed in the Southeast Asian population (Figure 4) 26 . Elevated Lp(a) levels have been identified as a risk factor for coronary heart disease in the Pakistani population; however, Lp(a) testing is generally not performed routinely 23,27 . This is also evident from the present study where only 1060 tests were booked over a span of five years in one of the largest diagnostic laboratories with centres all over Pakistan.…”

Section: Discussionmentioning

confidence: 99%

Frequency of lipoprotein(a) testing and its levels in Pakistani population

Batool,

Khan,

Ain

et al. 2024

Preprint

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Background: Lipoprotein(a) [Lp(a)] is a highly atherogenic particle identified as an independent risk factor for the development of atherosclerotic cardiovascular disease (ASCVD). This study aimed to investigate the frequency of Lp(a) testing and incidence of elevated Lp(a) in the Pakistani population. Methods: For this observational study, Lp(a) and lipid profile data from five years (June 2015 to October 2020) were acquired from the electronic patient records of a diagnostic laboratory (Chughtai Laboratories, Lahore). The association of age, total cholesterol (TC), high-density lipoprotein (HDL), low-density lipoprotein cholesterol (LDL-C), non-HDL, and triglyceride (TG) levels with two thresholds for Lp(a), that is, <30 mg/dL and ≥30 mg/dL, was calculated using the Kruskal Wallis test, while the association between Lp(a) levels and lipid variables was calculated using Spearman correlation. Results: For five years, 1060 tests were conducted, averaging 212 tests per year. Of these tests, 37.2% showed Lp(a) levels above 30 mg/dL. There were no significant differences observed in the results between males and females. However, younger individuals displayed significantly higher Lp(a) levels. Additionally, there was only a weak correlation between Lp(a) levels and other lipid variables. Conclusion: Despite being recognized as a risk factor for ASCVD in the Pakistani population, only a small proportion of the large population had their Lp(a) tested. Moreover, a significant proportion of the population lies above the threshold.

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Section: Discussionmentioning

confidence: 99%

Frequency of lipoprotein(a) testing and its levels in Pakistani population

Batool,

Khan,

Ain

et al. 2024

Preprint

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“…Familiar hypercholesterolemia is 18-fold more frequent in individuals with ASCVD [25]. Individuals affected by familiar hypercholesterolemia have a 10-fold higher risk for coronary artery disease (CAD) compared with healthy peers [28], but globally just less than 10% of the familiar hypercholesterolemia population is diagnosed and treated [29]. The EAS Familial Hypercholesterolemia Studies Collaboration (FHSC) reported a prevalence of CAD of 17.4% in 42 167 adults with familiar hypercholesterolemia [2.1% for stroke and 5.2% for peripheral artery disease (PAD)], increasing with concentrations of untreated LDL-C [30].…”

Section: Key Pointsmentioning

confidence: 99%

Clinical impact of genetic testing for lipid disorders

Muzurović,

Borozan,

Rizzo

2024

Current Opinion in Cardiology

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Purpose of review Genetic testing is increasingly becoming a common consideration in the clinical approach of dyslipidemia patients. Advances in research in last decade and increased recognition of genetics in biological pathways modulating blood lipid levels created a gap between theoretical knowledge and its applicability in clinical practice. Therefore, it is very important to define the clinical justification of genetic testing in dyslipidemia patients. Recent findings Clinical indications for genetic testing for most dyslipidemias are not precisely defined and there are no clearly established guideline recommendations. In patients with severe low-density lipoprotein cholesterol (LDL-C) levels, the genetic analysis can be used to guide diagnostic and therapeutic approach, while in severe hypertriglyceridemia (HTG), clinicians can rely on triglyceride level rather than a genotype along the treatment pathway. Genetic testing increases diagnostic accuracy and risk stratification, access and adherence to specialty therapies, and cost-effectiveness of cascade testing. A shared decision-making model between the provider and the patient is essential as patient values, preferences and clinical characteristics play a very strong role. Summary Genetic testing for lipid disorders is currently underutilized in clinical practice. However, it should be selectively used, according to the type of dyslipidemia and when the benefits overcome costs.

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“…A survey conducted in Pakistan among clinicians showed that a very small number of FH patients had been diagnosed. Moreover, lack of genetic testing, uniform diagnostic criteria and non-availability of resources are the major limitations for FH screening in the country (Sadiq et al, 2023). Registries are effective tools to enhance knowledge dissemination and improve healthcare planning at the local level to tackle the global burden of FH (Hammond et al, 2013).…”

Section: Introductionmentioning

confidence: 99%

Overview of Pakistan Familial Hypercholesterolemia

Khan,

Sadiq

2023

ANST

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

Cited by 5 publications

References 22 publications

Frequency of lipoprotein(a) testing and its levels in Pakistani population

Frequency of lipoprotein(a) testing and its levels in Pakistani population

Clinical impact of genetic testing for lipid disorders

Overview of Pakistan Familial Hypercholesterolemia

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