Interpretative comments specifically suggesting specialist referral increase the detection of familial hypercholesterolaemia

Pathology ◽  
2016 ◽  
Vol 48 (5) ◽  
pp. 463-466 ◽  
Author(s):  
Robert Bender ◽  
Glenn Edwards ◽  
Jenny McMahon ◽  
Amanda J. Hooper ◽  
Gerald F. Watts ◽  
...  
Keyword(s):  
Familial Hypercholesterolaemia ◽  
Specialist Referral ◽  
Interpretative Comments

scholarly journals Cascade screening for glaucoma in high-risk family members of African-Caribbean glaucoma patients in an urban population in London

2020 ◽  
pp. bjophthalmol-2020-317373
Author(s):  
Anindyt Nagar ◽  
Sam Myers ◽  
Diana Kozareva ◽  
Mark Simcoe ◽  
Christopher Hammond
Keyword(s):  
High Risk ◽  
Genetic Diseases ◽  
Family Doctor ◽  
Family Members ◽  
Hospital Setting ◽  
High Risk Group ◽  
Cascade Screening ◽  
Specialist Referral ◽  
High Risk Family ◽  
African Caribbean

Background/aimsCascade screening has been used successfully in relatives of patients with inherited cancers and other genetic diseases to identify presymptomatic disease. This study was designed to examine if this approach would be successful in a high-risk group: first-degree relatives (FDR) of African-Caribbean glaucoma patients resident in London.MethodsAfrican-Caribbean patients (probands) with glaucoma from an inner London hospital setting in a deprived area were asked to disseminate personalised information to their FDR over the age of 30 and to arrange a free hospital-based screening. Data collected, including optical coherence tomography imaging, were reviewed by a glaucoma specialist and if glaucoma was diagnosed or suspected, local specialist referral via family doctor was made.Results203 probands were recruited from glaucoma clinics. 248 suitable FDR were identified as potentially eligible to attend screening. 57 (23%) FDR made contact with the research team of whom 18 (7%) attended a subsequent screening visit. No patients were diagnosed with glaucoma; one participant was diagnosed as glaucoma suspect. Reasons for poor uptake included reluctance by probands to involve their family members, and retirees spending significant time abroad.ConclusionCascade screening of FDR of African-Caribbean glaucoma patients in inner city London was unsuccessful. Research confidentiality guidance prohibiting research teams directly contacting family members was a barrier. Greater community engagement, community-based screening and permission to contact FDR directly might have improved uptake.

scholarly journals Heartbeat: improved diagnosis of familial hypercholesterolaemia

Heart ◽  
2021 ◽  
Vol 107 (15) ◽  
pp. 1185-1187
Author(s):  
Catherine M Otto
Keyword(s):  
Familial Hypercholesterolaemia

scholarly journals Synopsis of an Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia: an Australian Perspective

2021 ◽  
pp. 100151
Author(s):  
Gerald F. Watts ◽  
David R. Sullivan ◽  
David L. Hare ◽  
Karam M. Kostner ◽  
Ari E. Horton ◽  
...  
Keyword(s):  
Familial Hypercholesterolaemia
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