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Disease Profile

Heparin-induced 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

All ages

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ICD-10

D69.5

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)

HIT; Heparin-induced thrombocytopenia

Categories

Blood Diseases

Summary

Heparin-induced thrombocytopenia (HIT) is an adverse reaction to the drug heparin resulting in an abnormally low amount of platelets (thrombocytopenia). HIT is usually an immune response which typically occurs 4-10 days after exposure to heparin; it can lead to serious complications and be life-threatening. This condition occurs in up to 5% of those who are exposed to heparin. Characteristic signs of HIT are a drop in platelet count of greater than 50% and/or the formation of new blood clots during heparin therapy. The first step of treatment is to discontinue and avoid all heparin products immediately. Often, affected individuals require another medicine to prevent blood clotting (anticoagulants). [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
Autoimmune thrombocytopenia
0001973
Hypercoagulability
0100724
Thromboembolism
0001907
30%-79% of people have these symptoms
Arterial thrombosis
Blood clot in artery
0004420
Deep venous thrombosis
Blood clot in a deep vein
0002625
Increased serum serotonin
0003144
5%-29% of people have these symptoms
Cerebral ischemia
Disruption of blood oxygen supply to brain
0002637
Disseminated intravascular coagulation
0005521
Increased inflammatory response
0012649
Mesenteric venous thrombosis
0030248
Myocardial infarction
Heart attack
0001658
Pulmonary embolism
Blood clot in artery of lung
0002204
Stroke
0001297
1%-4% of people have these symptoms
Abnormal onset of bleeding
0040231

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.

  • Lepirudin(Brand name: Refluden) Manufactured by Hoechst Marion Roussel
    FDA-approved indication: For anticoagulation in patients with heparin-induced thrombocytopenia and associated thromboembolic disease in order to prevent further thromboembolic complications.
    National Library of Medicine Drug Information Portal

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) 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.

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 Heparin-induced thrombocytopenia. Click on the link to view a sample search on this topic.

References

  1. Greinacher A & Lubenow N. Heparin-induced thrombocytopenia. Orphanet. 2003; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3325. Accessed 5/3/2012.
  2. Heparin-induced thrombocytopenia. Medscape Reference. 2011; https://emedicine.medscape.com/article/1357846-overview. Accessed 5/3/2012.