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Diagnostic Challenges in Children With Congenital Bleeding Disorders: A Developing Country Perspective
1Foundation University Medical College/Foundation University Islamabad, Islamabad, Pakistan.
Insights
Misdiagnosis of inherited bleeding disorders in children is common, leading to incorrect treatment. Comprehensive evaluations are crucial to prevent inappropriate management and ensure accurate diagnosis.
Area of Science:
- Pediatric Hematology
- Clinical Pathology
Background:
- Inherited bleeding disorders are often complex to diagnose.
- Misdiagnosis can lead to significant patient harm and delayed appropriate care.
Purpose of the Study:
- To determine the incidence and features of misdiagnosed inherited bleeding disorders in children.
- To highlight the consequences of inappropriate disease management due to diagnostic errors.
Main Methods:
- Retrospective analysis of pediatric patients diagnosed with bleeding disorders at Fauji Foundation Hospital, Pakistan (August 2014 - August 2018).
- Re-evaluation of children with inherited bleeding disorders who did not respond to initial therapy.
Main Results:
- Out of 27 children with inherited bleeding disorders, 18% (5 patients) were misdiagnosed.
- Misdiagnosed conditions included Bernard-Soulier syndrome, von Willebrand disease, and hemophilia B.
- Incorrect diagnoses included immune thrombocytopenic purpura and hemophilia A.
Conclusions:
- Inadequate laboratory and clinical evaluations increase the risk of misdiagnosis in pediatric congenital bleeding disorders.
- Proper diagnostic workup is essential to avoid improper or invasive management strategies.
Objectives:
To assess the frequency and characteristics of children with inherited bleeding disorders that were initially misdiagnosed, leading to inappropriate disease management.
Methods:
This study was conducted at the Haematology/Pathology Department of Fauji Foundation Hospital, Rawalpindi, Pakistan, from August 2014 to August 2018. Children who were diagnosed with an inherited bleeding disorder but did not respond to initial therapy were reevaluated.
Results:
In total, 62 children were diagnosed with a bleeding disorder. Of these, 27 were diagnosed with an inherited bleeding disorder and 35 with an acquired bleeding disorder. Of the 27 children with inherited bleeding disorders, 18% (n = 5) were misdiagnosed and treated inappropriately. The median age of the misdiagnosed patients was 9 years (range, 5-13 years). Three patients with Bernard-Soulier syndrome had been misdiagnosed as having immune thrombocytopenic purpura, 1 patient with von Willebrand disease had been misdiagnosed as having hemophilia A, and 1 patient with haemophilia B had been misdiagnosed as having hemophilia A.
Conclusions:
There are chances of misdiagnosis and improper or invasive management if comprehensive laboratory evaluation and a thorough clinical evaluation are not performed in children with congenital bleeding disorders.
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