From the Guidelines
Genetic testing of bone marrow is not a reasonable test for the evaluation of Immune Thrombocytopenia (ITP) as it does not provide diagnostic value for this condition. The American Society of Hematology 2011 evidence-based practice guideline for immune thrombocytopenia suggests that bone marrow examination is unnecessary in children and adolescents with typical features of ITP, and also not necessary prior to initiation of treatment with corticosteroids or before splenectomy 1. This guideline implies that bone marrow evaluation, including genetic testing, is not a standard approach for diagnosing ITP.
Key Points to Consider
- ITP is primarily diagnosed through clinical assessment and laboratory tests such as complete blood count showing isolated thrombocytopenia, and by excluding other causes of low platelet counts.
- Bone marrow examination itself is only indicated in select cases of ITP, such as in patients over 60 years old, those with atypical features, or when considering alternative diagnoses like myelodysplastic syndrome.
- When bone marrow evaluation is performed, standard morphological examination is typically sufficient, as ITP is an autoimmune disorder characterized by peripheral platelet destruction and impaired platelet production, not a genetic bone marrow disorder.
- Genetic testing would be more appropriate for suspected hereditary thrombocytopenias or bone marrow failure syndromes.
Clinical Approach
Given the current evidence, clinicians should focus on standard diagnostic approaches including:
- History
- Physical examination
- Peripheral blood smear review
- Possibly testing for associated autoimmune conditions Rather than pursuing genetic bone marrow studies which add cost without providing diagnostic value for ITP, as suggested by the guidelines 1.
From the Research
Evaluation of ITP using Genetic Testing of Bone Marrow
- The use of genetic testing of bone marrow for the evaluation of Immune Thrombocytopenia (ITP) is not directly addressed in the provided studies 2, 3, 4, 5.
- However, a study on bone marrow failure and myelodysplastic syndromes suggests that genetic testing can be useful in distinguishing inherited from acquired bone marrow failure 6.
- This study found that broad unbiased genetic screening can identify damaging germline mutations in patients with idiopathic bone marrow failure or myelodysplastic syndrome, even in those without classical clinical stigmata or laboratory findings 6.
- While this study does not specifically focus on ITP, it highlights the potential complexity of bone marrow disorders and the importance of genetic testing in diagnosis.
- Another study discusses the role of specialized testing, including genetic testing, in the evaluation of bone marrow failure, but does not provide specific guidance on its use in ITP 3.
- Overall, the provided studies do not provide clear evidence on the use of genetic testing of bone marrow for the evaluation of ITP, but suggest that genetic testing may be useful in certain cases of bone marrow disorders 3, 6.