Rare Pulmonology News

Disease Profile

Acquired amegakaryocytic thrombocytopenia

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.

Unknown

Age of onset

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ICD-10

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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)

Severe thrombocytopenia and selective, marked decrease or absence of megakaryocytes; AAT; Acquired pure megakaryocytic aplasia

Summary

Acquired amegakaryocytic thrombocytopenia is a rare blood disorder that causes severe thrombocytopenia with no other blood abnormalities. It is so named because the level of large bone marrow cells that produce platelets, called megakaryocytes, are significantly lower or absent.[1][2] Signs and symptoms of the condition include prolonged bleeding; easy bruising; rash (pinpoint red spots called petechia); bleeding in the mouth and gums; and/or frequent nosebleeds.[3][4] There are many potential causes of the condition. Although standard treatment guidelines have not been established, various immunosuppressive treatment approaches have been utilized with success in affected people.[1][2]

Symptoms

The signs and symptoms of acquired amegakaryocytic thrombocytopenia vary but may include:[3][4]

  • Prolonged bleeding, even from minor cuts
  • Easy bruising
  • Rash (pinpoint red spots called petechia)
  • Bleeding in the mouth and gums
  • Frequent nosebleeds

Cause

There are many potential causes of acquired amegakaryocytic thrombocytopenia. For example, the condition can be associated with:[1][2]

In some people, the condition is an early sign of a more severe progressive disease, such as aplastic anemia, myelodysplasia, or leukemia.[1]

Diagnosis

A diagnosis of acquired amegakaryocytic thrombocytopenia is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This may include:[3][4]

Once the diagnosis is confirmed, a healthcare provider will likely recommend other tests in an attempt to determine the underlying cause of the condition.

Treatment

Standard treatment guidelines have not been established for acquired amegakaryocytic thrombocytopenia. However, various immunosuppressive treatment approaches have been utilized in affected people. In several case reports, affected people were successfully treated with cyclosporine either alone or in combination with other immunosuppressive medications (i.e. antithymocyte globulin). Other therapies for acquired amegakaryocytic thrombocytopenia have included rituximab, danazol, azathioprine, and bone marrow transplant with variable success.[1]

To determine the best treatment for you or a family member, please speak with a healthcare provider.

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 National Heart Lung and Blood Institute (NHLBI) provides information on thrombocytopenia in general. The NHLBI was created to conduct research and distribute health information on diseases of the heart, blood vessels, lungs, and blood.

      In-Depth Information

      • 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.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Acquired amegakaryocytic thrombocytopenia. Click on the link to view a sample search on this topic.

        References

        1. Brown GE, Babiker HM, Cantu CL, Yeager AM, Krishnadasan R.. "Almost bleeding to death": the conundrum of acquired amegakaryocytic thrombocytopenia. Case Rep Hematol. 2014. 2014; Accessed 10/26/2015.
        2. Patel M, Kalra A, Surapaneni R, Schwarting R, Devereux L. Acquired amegakaryocytic thrombocytopenia in a patient with occupational chemical exposure. Am J Ther. January-February 2014; 21(1):e17-20.
        3. Thrombocytopenia. National Heart, Lung, and Blood Institute. September 2012; https://www.nhlbi.nih.gov/health/health-topics/topics/thcp.
        4. Thrombocytopenia. MedlinePlus. February 2014; https://www.nlm.nih.gov/medlineplus/ency/article/000586.htm.
        5. Bulcahndani D et al.,. Acquired pure megakaryocytic aplasia: Report of a single case treated with Mycophenolate Mofetil. American Journal of Hematology. 2007;
        6. Felderbauer P et al.,. Case Report: Acquired pure megakaryocytic aplasia: a seoarate haematological disease entity or a syndrome with multiple causes?. Eur J Haematol. 2004;

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