The cardiovascular risk profile of patients with Primary Familial Brain Calcification
Abstract 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 patien...
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| Language: | English |
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Springer
2025-07-01
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| Series: | Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1007/s44162-025-00097-8 |
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| author | Birgitta M. G. Snijders Pim A. de Jong Mike J. L. Peters Bouke D. W. T. Lith Eva H. Brilstra Ynte M. Ruigrok Vera P. M. Schepers Evelien van Valen Marielle H. Emmelot-Vonk Huiberdina L. Koek |
| author_facet | Birgitta M. G. Snijders Pim A. de Jong Mike J. L. Peters Bouke D. W. T. Lith Eva H. Brilstra Ynte M. Ruigrok Vera P. M. Schepers Evelien van Valen Marielle H. Emmelot-Vonk Huiberdina L. Koek |
| author_sort | Birgitta M. G. Snijders |
| collection | DOAJ |
| description | Abstract 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. |
| format | Article |
| id | doaj-art-2fea118d5c8b47c0a4509d66600947bb |
| institution | DOAJ |
| issn | 2731-085X |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Springer |
| record_format | Article |
| series | Journal of Rare Diseases |
| spelling | doaj-art-2fea118d5c8b47c0a4509d66600947bb2025-08-20T03:06:36ZengSpringerJournal of Rare Diseases2731-085X2025-07-01411910.1007/s44162-025-00097-8The cardiovascular risk profile of patients with Primary Familial Brain CalcificationBirgitta M. G. Snijders0Pim A. de Jong1Mike J. L. Peters2Bouke D. W. T. Lith3Eva H. Brilstra4Ynte M. Ruigrok5Vera P. M. Schepers6Evelien van Valen7Marielle H. Emmelot-Vonk8Huiberdina L. Koek9Department of Geriatrics, University Medical Center Utrecht, Utrecht UniversityDepartment of Radiology, University Medical Center Utrecht, Utrecht UniversityDepartment of Geriatrics, University Medical Center Utrecht, Utrecht UniversityDepartment of Geriatrics, University Medical Center Utrecht, Utrecht UniversityDepartment of Genetics, University Medical Center Utrecht, Utrecht UniversityDepartment of Neurology, University Medical Center Utrecht, Utrecht UniversityDepartment of Rehabilitation, Physical Therapy, Science & Sports, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht UniversityDepartment of Geriatrics, University Medical Center Utrecht, Utrecht UniversityDepartment of Geriatrics, University Medical Center Utrecht, Utrecht UniversityDepartment of Geriatrics, University Medical Center Utrecht, Utrecht UniversityAbstract 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.https://doi.org/10.1007/s44162-025-00097-8Primary Familial Brain CalcificationBasal ganglia calcificationCardiovascular riskCarotid siphon calcification |
| spellingShingle | Birgitta M. G. Snijders Pim A. de Jong Mike J. L. Peters Bouke D. W. T. Lith Eva H. Brilstra Ynte M. Ruigrok Vera P. M. Schepers Evelien van Valen Marielle H. Emmelot-Vonk Huiberdina L. Koek The cardiovascular risk profile of patients with Primary Familial Brain Calcification Journal of Rare Diseases Primary Familial Brain Calcification Basal ganglia calcification Cardiovascular risk Carotid siphon calcification |
| title | The cardiovascular risk profile of patients with Primary Familial Brain Calcification |
| title_full | The cardiovascular risk profile of patients with Primary Familial Brain Calcification |
| title_fullStr | The cardiovascular risk profile of patients with Primary Familial Brain Calcification |
| title_full_unstemmed | The cardiovascular risk profile of patients with Primary Familial Brain Calcification |
| title_short | The cardiovascular risk profile of patients with Primary Familial Brain Calcification |
| title_sort | cardiovascular risk profile of patients with primary familial brain calcification |
| topic | Primary Familial Brain Calcification Basal ganglia calcification Cardiovascular risk Carotid siphon calcification |
| url | https://doi.org/10.1007/s44162-025-00097-8 |
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