Aetiologia

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Aetiological diagnosis of ischaemic stroke in young adults
José M Ferro, Ayrton R Massaro, Jean-Louis Mas
Despite improvements in diagnosis and treatment, ischaemic stroke in young adults remains a catastrophic event from the patients’ perspective. Stroke can cause death, disability, and hamper quality of life. For the neurologist treating a young adult with suspected ischaemic stroke, thediagnostic challenge is to identify its cause.
Contemporary neuroimaging of the brain and its vessels, and a comprehensive cardiac assessment, will enable
identifi cation of the most frequent causes of stroke in this age group: cardioembolism and arterial dissection.
Specifi c diagnostic tests for the many other rare causes of ischaemic stroke in young adults (angiography, CSF
examination,screening for vasculitis and thrombophilia, genetic testing, and ophthalmological examination)
should be guided by suspected clinical fi ndings or by the high prevalence of diseases associated with stroke in
some countries.
Introduction
The incidence of stroke rises exponentially with age and is therefore low in young adults.
Nevertheless, ischaemic stroke in young adults is a common causeof admission to stroke units and referral to neurology departments or tertiary hospitals.
Traditional risk factors for stroke such as hypertension and diabetes are not very frequent in young adults; 2,3 however, some other permanent or transient risk factors such as smoking, use of oral contraceptives, migraine, trauma, use of illicit drugs, and pregnancy or puerperium have a more important rolein this age group than in older adults. The main clinical challenge in management of a young adult with acute stroke is the identifi cation of its cause. Although large extracranial and intracranial atheroma, small-vessel disease, and atrial fi brillation4,5 have a major role in cases of stroke in older adults, these disorders are much less frequent in young adults. Our ability to establish a definite cause for stroke in young people has improved in the past decades because of advances in the non-invasive imaging of the brain vessels, heart cavities, and valves, and cardiac electrophysiology and genetic diagnostic instruments. In this Review, we focus on the aetiological diagnosis of stroke in young adults with particular emphasis on the best approaches to confi rm or exclude the mostcommon causes of stroke in these patients, and we describe the clinical features and diagnostic considerations of several associated disorders and diseases, with the aim of facilitating practising neurologists, emergency physicians, and internists in reaching an aetiological diagnosis of stroke in young adults. We also describe the most relevant aspects and advances in the descriptive and analytical(risk factors and associated disorders) epidemiology of ischaemic stroke in young adults. Young adults are variously defi ned in published studies as aged less than 40, 45, 50, or 55 years; here, to be inclusive, we use the upper age limit of 55 years. Apart from a consensus proposal on the aetiological investigation of cerebral infarction in young adults from the SocietéFrançaise Neurovasculaire,no specifi c guidelines exist for the management of stroke specifi cally in this age group.
Incidence, prevalence, and demographicsIn a hospital-based study in Finland,the yearly incidence of stroke increased from 2·4 per 100 000 for people aged 20–24 years, to 4·5 per 100 000 for people aged 30–34 years, and to 32·9 per 100 000 for people aged 45–49 years. Stroke is slightly more frequent inwomen aged 20–30 years and in men older than 35 years. The proportion of strokes of undetermined or rare causes is much higher for young adults than for older patients.
In young adults the aetiological subgroups also vary with age: the proportion of strokes of undetermined cause decreases with age, whereas the proportion of strokes caused by large artery atherosclerosis and small-vessel disease...
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