Primary angiitis of the central nervous system

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Disease Profile

Unknown

US Estimated

Europe Estimated

Age of onset

All ages

ICD-10

I67.7

Inheritance

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

Not applicable

Other names (AKA)

PACNS; Primary central nervous system vasculitis; Primary CNS vasculitis;

Summary

Primary angiitis of the central nervous system is a rare form of vasculitis (inflammation of blood vessels) affecting the blood vessels that nourish the brain, spinal cord and peripheral nerves. This condition can lead to narrowing and blockage of the blood vessels of the central nervous system which can eventually cause aneurysms, ischemia and/or hemmorrhage. The cause of this condition is unknown. Signs and symptoms of this condition may begin suddenly or develop over time. Some of the symptoms may incude headaches that do not go away, fever, rapid weight loss, confusion or forgetfulness, and general malaise. Treatment for this condition involves a course of immunosuppresive steroids.^[1]^[2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Cerebral vasculitis		0005318
30%-79% of people have these symptoms
Abnormal CSF protein level		0025456
Aphasia	Difficulty finding words Losing words Loss of words [ more ]	0002381
CSF pleocytosis		0012229
Headache	Headaches	0002315
Hemiparesis	Weakness of one side of body	0001269
Multifocal cerebral white matter abnormalities		0007052
Nausea and vomiting		0002017
Paralysis	Inability to move	0003470
Recurrent subcortical infarcts		0007236
Transient ischemic attack	Mini stroke	0002326
5%-29% of people have these symptoms
Abnormal visual field test		0030588
Ataxia		0001251
Blurred vision		0000622
Diplopia	Double vision	0000651
Dysarthria	Difficulty articulating speech	0001260
Fever		0001945
Intracranial hemorrhage	Bleeding within the skull	0002170
Paraparesis	Partial paralysis of legs	0002385
Reduced visual acuity	Decreased clarity of vision	0007663
Seizure		0001250
Tetraparesis		0002273
Transient global amnesia		0010534
1%-4% of people have these symptoms
Amaurosis fugax		0100576
Constitutional symptom		0025142
Parkinsonism		0001300
Pseudopapilledema		0000538
Vertigo	Dizzy spell	0002321

Do you have updated information on this disease? We want to hear from you.

Treatment

The current treatment recommendation is to start with oral prednisone at a dose of 1 mg/kg per day and cyclophosphamide at a dose of 2 mg/kg per day. Most centers use prednisone and cyclophosphamide for 4-6 months to induce clinical remission, and then taper prednisone off.^[1] Patients generally stay on cyclophosphamide therapy between three and six months, depending on when remission occurs and if there are any potential side effects from cyclophosphamide. Once cyclophosphamide is discontinued, it should be replaced with a less toxic medication for an additional six to twelve months of maintenance therapy. Some doctors switch from cyclophosphamide to azathioprine (2 mg/kg) or mycophenolate mofetil. Methotrexate can also be used, but may be limited by its difficulty to cross the blood brain barrier. There is limited data on how long the maintenance therapy lasts so the decision on the duration of the therapy should be individualized, based upon how the patient responds to therapy. ^[3]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Vasculitis Foundation
P.O. Box 28660
Kansas City, MO 64188
Toll-free: 1-800-277-9474
Telephone: +1-816-436-8211
Fax: +1-816-656-3838
E-mail: https://www.vasculitisfoundation.org/contact-us-2/
Website: https://www.vasculitisfoundation.org/

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Primary angiitis of the central nervous system. Click on the link to view a sample search on this topic.

References

Noufal M. Primary Angiitis of the CNS. Medscape Reference. April 2012; https://emedicine.medscape.com/article/1484146-treatment. Accessed 10/29/2012.
NINDS. Vasculitis Syndromes of the Central and Peripheral Nervous Systems Fact Sheet. February 7, 2012; https://www.ninds.nih.gov/disorders/vasculitis/detail_vasculitis.htm. Accessed 10/31/2012.
Hajj-Ali, R., Calabrese L. Primary angiitis of the centeral nervous system. UpToDate. April 18, 2012; https://www.uptodate.com/contents/primary-angiitis-of-the-central-nervous-system#H30. Accessed 10/29/2012.

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