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Thrombophilic risk factors and unusual clinical features in three Italian CADASIL patients
L Pantoni1, C Sarti, F Pescini
1Department of Neurological and Psychiatric Sciences, University of Florence, Florence, Italy. pantoni@neuro.unifi.it
Insights
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) can occur later in life. This study highlights CADASIL in older patients with vascular risk factors and atypical symptoms.
Area of Science:
- Neurology
- Genetics
- Vascular Biology
Background:
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic cerebrovascular disorder.
- Typically presents with migraine in middle age, followed by strokes, cognitive decline, and mood disorders.
- Diagnosis is often suspected in younger adults with unexplained cerebrovascular events and leukoencephalopathy, usually without typical vascular risk factors.
Observation:
- This report details three Italian patients diagnosed with CADASIL who experienced cerebrovascular events after age 55.
- These patients presented with common vascular risk factors like hypertension and hyperlipidemia, alongside thrombophilic factors including hyperhomocysteinemia, elevated lipoprotein(a), and antiphospholipid antibodies.
- Two patients reported symptoms potentially indicating cortical involvement, such as dysphasia and visual field deficits.
Findings:
- CADASIL diagnosis should be considered in older individuals presenting with cerebrovascular events.
- The presence of vascular risk factors and atypical symptoms, not solely subcortical, does not exclude CADASIL.
- Thrombophilic risk factors may play a role in later-onset CADASIL presentations.
Implications:
- This expands the known clinical spectrum and age of onset for CADASIL.
- It suggests a need to reconsider diagnostic criteria for CADASIL in older populations.
- Highlights the importance of investigating thrombophilic factors in atypical cerebrovascular disease presentations.
Abstract:
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetically transmitted cerebrovascular disease. Typically, the first clinical manifestation is migraine and the full clinical spectrum of the disease with recurrent strokes of the subcortical type, cognitive, and mood disorders is seen during the fourth and fifth decades of life. Vascular risk factors are usually absent in CADASIL patients and the diagnosis of the disease is particularly suspected in young adults with cerebrovascular events of unknown cause, diffuse leukoencephalopathy on computed tomography or magnetic resonance imaging, and a history of cerebrovascular diseases or dementia in many family members. We describe three Italian CADASIL patients who presented to medical attention for cerebrovascular events occurred after the age of 55 and had, in addition to hypertension and hyperlipidemia, thrombophilic risk factors such as hyperhomocysteinemia, elevated levels of lipoprotein(a), and antiphospholipid antibodies. Symptoms possibly related to cortical involvement, such as dysphasia and visual field deficits, were reported by two of these patients. We conclude that a diagnosis of CADASIL should not be disregarded in patients with vascular risk factors and presenting with symptoms not immediately referable to subcortical damage at ages more advanced than commonly reported.
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