From the Guidelines
Genetic testing of bone marrow is not a recommended test for the routine evaluation of immune thrombocytopenia (ITP) in adults. ITP is primarily a diagnosis of exclusion, characterized by isolated thrombocytopenia (platelet count <100,000/μL) without other identifiable causes. The standard diagnostic approach includes a thorough history, physical examination, complete blood count, peripheral blood smear examination, and basic coagulation studies. According to the American Society of Hematology 2019 guidelines for immune thrombocytopenia 1, bone marrow examination itself is only recommended in selected cases, such as in patients over 60 years old, those with atypical features, or before initiating certain treatments like thrombopoietin receptor agonists. When bone marrow examination is performed, morphological assessment rather than genetic testing is the focus, primarily to rule out other conditions like myelodysplastic syndrome or leukemia. Genetic abnormalities are not typically associated with primary ITP, which is an immune-mediated disorder where antibodies target platelets for destruction, as stated in the American Society of Hematology 2011 evidence-based practice guideline for immune thrombocytopenia 1. The pathophysiology involves autoantibodies against platelet glycoproteins and T-cell mediated platelet destruction, not genetic mutations within the bone marrow. Resources would be better directed toward appropriate first-line treatments such as corticosteroids, intravenous immunoglobulin, or anti-D immunoglobulin rather than unnecessary genetic testing.
Some key points to consider in the evaluation of ITP include:
- The incidence of ITP is 2 to 5 per 100 000 and can be an isolated primary condition or secondary to other conditions 1
- ITP is a heterogeneous disorder with variable clinical symptoms and remains a diagnosis of exclusion of other causes of thrombocytopenia 1
- The likelihood of a spontaneous remission from ITP is age-related, with 1-year remission rates of 74% in children <1 year of age, 67% in those between 1 and 6 years of age, and 62% in those 10 to 20 years of age 1
- Adults with ITP have a 1.3- to 2.2-fold higher mortality than the general population due to cardiovascular disease, infection, and bleeding 1
- ITP has a significant impact on health-related quality of life (HRQoL), particularly in the first year after diagnosis, related to restrictions on activities, anxiety due to the risk of bleeding, and the burden of treatment and monitoring 1
Given the complexity of ITP and the lack of validated predictors of response to treatments, the choice of appropriate therapy varies greatly among practitioners, and decision-making is challenging for both clinicians and patients 1. Therefore, a thorough diagnostic approach and appropriate first-line treatments should be prioritized over genetic testing of bone marrow.
From the Research
Evaluation of ITP in Adults
- The provided studies do not directly address the use of genetic testing of bone marrow in the evaluation of Immune Thrombocytopenia (ITP) in adults 2, 3, 4, 5, 6.
- The studies focus on the management and treatment of ITP, including first-line and second-line therapies, as well as emerging therapies and individualized treatment approaches 2, 3, 4, 6.
- One study discusses the first-line treatments for newly diagnosed primary ITP in children, which may not be directly applicable to adults 5.
- There is no mention of genetic testing of bone marrow as a diagnostic tool for ITP in the provided studies.
Diagnostic Approaches for ITP
- The studies suggest that ITP diagnosis and management are complex and involve various factors, including platelet count, bleeding history, and comorbidities 2, 3, 4, 6.
- While genetic factors may play a role in the pathogenesis of ITP, there is no evidence in the provided studies to support the use of genetic testing of bone marrow as a reasonable test for evaluating ITP in adults 6.