Hemophilia and other coagulation disorders: neurologic aspects

Charles Nakar MD (Dr. Nakar of the Indiana Hemophilia and Thrombosis Center has no relevant financial relationships to disclose.)
Amy D Shapiro MD (Dr. Shapiro of the Indiana Hemophilia and Thrombosis Center has no relevant financial relationships to disclose.)
Amy A Pruitt MD, editor. (

Dr. Pruitt of the University of Pennsylvania School of Medicine has no relevant financial relationships to disclose.

)
Originally released January 9, 2008; last updated October 11, 2020; expires October 11, 2023

Overview

Central nervous system bleeding is one of the most common causes of morbidity and mortality in patients with hemophilia. Minor head trauma may result in significant CNS pathology in these patients. Elderly patients with hemophilia can develop and present with cerebrovascular accidents. Rapid diagnosis and medical management are mandatory to minimize morbidity and mortality. This article provides an overview of hemophilia and its management, with specific emphasis placed on the neurologic manifestations and their implications in affected patients. Other deficiencies of coagulation disorders, eg, factor XI, factor XIII, and alpha 2-antiplasmin are briefly summarized.

Key points

 

• Hemophilia is a rare inherited bleeding disorder that results in spontaneous or triggered bleeding episodes throughout life. The frequency and severity of symptoms correlates with the level of the deficient coagulation factor. Common bleeding episodes include hemarthrosis, soft tissue hematomas, intracranial hemorrhage, and bleeding in association with injury or intervention.

 

• Neurologic complications in patients with hemophilia may present as either acute or subacute events and include intracranial or spinal cord hemorrhage and compartment syndrome. Neurologic sequelae may include physical and psychoneurologic impairments/deficits.

 

• With the availability of safe and effective clotting factor concentrates, individuals with hemophilia are able to achieve a near-normal life-span.

 

• Special attention should be given to neonates due to the higher risk of intracranial hemorrhage associated with labor and delivery, and aging patients due to cardiovascular and cerebrovascular comorbidities and events.

 

• Thromboembolic events may occur after normalization of the hemostatic system as correction of the bleeding diathesis may unmask occult coexisting thrombophilic conditions, including atherosclerotic disease.

 

• Hemophilic patients with inhibitors are at increased risk for associated morbidity and mortality, including complications such as uncontrolled bleeding and intracranial hemorrhage.

 

• Emicizumab, a humanized monoclonal bispecific antibody, substitutes for the scaffold effect of activated factor VIII in the coagulation cascade; emicizumab was approved in 2017 for inhibitor patients and in 2018 for noninhibitor patients. It is the first novel, nonfactor agent used for prophylaxis in patients with hemophilia A. Initial data support improved hemostatic control.

 

• Acquired hemophilia differs from the inherited form in age at presentation and associated clinical symptoms. A high index of suspicion must be maintained in any patient with new onset of bleeding symptoms.

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