The cardiovascular risk profile of patients with Primary Familial Brain Calcification

Purpose: Primary Familial Brain Calcification (PFBC) is a rare neurologic disease characterized by basal ganglia calcifications. Data on cardiovascular risks in this population are limited. This study evaluated cardiovascular risk factors, diseases, and carotid siphon calcification in patients with PFBC or secondary basal ganglia calcification. Methods: Patients aged ≥ 18 years with PFBC or secondary basal ganglia calcification were included. Data on cardiovascular risk factors, diseases, and medication use were compared with control data from a Dutch population-based cohort study. Carotid siphon calcification was assessed on unenhanced brain CT scans and compared with a trauma cohort. Results: Sixty-three patients were included (mean age 59.2 years, 51% men). Patients had significantly higher systolic and diastolic blood pressures (mean differences of 13 and 7 mmHg, respectively). Among patients ≤ 65 years, stroke (14% versus 1%), hypertension (56% versus 23%), hypercholesterolemia (33% versus 13%), and diabetes mellitus (11% versus 3%) were significantly more prevalent than in controls. Hypertension and hypercholesterolemia were inadequately treated in 58% and 11% of patients, respectively. Carotid siphon calcification was more prevalent in patients (94% versus 80%). Conclusions: Patients with PFBC have a worse cardiovascular risk profile and significant undertreatment of modifiable risks. Improved awareness and management of cardiovascular risk factors are essential for this population to improve cardiovascular health.