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Thrombocytopenia with absence of radial bone (TAP syndrome)
Last reviewed: 04.07.2025
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TAP syndrome - Thrombocytopenia, Aplasia, Radial.
What causes thrombocytopenia with absent radius?
Autosomal recessive disease.
Symptoms of Thrombocytopenia with Absence of Radius
The main symptoms are neonatal thrombocytopenia, congenital defects of the radius. Congenital defects of the kidneys and heart are common.
What tests are needed?
Who to contact?
Treatment of Thrombocytopenia with Absence of Radius
In thrombocytopenia with absence of the radius, cow's milk proteins can be considered a kind of allergen causing severe thrombocytopenia with high mortality (60%), which is a consequence of the morphological or functional inferiority of bone marrow megakaryocytes characteristic of this disease. Surgical interventions also become a stress factor causing thrombocytopenia.
Features of patient management:
- Special diet - exclusion of cow's milk to prevent severe thrombocytopenia.
- Planned surgical interventions are contraindicated for children under 5 years of age (high risk of thrombocytopenia).
- When performing surgical interventions, transfusion of fresh platelet mass is necessary (maintaining immunological compatibility!).
More information of the treatment
Forecast
Mortality in neonatal thrombocytopenia is 60%. In the absence of intracranial hemorrhage, intelligence is not affected.
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