Background: Immune thrombocytopenia (ITP) remains the most frequent diagnosis in isolated thrombocytopenia in children, however other causes must always be investigated before reaching diagnosis.

Aims: To present 3 cases of thrombocytopenia initially considered as ITP that proved to be attributed to other causative mechanisms.

Methods: Retrospective review of patient files.

Results: The first case concerns a 14-year old girl presenting to the ER with mild intermittent abdominal pain. Isolated thrombocytopenia with a platelet number of 60.000/µl was found at work up and the child was admitted with a diagnosis of ITP. Abdomen ultrasound routinely performed in such cases revealed abnormal position of the spleen with fluid presence underneath. CT scan established the diagnosis of a “wandering spleen”. The patient underwent splenectomy and spleen auto-transplantation, with platelets returning to normal following surgery.
The second case concerns a 17-year old girl diagnosed with mild chronic ITP before referral. She reported a mild bleeding phenotype and a platelet count of approximately ~70.000/µl. Platelet morphology was normal but testing of other family members revealed thrombocytopenia in two of her five adult siblings. Hereditary thrombocytopenia was suspected and genetic testing followed.
The third case concerns a 5-year old boy referred with a diagnosis of ITP from infancy. A mild bleeding phenotype was reported along with persistent eczema and occasional infections. Wiscott-Aldrich Syndrome was suspected and then diagnosed by genetic testing.

Conclusions: Although ITP remains the main diagnosis in isolated childhood thrombocytopenia, low platelet count may arise from decreased production or mechanical destruction and should always be excluded before setting diagnosis.

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ISTH Congress Abstracts - https://abstracts.isth.org/abstract/isolated-thrombocytopenia-in-children-is-not-always-an-immune-associated-disorder/