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Disease Profile

Idiopathic thrombocytopenic purpura

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

All ages

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ICD-10

D69.3

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)

ITP; Autoimmune thrombocytopenic purpura; Thrombocytopenic purpura autoimmune

Categories

Blood Diseases

Summary

Idiopathic thrombocytopenic purpura (ITP) is a bleeding disorder characterized by too few platelets in the blood. This is because platelets are being destroyed by the immune system. Symptoms may include bruising, nosebleed or bleeding in the mouth, bleeding into the skin, and abnormally heavy menstruation. With treatment, the chance of remission (a symptom-free period) is good. Rarely, ITP may become a chronic ailment in adults and reappear, even after remission.[1]

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
Thrombocytopenia
Low platelet count
0001873
Thromboembolism
0001907
30%-79% of people have these symptoms
Arterial thrombosis
Blood clot in artery
0004420
Petechiae
0000967
5%-29% of people have these symptoms
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising

[ more ]

0000978
Epistaxis
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding
Nosebleed

[ more ]

0000421
Gastrointestinal hemorrhage
Gastrointestinal bleeding
0002239
Gingival bleeding
Bleeding gums
0000225
1%-4% of people have these symptoms
Cerebral hemorrhage
Bleeding in brain
0001342
Percent of people who have these symptoms is not available through HPO
Abnormal bleeding
Bleeding tendency
0001892
Autosomal dominant inheritance
0000006
Platelet antibody positive
0003454

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Treatment

    FDA-Approved Treatments

    The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

    • Immune Globulin Injection (Human) 10% Caprylate/Chromatography Purified(Brand name: Gammaked) Manufactured by Kedrion Biopharma
      FDA-approved indication: The treatment of chronic inflammatory demyelinating polyneuropathy (CIDP) to improve neuromuscular disability and impairment and for maintenance therapy to prevent relapse, primary humoral immunodeficiency (PI) in patients 2 years of age and older, and idiopathic thrombocytopenic purpura (ITP) to raise platelet counts to prevent bleeding or to allow a patient with ITP to undergo surgery.
      National Library of Medicine Drug Information Portal
    • Human immunoglobulin (human)(Brand name: Gammaplex) Manufactured by Bio Products Laboratory
      FDA-approved indication: In adults for treatment of chronic immune thrombocytopenic purpura (ITP)
      National Library of Medicine Drug Information Portal
    • Immune globulin injection [human], 10% caprylate/chromatography purified(Brand name: Gamunex-C) Manufactured by Grifols
      FDA-approved indication: Treatment of chronic inflammatory demyelinating polyneuropathy (CIDP) to improve neuromuscular disability and impairment and for maintenance therapy to prevent relapse. Also for use for the treatment of primary immunodeficiency disease (PIDD) in patients 2 years of age and older and idiopathic thrombocytopenic purpura (ITP).
      National Library of Medicine Drug Information Portal
    • Romiplostim(Brand name: Nplate) Manufactured by Amgen, Inc
      FDA-approved indication: December 2018, romiplostim (Nplate) received expanded approval for the treatment of thrombocytopenia in pediatric patients 1 year of age and older with ITP for at least 6 months who have had an insufficient response to corticosteroids, immunoglobulins, or splenectomy. Previously in August 2008, it was approved for the treatment of thrombocytopenia in patients with chronic immune (idiopathic) thrombocytopenic purpura (ITP) who have had an insufficient response to corticosteroids, immunoglobulins, or splenectomy.
      National Library of Medicine Drug Information Portal
      Medline Plus Health Information
    • Immune globulin intravenous (human), 10% liquid(Brand name: Privigen) Manufactured by CSL Behring
      FDA-approved indication: September 2017, immune globulin intravenous (human), 10% liquid (Privigen) was approved for the treatment of adults with chronic inflammatory demyelinating polyneuropathy (CIDP) to improve neuromuscular disability and impairment, however it was not studied for use longer than 6 months. It was also approved for the treatment of patients age 15 years and older with chronic immune thrombocytopenic purpura (ITP) to raise platelet counts, and as replacement therapy for primary humoral immunodeficiency (PI).
      National Library of Medicine Drug Information Portal
    • Eltrombopag(Brand name: Promacta) Manufactured by GlaxoSmithKline
      FDA-approved indication: Treatment of thrombocytopenia in patients with chronic immune (idiopathic) thrombocytopenic purpura who have had an insufficient response to corticosteroids, immunoglobulins, or splenectomy.
      National Library of Medicine Drug Information Portal
      Medline Plus Health Information
    • Fostamatinib disodium hexahydrate(Brand name: Tavalisse) Manufactured by Rigel Pharmaceuticals, Inc.
      FDA-approved indication: April 2018 approved for the treatment of thrombocytopenia in adult patients with chronic immune thrombocytopenia (ITP) who have had an insufficient response to a previous treatment.
    • Rho (D) immunoglobulin intravenous (human)(Brand name: WinRho SD) Manufactured by Baxter
      FDA-approved indication: Treatment of adults and children with chronic and acute immune thrombocytopenic purpura.
      National Library of Medicine Drug Information Portal

    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

      Organizations Providing General Support

        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

        • 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 National Heart, Lung, and Blood Institute (NHLBI) has information on this topic. NHLBI is part of the National Institutes of Health and supports research, training, and education for the prevention and treatment of heart, lung, and blood diseases.
        • 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.
          • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
          • 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 thrombocytopenic purpura. Click on the link to view a sample search on this topic.

            References

            1. Gersten T. Idiopathic thrombocytopenic purpura (ITP). MedlinePlus. February 24, 2014; https://www.nlm.nih.gov/medlineplus/ency/article/000535.htm.