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Symmetrical calcifications in the basal ganglia. Fahr’s disease in an asymptomatic patient: a case report

Fahr’s disease, also known as idiopathic basal ganglia calcification is a rare neurologic condition characterized by bilateral and symmetric calcium deposits in deep brain structures such as the basal ganglia, thalamus, and cerebellum, and may also involve the cerebral cortex. The primary form, referred to as primary familial brain calcification, is typically inherited in an autosomal dominant pattern and has been associated with mutations in genes such as SLC20A2, PDGFB, and PDGFRB, which are involved in phosphate and calcium homeostasis and in the integrity of the blood-brain barrier. On the other hand, secondary forms of Fahr’s disease may result from metabolic disorders, particularly hypoparathyroidism, pseudohypoparathyroidism, and chronic disturbances in calcium and phosphorus metabolism. Although it may present with motor (parkinsonism, dystonia, chorea), cognitive (progressive dementia), or psychiatric symptoms (mood disorders, psychosis), a significant number of patients remain clinically silent and are diagnosed incidentally through neuroimaging. In the reported case, an adult woman was evaluated for occasional headaches, with no clinically relevant personal or family history and no objective neurologic abnormalities. Cranial computed tomography (CT) revealed extensive calcifications in the basal ganglia and subcortical white matter. Metabolic testing was normal, and genetic analysis identified a pathogenic variant in the SLC20A2 gene, confirming the diagnosis of primary Fahr’s disease. This case highlights the importance of considering this entity in the differential diagnosis of suggestive radiologic findings, even in the absence of overt symptoms. Regular clinical follow-up, neuropsychological assessment, and genetic counseling for family members are essential cornerstones of comprehensive care, given the potential for delayed onset of clinical manifestations.

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Horizonte Medico

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Cardiovascular risk assessment using a new score in a cohort with familial hypercholesterolemia from northwestern Colombia

Objective: To validate the predictive performance of a new cardiovascular risk stratification model in patients with familial hypercholesterolemia (FH) without a history of atherosclerotic cardiovascular disease (ASCVD) in a population from northwestern Colombia. Materials and methods: A prospective, single-center cohort study was conducted. Patients aged ≥ 18 years with a clinical or genetic diagnosis of FH, defined by the Dutch Lipid Clinic Network Score (≥ 6 points), and without a history of acute myocardial infarction, angina, ischemic stroke, or revascularization procedures were included. Follow-up spanned over 10 years, from 2014 to 2024. High cardiovascular risk in this cohort was defined according to the American Heart Association (AHA) recommendations, considering patients as high risk if they had FH plus additional risk factors—such as hypertension, active smoking, low high-density lipoprotein cholesterol (HDL-C) levels, or elevated lipoprotein(a) [Lp(a)] levels—even in the absence of previous clinical events. Baseline clinical and biochemical variables collected included age, sex, blood pressure, smoking status, HDL-C, low-density lipoprotein cholesterol (LDL-C), and Lp(a). The primary outcome was the occurrence of major adverse cardiovascular events (MACEs). Results: Cox regression models identified independent predictors of ASCVD, including hypertension (HR: 2.1; 95 % CI: 1.3–3.2), low HDL-C (< 40 mg/dL in men and < 50 mg/dL in women) (HR: 1.9; 95 % CI: 1.1–2.9), and elevated Lp(a) (> 50 mg/dL) (HR: 2.5; 95 % CI: 1.6–3.9). The new model, termed the Familial Hypercholesterolemia Risk Score (FH-Risk-Score), incorporated these variables along with persistently elevated LDL-C (> 190 mg/dL). Additionally, it demonstrated superior discriminatory capacity for predicting 10-year ASCVD risk, with a concordance index (C-index) of 0.75 (95 % CI: 0.71–0.78), compared with the Montreal Familial Hypercholesterolemia Score (Montreal-FH-SCORE) (C = 0.71) and the Risk Estimator from the SAFEHEART (Spanish Familial Hypercholesterolemia Cohort) Study (SAFEHEART-RE) (C = 0.63). Survival analysis using Kaplan–Meier curves revealed statistically significant differences in the cumulative incidence of cardiovascular events among the low-, moderate-, and high-risk groups defined by the new score (p < 0.001). Conclusions: The FH-Risk-Score demonstrated superior predictive performance in this cohort of FH patients without prior cardiovascular events. Its clinical utility lies in enhancing risk stratification, guiding lipid-lowering therapy intensification, and supporting personalized preventive strategies in high-risk populations in accordance with AHA criteria.

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Horizonte Medico