CONTENTS:
- Misdiagnosis of Primary Immune Thrombocytopenia (ITP) in the Community Setting and Its Association with Inherited Platelet Disorders: Reporting New Variants of Inherited Platelet Disorders
- Corticosteroids: Read about this treatment approach, mechanism of action, benefits, and side effects.
Misdiagnosis of Primary Immune Thrombocytopenia (ITP) in the Community Setting and Its Association with Inherited Platelet Disorders: Reporting New Variants of Inherited Platelet Disorders
As ITP remains a diagnosis of exclusion and testing for all possible causes of thrombocytopenia (low platelet count) isn’t realistic in clinical practice, some patients are misdiagnosed as having ITP when in fact their low platelet count is due to an entirely separate underlying condition. For example, inherited platelet disorders (IPD) can mimic ITP. In a study published by a group of researchers (in 2023) which included PDSA’s Medical Advisor Howard Liebman, MD, a single clinic was used to identify the number of patients who were ultimately diagnosed with an inherited platelet disorder (IPD) but who were initially misdiagnosed as having ITP. The goal of this study is to increase the awareness of IPD in the medical community in order to reduce the inappropriate use of ITP therapies to treat a non-ITP related condition. The second goal of this study was to report on new genetic variants in IPDs.
The study took place at the University of Southern California at the Kenneth Norris Comprehensive Cancer Center. The study focused on 59 patient referrals with an initial diagnosis of ITP from the community, including some patients with refractory ITP. Testing included platelet assays, cytogenetics, and a 44 gene panel. Results revealed that of the 59 referrals analyzed, eight (14%) were incorrectly diagnosed as ITP. Two had myelodysplastic syndrome (MDS), and the remaining six had an IPD. Several of these had newly described genetic variants.
Comments from PDSA Medical Advisors:
Misdiagnoses of ITP can occur due to the complexity in accurately ruling out secondary causes of ITP and IPDs, especially, since the current diagnostic methods (platelet antibody testing) lack sensitivity and specificity. This study demonstrates the importance of obtaining a thorough family history, reviewing peripheral smears, and the utility of genetic testing when there is a suspicion of IPD. Identifying an IPD would avoid using ITP-directed therapies, which many IPD patients would not respond potentially to in certain types of IPDs.
For more information about ITP and Genetics, including inherited platelet disorders, click here.
Corticosteroids
Read about this treatment approach, mechanism of action, benefits, and side effects.