scholarly journals Hiding in plain sight: supporting primary care to find familial hypercholesterolaemia and save lives

Heart ◽  
2021 ◽  
pp. heartjnl-2021-319266
Author(s):  
Nadeem Qureshi ◽  
Riyaz S Patel
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ahmad Baihaqi Azraii ◽  
Anis Safura Ramli ◽  
Zaliha Ismail ◽  
Suraya Abdul-Razak ◽  
Siti Fatimah Badlishah-Sham ◽  
...  

Abstract Background Primary care physicians (PCP) play an important role in detecting Familial Hypercholesterolaemia (FH) early. However, knowledge, awareness and practice (KAP) regarding FH among Malaysian PCP are not well established, and there was no validated tool to assess their FH KAP. Thus, the aim of this study was to adapt an FH KAP questionnaire and determine its validity and reliability among Malaysian PCP. Methods This cross-sectional validation study involved Malaysian PCP with ≥ 1-year work experience in the primary care settings. In Phase 1, the original 19-item FH KAP questionnaire underwent content validation and adaptation by 7 experts. The questionnaire was then converted into an online survey instrument and was face validated by 10 PCP. In Phase 2, the adapted questionnaire was disseminated through e-mail to 1500 PCP. Data were collected on their KAP, demography, qualification and work experience. The construct validity was tested using known-groups validation method. The hypothesis was PCP holding postgraduate qualification (PCP-PG-Qual) would have better FH KAP compared with PCP without postgraduate qualification (PCP-noPG-Qual). Internal consistency reliability was calculated using Kuder Richardson formula-20 (KR-20) and test–retest reliability was tested on 26 PCP using kappa statistics. Results During content validation and adaptation, 10 items remained unchanged, 8 items were modified, 1 item was moved to demography and 7 items were added. The adapted questionnaire consisted of 25 items (11 knowledge, 5 awareness and 9 practice items). A total of 130 out of 1500 PCP (response rate: 8.7%) completed the questionnaire. The mean percentage knowledge score was found to be significantly higher in PCP-PG-Qual compared with PCP-noPG-Qual (53.5, SD ± 13.9 vs. 35.9, SD ± 11.79), t(128) = 6.90, p < 0.001. The median percentage awareness score was found to be significantly higher in PCP-PG-Qual compared with PCP-noPG-Qual (15.4, IqR ± 23.08 vs. 7.7, IqR ± 15.38), p = 0.030. The mean percentage practice score was significantly higher in PCP-PG-Qual compared with PCP-noPG-Qual (69.2, SD ± 17.62 vs. 54.4, SD ± 19.28), t(128) = 3.79, p < 0.001. KR-20 value was 0.79 (moderate reliability) and average Kappa was 0.796 (substantial agreement). Conclusion This study has proven that the 25-item adapted FH KAP questionnaire is valid and reliable. It can be used to measure and establish FH KAP among PCP in Malaysia.


2016 ◽  
Vol 252 ◽  
pp. e41 ◽  
Author(s):  
A.S. Ramli ◽  
N.A. Mohd Mokhsin ◽  
S. Abdul Razak ◽  
M. Md Yasin ◽  
Z. Ismail ◽  
...  

2014 ◽  
Vol 23 (12) ◽  
pp. 1153-1157 ◽  
Author(s):  
Damon A. Bell ◽  
Andrew B. Kirke ◽  
Rita Barbour ◽  
Lynda Southwell ◽  
Jing Pang ◽  
...  

2018 ◽  
Vol 275 ◽  
pp. e177
Author(s):  
A.B. AzraiI ◽  
A.S. Ramli ◽  
Z. Ismail ◽  
S. Abdul-razak ◽  
A. Mohd-kasim ◽  
...  

2015 ◽  
Vol 22 (3) ◽  
pp. 341-348 ◽  
Author(s):  
Peter Green ◽  
Dermot Neely ◽  
Steve E. Humphries ◽  
Tanya Saunders ◽  
Val Gray ◽  
...  

2021 ◽  
Vol 43 ◽  
pp. S8
Author(s):  
Arushan Kirubakaran ◽  
Stevo Durbaba ◽  
Mark Ashworth ◽  
Nadeem Qureshi ◽  
Mariam Molokhia

Heart ◽  
2021 ◽  
pp. heartjnl-2021-319742
Author(s):  
Nadeem Qureshi ◽  
Ralph Kwame Akyea ◽  
Brittany Dutton ◽  
Steve E Humphries ◽  
Hasidah Abdul Hamid ◽  
...  

ObjectiveFamilial hypercholesterolaemia (FH) is a common inherited disorder that remains mostly undetected in the general population. Through FH case-finding and direct access to genetic testing in primary care, this intervention study described the genetic and lipid profile of patients found at increased risk of FH and the outcomes in those with positive genetic test results.MethodsIn 14 Central England general practices, a novel case-finding tool (Familial Hypercholetserolaemia Case Ascertainment Tool, FAMCAT1) was applied to the electronic health records of 86 219 patients with cholesterol readings (44.5% of total practices’ population), identifying 3375 at increased risk of FH. Of these, a cohort of 336 consenting to completing Family History Questionnaire and detailed review of their clinical data, were offered FH genetic testing in primary care.ResultsGenetic testing was completed by 283 patients, newly identifying 16 with genetically confirmed FH and 10 with variants of unknown significance. All 26 (9%) were recommended for referral and 19 attended specialist assessment. In a further 153 (54%) patients, the test suggested polygenic hypercholesterolaemia who were managed in primary care. Total cholesterol and low-density lipoprotein-cholesterol levels were higher in those patients with FH-causing variants than those with other genetic test results (p=0.010 and p=0.002).ConclusionElectronic case-finding and genetic testing in primary care could improve identification of FH; and the better targeting of patients for specialist assessment. A significant proportion of patients identified at risk of FH are likely to have polygenic hypercholesterolaemia. There needs to be a clearer management plan for these individuals in primary care.Trial registration numberNCT03934320.


2016 ◽  
Vol 245 ◽  
pp. e245-e246
Author(s):  
R. Edwards R ◽  
R. Gingell ◽  
D. Townsend ◽  
N. Lewis ◽  
D. Datta ◽  
...  

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