Ischemic stroke is a potential complication of uncontrolled inflammation in mevalonate kinase deficiency - A case report.

Autor: Blais J; Department of Medicine, Faculty of Medicine, Université de Montréal, Montreal, Canada., Bonneville-Roussy D; Neurovascular Programme, Division of Neurology, Department of Medicine, Hôpital du Sacré-Coeur de Montréal, 5400 Gouin O. Montreal Québec H4J 1C5, Canada., Elfassy HL; Department of Medicine, Faculty of Medicine, Université de Montréal, Montreal, Canada; Division of Allergy and Immunology, Department of Medicine, Hôpital du Sacré-Coeur de Montréal, Montreal, Canada., Lanthier S; Neurovascular Programme, Division of Neurology, Department of Medicine, Hôpital du Sacré-Coeur de Montréal, 5400 Gouin O. Montreal Québec H4J 1C5, Canada; Department of Neurosciences, Faculty of Medicine, Université de Montréal, Montreal, Canada. Electronic address: sylanthier@gmail.com.
Jazyk: angličtina
Zdroj: Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association [J Stroke Cerebrovasc Dis] 2022 Dec; Vol. 31 (12), pp. 106780. Date of Electronic Publication: 2022 Oct 12.
DOI: 10.1016/j.jstrokecerebrovasdis.2022.106780
Abstrakt: Objectives: Mevalonate kinase deficiency (MKD) is an autosomal recessive autoinflammatory disease characterized by recurrent systemic inflammation attacks. Despite interconnections with inflammation, thrombosis is rare or underreported in MKD. Our goal is to report evidence of uncontrolled inflammation as the cause of ischemic stroke.
Materials and Methods: Case report.
Results: A 39-year-old French-Canadian patient consulted for stroke. He reported a previous diagnosis of familial Mediterranean fever and hospitalizations nearly monthly since birth for recurrent inflammatory attacks despite colchicine prophylaxis. Attacks were triggered by infections or stress, lasted 3-7 days, and included fever up to 41°C, painful lymphadenopathies, abdominal pain, polyarthralgia and maculopapular rash. Stroke culminated his most recent inflammatory attack. Brain MRI confirmed an acute infarct, without chronic ischemic damage. Blood tests documented increased C-reactive protein, amyloid A and immunoglobulin-D. Prothrombotic and autoantibody tests, cervicocephalic CT-angiography, echocardiography, cardiac monitoring, and toxic screen were unremarkable. Infections were excluded. His only sister had similar attacks. In both cases, sequencing of 32 autoinflammatory-associated genes identified two pathogenic mevalonate kinase mutations. Their non-consanguineous parents, half-brother and four children were asymptomatic. Following treatment with anti-interleukin-1beta monoclonal antibodies, he no longer had inflammatory attacks or stroke in >4 years.
Conclusion: This MKD patient experienced an ischemic stroke during an attack, attributed to uncontrolled inflammation. Investigations excluded other stroke etiologies. Recurrent febrile attacks starting before age 1 and lasting >3 days, gastrointestinal symptoms, painful lymphadenopathies, maculopapular rash, triggers, aphthous stomatitis, non-Mediterranean ancestry, and ineffectiveness of colchicine prophylaxis are consistent with MKD. Anti-interleukin-1 therapy prevents recurrent autoinflammatory attacks.
Competing Interests: Declaration of Competing Interest None
(Copyright © 2022 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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