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Immune or inherited thrombocytopenia? A population-based cohort study on children and adolescents presenting with a
Lauri-Matti Kulmala1, Henri Aarnivala1,2, Tytti Pokka3
1Research Unit of Clinical Medicine, University of Oulu, Oulu, Finland.
Insights
Immune thrombocytopenia (ITP) is the most common cause of low platelet counts in children. Genetic disorders are rare but should be considered in persistent cases, especially with specific platelet counts or family history.
Area of Science:
- Pediatric Hematology
- Clinical Genetics
- Immunology
Background:
- Thrombocytopenia is a frequent hematologic finding in pediatric populations.
- Immune thrombocytopenia (ITP) is the leading cause, but inherited platelet disorders (IPD) and primary immunodeficiency disorders (PID) are important differentials.
- Differentiating ITP from inherited thrombocytopenia is clinically significant.
Purpose of the Study:
- To compare the clinical phenotypes of pediatric patients diagnosed with ITP, IPD/PID, and other causes of thrombocytopenia.
- To identify distinguishing features between ITP and inherited thrombocytopenia in children.
- To assess the diagnostic yield of genetic testing in suspected inherited thrombocytopenia.
Main Methods:
- Retrospective, population-based observational cohort study.
- Involved 506 Finnish children under 16 years of age with isolated thrombocytopenia from 2006 to 2020.
- Analysis of platelet counts, clinical features, and genetic testing outcomes.
Main Results:
- ITP accounted for 79.7% of cases, IPD/PID for 6.7%, and other causes for 13.6%.
- A platelet count ≤12 × 10^9/L showed 60% sensitivity and 80% specificity for ITP.
- Severe bleeding occurred in 4.0% of patients; no intracranial or fatal bleeding was reported.
- Up to 50% of suspected inherited thrombocytopenia cases remained undiagnosed genetically.
Conclusions:
- ITP is the predominant cause of pediatric thrombocytopenia.
- Platelet counts ≤12 × 10^9/L often indicate ITP.
- Genetic disorders are rare but warrant suspicion with persistent thrombocytopenia, especially with platelet counts >12 × 10^9/L, family history, or atypical features.
Background:
Thrombocytopenia is a common hematologic finding in children and adolescents. Immune thrombocytopenia (ITP) is the most common cause of this finding, but the differential diagnosis includes a growing list of genetic disorders. We aimed to report differences in phenotypes of patients with ITP, inherited platelet disorder (IPD)/primary immunodeficiency disorder (PID), and other causes, with a focus on differentiating ITP from inherited thrombocytopenia.
Procedure:
This retrospective, population-based observational cohort from 2006 to 2020 involved 506 Finnish children under 16 years of age presenting with isolated thrombocytopenia.
Results:
Of the 506 participants, 79.7% had ITP, 6.7% had IPD/PID, and 13.6% had other causes of thrombocytopenia. A platelet count of ≤12 × 109/L best distinguished between ITP and other reasons with a sensitivity of 60% and a specificity of 80%. Among patients with the lowest platelet count of less than 10 × 109/L, 95.9% had ITP, 3.3% had IPD/PID, and 0.8% had other causes. Severe bleeding events were reported in 20 patients (4.0%), but there were no cases of intracranial or fatal bleeding due to thrombocytopenia. Up to 50% of patients with a high suspicion of inherited thrombocytopenia remained without a specific diagnosis despite genetic testing.
Conclusions:
ITP remains the most common cause of thrombocytopenia. A platelet count of ≤12 × 109/L often leads to an ITP diagnosis. Genetic disorders are rare but should be suspected in patients with persisting thrombocytopenia, especially with platelet counts constantly above 12 × 109/L, a positive family history, or atypical clinical features.
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