Familial hypercholesterolemia (FH) is a largely underdiagnosed and undertreated disease. Findings regarding the coexistence and interplay between FH and type 2 diabetes (T2D) are conflicting. Epidemiological data suggest an approximately halved prevalence of T2D in FH and an approximately doubled cardiovascular disease (CVD) risk, dependent on mutation type, age, sex, lifestyle, associated pathologies and therapy.

For conference attending physicians involved in hypercholesterolemia management, a FH survey was developed including diagnostic-screening situations, severity assessment, while for hypercholesterolemia patients with premature CVD, a web-based tool was prepared for identification of familial cases. For diagnosis, the Simon Broome, DLCN and MEDPED criteria were used.

Physicians showed difficulties in FH identification and risk stratification, overestimating the role of associated metabolic changes and underestimating identified mutations characterized by increased CVD risk at any LDL-C level. In children, neither universal nor early lipid screening in strong family history was recommended, unlike in cases with associated metabolic disturbances. In patients, 21.73% presented definite and/or probable FH diagnosis by at least two scoring systems, 3.84% manifesting also T2D. The case of a 45-year-old patient with gestational diabetes and PCOS, conflicting algorhithms-based FH diagnosis and no means for genetic testing, good cholesterol response to statins but aggravating aorta stenosis exemplifies management challenges.

In conclusion, FH identification and individual risk assessment may be assisted by targeting selected patients for diagnosis and physicians for raising awareness, but limited access to mutation analysis and novel non-diabetogenic lipid lowering therapies incumber management of FH and the reduced number of cases with coexisting T2D.