Objective: To explore the cardiovascular risk profile of patients with Primary Familial Brain Calcification (PFBC) and Fahr’s syndrome.

Background: PFBC, also known as Fahr’s disease, is a hereditary, neurodegenerative disease characterized by calcifications in the basal ganglia. If the calcifications develop secondary to another cause, for example due to hypoparathyroidism, the term Fahr’s syndrome is used. Patients often experience movement disorders, primarily atypical Parkinsonism, cognitive decline and neuropsychiatric symptoms. Whether PFBC is associated with a higher cardiovascular risk, remains to be discovered.

Method: A cross-sectional study was performed. Patients with PFBC or Fahr’s syndrome aged ≥18 years, who visited the outpatient clinic of an academic medical center in the Netherlands between March, 2021, and November, 2023, were eligible for inclusion. All patients underwent an extensive diagnostic work-up performed by a multidisciplinary team. Data on cardiovascular diseases and risk factors, medication use, and laboratory measurements were collected. Their cardiovascular risk was compared to a control group from the LifeLines Cohort Study, which included participants from the general Dutch population. Data analysis was performed using descriptive statistics.

Results: Sixty-five patients with PFBC or Fahr’s syndrome were included (mean age 59 years, 52% male). The control group comprised of 152,180 adults (mean age 45 years, 41% male). In patients ≤65 years, the prevalence of hypertension (53% vs 23%, p<.001), hypercholesterolemia (31% vs 13%, p=.001), diabetes mellitus (11% vs 3%, p=.016), and stroke (13% vs 1%, p<.001) was significantly higher compared to the general population. In patients >65 years, the prevalence of stroke was higher (11% vs 3%, p=.050). In patients of all ages, both mean systolic and diastolic blood pressures were significantly higher.

Conclusion: Patients with PFBC have a worse cardiovascular risk profile compared to the general population. It is not known yet whether this is the direct result of the underlying pathophysiology, or secondary due to less physical activity as a consequence of movement disorders. The high prevalence of stroke and not myocardial infarction suggests that it is at least in part due to Fahr pathophysiology. Increased awareness is warranted for cardiovascular risk assessment and management in these patients.

References: Nicolas G, Charbonnier C, de Lemos RR, Richard AC, Guillin O, Wallon D, et al. Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers. Am J Med Genet B Neuropsychiatr Genet. 2015;168(7):586-94.

Kimura T, Miura T, Aoki K, Saito S, Hondo H, Konno T, et al. Familial idiopathic basal ganglia calcification: Histopathologic features of an autopsied patient with an SLC20A2 mutation. Neuropathology. 2016;36(4):365-71.

van der Ende MY, Hartman MH, Hagemeijer Y, Meems LM, de Vries HS, Stolk RP, et al. The LifeLines Cohort Study: Prevalence and treatment of cardiovascular disease and risk factors. Int J Cardiol. 2017;228:495-500.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/cardiovascular-risk-profile-in-patients-with-primary-familial-brain-calcification/