Diagnostic performance of various familial hypercholesterolaemia diagnostic criteria compared to Dutch lipid clinic criteria in an Asian population

Q: What are the key findings of this study?

The Simon-Broome Register criteria showed higher sensitivity (51.1%) in detecting familial hypercholesterolaemia against the DLCC compared to JFHMC (47.0%) and US MEDPED (25.3%, p < 0.001).

Q: What is the clinical evidence from this study?

Study design: Cross-Sectional. Population: Familial hypercholesterolaemia (n=755). Intervention: Simon-Broome (SB) Register criteria, US MEDPED criteria, and Japanese FH Management Criteria (JFHMC) vs. Dutch Lipid Clinic Criteria (DLCC). Primary outcome: Sensitivity for detecting positive Familial Hypercholesterolaemia (FH) against the Dutch Lipid Clinic Criteria (DLCC) (p=<0.001).

Q: What does this research mean for the field?

The Simon-Broome Register criteria demonstrates higher sensitivity (51.1%) for identifying familial hypercholesterolaemia against the Dutch Lipid Clinic Criteria in an Asian population compared to the Japanese criteria (47.0%) and US MEDPED (25.3%). Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

Q: What question did this study set out to answer?

To evaluate and compare the diagnostic performance of the Simon-Broom Register criteria, US MEDPED, and Japanese FH Management Criteria against the Dutch Lipid Clinic Criteria in an Asian cohort.

Suraya Abdul-Razak; Radzi Rahmat; Noor Alicezah Mohd Kasim; Thuhairah Hasrah Abdul Rahman; Suhaila Abd Muid; Nadzimah Mohd Nasir; Zubin Othman Ibrahim; Sazzli Shahlan Kasim; Zaliha Ismail; Rohana Abdul Ghani; Abdul Rais Sanusi; Azhari Rosman; Hapizah Mohd Nawawi

doi:10.1186/s12872-017-0694-z

October 16, 2017BMC Cardiovascular DisordersOpen Access

Diagnostic performance of various familial hypercholesterolaemia diagnostic criteria compared to Dutch lipid clinic criteria in an Asian population

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Key result

Simon-Broome criteria show ~26-point higher sensitivity for detecting FH than US MEDPED.

P<0.001
n=755

Why the study?

Several clinical diagnostic criteria for familial hypercholesterolaemia exist alongside the widely used Dutch Lipid Clinic Criteria, but data on their comparative diagnostic performance in Asian populations are scarce.

Key Points

To evaluate and compare the diagnostic performance of the Simon-Broom Register criteria, US MEDPED, and Japanese FH Management Criteria against the Dutch Lipid Clinic Criteria in an Asian cohort.
Evaluated N=755 individuals with LDL-c levels ≥ 4.0 mmol/L recruited from specialist clinics and community health screenings in Malaysia.
Assessed sensitivity, specificity, efficiency, positive predictive value (PPV), and negative predictive value (NPV) for the Simon-Broom, US MEDPED, and Japanese criteria using the Dutch Lipid Clinic Criteria as the reference standard.
Simon-Broom criteria identified significantly more positive cases than US MEDPED and Japanese criteria (212 vs. 105 vs. 195; p < 0.001) relative to the Dutch Lipid Clinic Criteria.
All three tools exhibited low sensitivity against the reference standard: Simon-Broom (51.1%), US MEDPED (25.3%), and Japanese criteria (47.0%).
Simon-Broom criteria demonstrated the best overall diagnostic profile, yielding 98.8% specificity, 28.6% efficiency, a 98.1% positive predictive value, and a 62.3% negative predictive value.

Study Design

Type

Cross-Sectional (n=755)

Multicenter

Yes

PICO

P

Population

755 Malaysian individuals (mean age ~47.4 years, 51.5% female) with LDL-c ≥ 4.0 mmol/L free of secondary hypercholesterolaemia recruited from specialist clinics and community health screenings.

