Endocrine Abstracts

Familial hypercholesterolemia (FH) remains underdiagnosed in general population. Screening programs in unselected individuals have shown modest results in identifying patients with FH. Incidence of FH is higher in young patients with coronary artery disease (CAD), especially when associated with high LDL-cholesterol levels. Targeted screening in this population could add value to FH-index patient identification. We have established an IT-based automated screening tool to enhance diagnostics, treatment and cascade screening of FH.

Objectives: To assess if an automated screening tool would provide additional support in recognition of potential FH-patients.

Methods: The study is based on the data collected from consecutive patients undergone coronary angiography in the Heart Hospital at Tampere University Hospital between 2007 and 2017 and fullfilling the criteria of the automated screening tool, i.e. premature CAD verified in angiography (men < 55 years and women < 60 years) and history of high total (>8 mmol/l) or LDL-cholesterol (>5 mmol/l) level. Health records were analyzed to determine if patient had diagnosis of FH prior to CAD diagnosis, if they were diagnosed for FH based on clinical criteria after CAD, if genetic testing had been conducted and if cascade screening had been initiated.

Results: The automated screening tool identified 211 patients from 28.295 angiographies that fullfilled the criteria. After excluding patients with apparent secondary hypercholesterolemia 162/211 (77%) patients were included in further assesment regarding FH. A total of 107 (66%) patients had probable/definite FH and 55 (34%) had possible FH based on the DLCN (Dutch Lipid Clinic Network) – criteria. Only one patient was a known FH-gene carrier before diagnosis of CAD. Only 20 patients from the cohort (13 probable/definite and 7 possible for FH) were analyzed using genetic testing. Five of them (25%) had pathogenic FH-variant and two of them were admitted to Department of Clinical Genetics for cascade screening. 142 (88%) of patients (94 with DLCNC score ≥6 and 48 with DLCNC score 5) had not been tested for genetic mutations of FH. None of the patients were diagnosed with FH based on clinical criteria before or after CAD.

Conclusions: FH is an underdiagnosed and undertreated condition. Automated screening tool in cardiac care could provide additional support for clinicians and reduce the inter-clinician variability in diagnostics, treatment and cascade screening of patients and family members potentially having FH. Further studies are needed to optimize the threshold values and exclusion criteria in the automated screening tool.