. 2017 Oct 1;24(10):1075–1084. doi: 10.5551/jat.37507

Table 1. Details of existing FH Registries: Type: DNA positive indicates a molecular genetic diagnosis of FH. Clinical indicates a clinical diagnosis of FH by DLCNS or other criteria. Hybrid indicates a mixture of molecular genetic and clinical diagnosis for inclusion in the registry.

Country/Region	Registry	Type	Time-frame	Number (year confirmed)	System	Further details
UK	The Simon Broome Register of FH^23–25)	Hybrid	1980-	3,382 heFH patients from 21 lipid clinics	SPSS	Developed the Simon Broome Criteria to determine definite or probable FH status. Reported significant decreases in excess coronary heart disease mortality for patients who received early diagnosis and treatment.
USA	Make Early Diagnosis, Prevent Early Deaths (MEDPED)³³⁾	Hybrid	1989–2004	∼8,000 definite or probable FH patients³¹⁾		MEDPED criteria created and validated to estimate the probability of FH.
Norway	Unit of Cardiac and Cardiovascular Genetics Registry^28–30)	DNA positive	1992-	7,091 (2016)	Filemaker from Apple	Registry data can be linked to several other National health registries to assess mortality, cardiovascular disease and pregnancy outcomes in FH patients.
The Netherlands	Dutch Lipid Clinic Network²⁷⁾	Hybrid	1994-	> 30,000³¹⁾	PASS Clinical ® Vascular	Developed and validated a set of diagnostic criteria for FH.
Czech Republic	Czech MED-PED Registry	Hybrid	1998-	6919 (2016)	Online database (PAGEWISER)	MedPed project initiative.
Spain	Spanish FH Longitudinal Cohort Study (SAFEHEART)^{35, 36)}	Hybrid	2004-	4,615 (2016)	Dinahosting (network server)	Approximately 3,000 individuals have a positive genetic test. The registry is run by the Fundacion HF. Website: https://www.colesterolfamiliar.org/
Wales and England	Pass Database^{54, 55)}	Hybrid	2010-	2587 (2016)	PASS Clinical ® Vascular
UK	The National Paediatric FH Register²⁶⁾	Clinical	2012-	380 (2016)	Electronic data capture	Established to collect baseline and long-term follow-up data on all children (0–18 years) with FH in the UK. Approximately 60% have a DNA family mutation recorded.
USA	CASCADE FH^{31, 32)}	Hybrid	2013-	3,030 (2016)	Bespoke built in partnership with the Duke Clinical Research Institute.	A national, multicentre initiative that longitudinally tracks FH therapy, family screening, clinical outcomes and patient-reported outcomes.
Canada	FH Canada Registry³⁴⁾	Hybrid	2014-	738 (2016); 2900 expected by the end of 2016	iCAPTURE (bespoke built) from the James Hogg Research Centre, UBC	Started in 2014 from the existing British Columbia FH Registry⁶⁾. Established to diagnose, educate and treat individuals with heFHheFH. Website: www.fhcanada.net
France	French Cohort of patients with FH³⁸⁾	Clinical	2015-	∼3,263 (2016)	Integralis	Primary objective is to create a cohort of French patients with FH to evaluate screening and clinical management.
Taiwan	Taiwan Familial Hypercholesterolemia Registry Study	Hybrid	2015-	500 (2016)	Clinical Study Information System (CIMS)	Organised by the Taiwan Society of Lipid & Atherosclerosis.
International	European Atherosclerosis Society (EAS) FH Studies Collaboration (FHSC)^{39, 56)}	Hybrid	2015-	Data to be received from 10/2016.	Bespoke system	A global initiative from the EAS that, through a consortium of major FH registries worldwide, aims to generate large-scale robust data. Investigators from over 5 countries have formally committed to contribute their data to date.
International	Homozygous autosomal dominant hypercholsterolemia (HoADH) International Clinical Collaboration (HICC)	Hybrid	2015-		REDCap	The HICC will evaluate the true prevalence and phenotypic and genetic characterisation of HoADH.