E

Exposure / Comparator

Simon-Broome (SB) Register criteria, US MEDPED criteria, and Japanese FH Management Criteria (JFHMC) vs Dutch Lipid Clinic Criteria (DLCC)

O

Primary Outcome

Sensitivity for detecting positive Familial Hypercholesterolaemia (FH) against the Dutch Lipid Clinic Criteria (DLCC), p=<0.001

Main Result

Absolute Event Rate: 51.1% vs 25.3%

p-value: p=<0.001

Limitations

Genetic mutation confirmation was not performed due to financial constraints.
Difficulty in obtaining complex family history may have reduced the sensitivity of the clinical criteria.
Most subjects were recruited from tertiary and lipid specialist care where FH prevalence is higher than the general population, affecting predictive values.

Implication

Simon-Broome criteria showed highest sensitivity among tools versus DLCC in this Asian cohort; leaves open need for prospective validation before wider adoption.

Abstract

BACKGROUND: Familial hypercholesterolaemia (FH) is a genetic disorder with a high risk of developing premature coronary artery disease that should be diagnosed as early as possible. Several clinical diagnostic criteria for FH are available, with the Dutch Lipid Clinic Criteria (DLCC) being widely used. Information regarding diagnostic performances of the other criteria against the DLCC is scarce. We aimed to examine the diagnostic performance of the Simon-Broom (SB) Register criteria, the US Make Early Diagnosis to Prevent Early Deaths (US MEDPED) and the Japanese FH Management Criteria (JFHMC) compared to the DLCC. METHODS: Seven hundered fifty five individuals from specialist clinics and community health screenings with LDL-c level ≥ 4.0 mmol/L were selected and diagnosed as FH using the DLCC, the SB Register criteria, the US MEDPED and the JFHMC. The sensitivity, specificity, efficiency, positive and negative predictive values of individuals screened with the SB register criteria, US MEDPED and JFHMC were assessed against the DLCC. RESULTS: We found the SB register criteria identified more individuals with FH compared to the US MEDPED and the JFHMC (212 vs. 105 vs. 195; p < 0.001) when assessed against the DLCC. The SB Register criteria, the US MEDPED and the JFHMC had low sensitivity (51.1% vs. 25.3% vs. 47.0% respectively). The SB Register criteria showed better diagnostic performance than the other criteria with 98.8% specificity, 28.6% efficiency value, 98.1% and 62.3% for positive and negative predictive values respectively. CONCLUSION: The SB Register criteria appears to be more useful in identifying positive cases leading to genetic testing compared to the JFHMC and US MEDPED in this Asian population. However, further research looking into a suitable diagnosis criterion with high likelihood of positive genetic findings is required in the Asian population including in Malaysia.

Discussion

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Cite This Study

Abdul-Razak et al. (2017) conducted a cross-sectional in Familial hypercholesterolaemia (n=755). Simon-Broome (SB) Register criteria, US MEDPED criteria, and Japanese FH Management Criteria (JFHMC) vs. Dutch Lipid Clinic Criteria (DLCC) was evaluated on Sensitivity for detecting positive Familial Hypercholesterolaemia (FH) against the Dutch Lipid Clinic Criteria (DLCC) (p=<0.001). The Simon-Broome Register criteria showed higher sensitivity (51.1%) in detecting familial hypercholesterolaemia against the DLCC compared to JFHMC (47.0%) and US MEDPED (25.3%, p < 0.001).

synapsesocial.com/papers/6adeee82361acebafa503a93 https://doi.org/10.1186/s12872-017-0694-z

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Diagnostic performance of various familial hypercholesterolaemia diagnostic criteria compared to Dutch lipid clinic criteria in an Asian population

Key Points

Study Design

PICO

Main Result

Limitations

Implication

Abstract

Discussion

Cite This Study

Diagnostic performance of various familial hypercholesterolaemia diagnostic criteria compared to Dutch lipid clinic criteria in an Asian population

Key Points

Study Design

PICO

Main Result

Limitations

Implication

Abstract

Discussion

Cite This Study

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