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Disease Profile

Idiopathic intracranial hypertension

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-5 / 10 000

33,100 - 165,500

US Estimated

1-5 / 10 000

51,350 - 256,750

Europe Estimated

Age of onset

Adult

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ICD-10

G93.2

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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

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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.

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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.

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Not applicable

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Other names (AKA)

Intracranial hypertension, idiopathic; Pseudotumor cerebri; IIH

Categories

Nervous System Diseases

Summary

Idiopathic intracranial hypertension (IIH), formerly known as pseudotumor cerebri, is a condition that affects the brain. Pseudotumor cerebri literally translates to "false brain tumor." This term was used because symptoms of IIH resemble those of brain tumors depsite no tumor being present. Symptoms of IIH may include severe headache, nausea and vomiting, altered vision, and pulsating sounds within the head. A person with IIH may also have symptoms such as a stiff neck, back or arm pain, eye pain, and memory problems. If the condition remains untreated, permanent visual loss or blindness may develop.

While the exact underlying cause of IIH is not known (idiopathic), it is likely due to high fluid pressure within the skull that is due to buildup, or poor absorption, of cerebrospinal fluid (CSF). IIH most often (but not always) occurs in young, overweight, females. When symptoms of intracranial pressure have an identifiable cause such as another underlying disease or medication, the condition is instead referred to as secondary IH.

Treatment for IIH may include medications called carbonic anhydrase inhibitors to control the production of CSF. In some cases, weight loss may also be recommended. However, medications and/or weight loss are not effective in all cases. In severe cases that do not respond to medication and weight loss, surgery may be needed to relieve symptoms and/or preserve vision.[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
Increased intracranial pressure
Rise in pressure inside skull
0002516
30%-79% of people have these symptoms
Allergy
0012393
Obesity
Having too much body fat
0001513
Papilledema
0001085
5%-29% of people have these symptoms
Abnormal emotion/affect behavior
0100851
Blurred vision
0000622
Diplopia
Double vision
0000651
Nausea
0002018
Photophobia
Extreme sensitivity of the eyes to light
Light hypersensitivity

[ more ]

0000613
Scintillating scotoma
0010822
Sleep disturbance
Difficulty sleeping
Trouble sleeping

[ more ]

0002360
Visual loss
Loss of vision
Vision loss

[ more ]

0000572
Vomiting
Throwing up
0002013
1%-4% of people have these symptoms
Back pain
0003418
Depressivity
Depression
0000716
Focal sensory seizure with olfactory features
0011161
Lethargy
0001254
Migraine
Intermittent migraine headaches
Migraine headache
Migraine headaches

[ more ]

0002076
Pulsatile tinnitus
0008629
Vertigo
Dizzy spell
0002321
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Hypertension
0000822

Treatment

Management options for idiopathic intracranial hypertension (IIH) can vary from person to person and may involve regular eye exams to monitor vision changes, medications, weight loss, and in some cases, surgery.

Medications that may be used to reduce CSF build-up and relieve intracranial pressure include acetazolamide and furosemide. Weight loss through dieting or weight loss surgery may also be recommended for people with IIH who are overweight or obese, although this does not lead to improvement of symptoms in all cases. If the above management options are not successful and symptoms are severe or permanent vision loss is possible, surgery may be needed. Types of surgery that may be needed may include a procedure to remove pressure on the optic nerve (optic nerve sheath fenestration), and CSF shunting, which involves surgically inserting a tube to drain cerebrospinal fluid.[1][2]

Detailed information about management options for IIH are available on Medscape Reference's website by clicking here.

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

    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 Mayo Clinic Web site provides further information on Idiopathic intracranial hypertension.
    • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
    • The Merck Manual provides information on this condition for patients and caregivers.
    • The National Eye Institute (NEI) was established by Congress in 1968 to protect and prolong the vision of the American people. Click on the link to view information on this topic.
    • 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.
    • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

      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 Merck Manual for health care professionals provides information on Idiopathic intracranial hypertension.
      • 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.
      • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
      • 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 Idiopathic intracranial hypertension. Click on the link to view a sample search on this topic.

        Selected Full-Text Journal Articles

          References

          1. NINDS Pseudotumor Cerebri Information Page. National Institute of Neurological Disorders and Stroke (NINDS). May 24, 2017; https://www.ninds.nih.gov/Disorders/All-Disorders/Pseudotumor-Cerebri-Information-Page.
          2. Idiopathic Intracranial Hypertension. National Organization for Rare Disorders (NORD). 2015; https://rarediseases.org/rare-diseases/idiopathic-intracranial-hypertension/.
          3. Pseudotumor cerebri. MedlinePlus. February 3, 2015; https://www.nlm.nih.gov/medlineplus/ency/article/000351.htm.
          4. Wakerley B, Tan M, Ting E. Idiopathic intracranial hypertension. Cephalalgia. March, 2015; 35(3):248-261. https://www.ncbi.nlm.nih.gov/pubmed/24847166.
          5. Gans MS. Idiopathic Intracranial Hypertension. Medscape Reference. May 17, 2017; https://emedicine.medscape.com/article/1214410.

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