Rare Ophthalmology News

Disease Profile

Hemangioma thrombocytopenia syndrome

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

Infancy

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ICD-10

D18.0

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)

Kasabach Merritt syndrome; Thrombocytopenia-hemangioma syndrome; Kasabach Merritt phenomenon;

Categories

Blood Diseases; Congenital and Genetic Diseases; Rare Cancers

Summary

Hemangioma thrombocytopenia syndrome is characterized by profound thrombocytopenia in association with two rare vascular tumors: kaposiform hemangioendotheliomas and tufted angiomas. The profound thrombocytopenia can cause life threatening bleeding and progress to a disseminated coagulopathy in patients with these tumors.[1][2] The condition typically occurs in early infancy or childhood, although prenatal cases (diagnosed with the aid of ultrasonography), newborn presentations, and rare adult cases have been reported.[3]

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
Hypofibrinogenemia
0011900
Thrombocytopenia
Low platelet count
0001873
30%-79% of people have these symptoms
Capillary hemangioma
Strawberry birthmark
0005306
Petechiae
0000967
Tufted angioma
0012329
5%-29% of people have these symptoms
Abnormal lymphatic vessel morphology
0100766
Chronic disseminated intravascular coagulation
0005520
Hepatic hemangioma
0031207
Hyperhidrosis
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased

[ more ]

0000975
Leukopenia
Decreased blood leukocyte number
Low white blood cell count

[ more ]

0001882
Microangiopathic hemolytic anemia
0001937
Neutropenia
Low blood neutrophil count
Low neutrophil count

[ more ]

0001875
Prolonged prothrombin time
0008151
1%-4% of people have these symptoms
Abdominal distention
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating

[ more ]

0003270
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Hypertrichosis
0000998
Hypopnea
0040213
Neoplasm of the skin
Skin tumors
Tumor of the skin

[ more ]

0008069
Respiratory distress
Breathing difficulties
Difficulty breathing

[ more ]

0002098
Reticulocytosis
Increased immature red blood cells
Increased number of immature red blood cells

[ more ]

0001923
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Hemangioma
Strawberry mark
0001028
Hyperkalemia
Elevated serum potassium levels
0002153
Ventricular arrhythmia
0004308

Treatment

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

    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 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

      • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
      • 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 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 Hemangioma thrombocytopenia syndrome. Click on the link to view a sample search on this topic.

          References

          1. Adams D. Kasabach-Merritt phenomenon. National Organization for Rare Disorders (NORD). 2008; https://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Kasabach-Merritt%20phenomenon. Accessed 10/19/2010.
          2. Vazquez MP. Kasabach-Merritt syndrome. Orphanet. 2006; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2330. Accessed 10/19/2010.
          3. Krafchik BR, Hendricks LK, Faguet GB, Kuthiala S. Kasabach-Merritt Syndrome. eMedicine. 2010; https://emedicine.medscape.com/article/202455-overview. Accessed 10/19/2010.