Dural Venous Sinus Thrombosis and Papilledema Related to JAK2 Mutation: A Case Series.
Can J Neurol Sci
; 50(2): 194-200, 2023 03.
Article
em En
| MEDLINE
| ID: mdl-34906267
ABSTRACT
BACKGROUND:
Dural venous sinus thrombosis (DVST) is an important cause of papilledema. Patients diagnosed with DVST should undergo work-up for underlying hypercoagulable state, including genetic causes. One important prothrombotic mutation is in the JAK2 gene, which is a driver of myeloproliferative neoplasms including polycythemia vera (PV). We aimed to determine the prevalence of JAK2 mutation in patients in presenting to neuro-ophthalmology clinic with DVST and papilledema.METHODS:
Retrospective case series of patients seen in a tertiary neuro-ophthalmology practice who presented with papilledema due to DVST and were investigated for presence of JAK2 mutation.RESULTS:
Four out of 15 patients with DVST (26%) were found to have JAK2 V617F mutation which led to subsequent diagnosis of PV in 2. One additional patient had a known diagnosis of essential thrombocytosis. We describe the clinical presentation of these four patients with papilledema and JAK2 mutation.CONCLUSIONS:
A significant proportion of patients with papilledema secondary to DVST will harbor mutations in the JAK2 gene. Clinicians should be aware of this mutation as early testing will facilitate timely diagnosis and treatment of myeloproliferative disease to improve prognosis and reduce risk of recurrent thrombotic events.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Policitemia Vera
/
Trombose dos Seios Intracranianos
/
Papiledema
/
Transtornos Mieloproliferativos
Tipo de estudo:
Risk_factors_studies
Limite:
Humans
Idioma:
En
Revista:
Can J Neurol Sci
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Canadá