Assessment of immature platelet fraction in the diagnosis of Wiskott-Aldrich syndrome
Children with Wiskott-Aldrich syndrome (WAS) are often first diagnosed with immune thrombocytopenia (ITP), potentially leading to both inappropriate treatment and the delay of life-saving definitive therapy. WAS is traditionally differentiated from ITP based on the small size of WAS platelets. In pr...
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2015-06-01
|
| Series: | Frontiers in Pediatrics |
| Subjects: | |
| Online Access: | http://journal.frontiersin.org/Journal/10.3389/fped.2015.00049/full |
| _version_ | 1811308636748644352 |
|---|---|
| author | Robert eSokolic Robert eSokolic Neal eOden Fabio eCandotti Fabio eCandotti |
| author_facet | Robert eSokolic Robert eSokolic Neal eOden Fabio eCandotti Fabio eCandotti |
| author_sort | Robert eSokolic |
| collection | DOAJ |
| description | Children with Wiskott-Aldrich syndrome (WAS) are often first diagnosed with immune thrombocytopenia (ITP), potentially leading to both inappropriate treatment and the delay of life-saving definitive therapy. WAS is traditionally differentiated from ITP based on the small size of WAS platelets. In practice, microthrombocytopenia is often not present or not appreciated in children with WAS. To develop an alternative method of differentiating WAS from ITP, we retrospectively reviewed all complete blood counts and measurements of immature platelet fraction (IPF) in 18 subjects with WAS and 38 subjects with a diagnosis of ITP treated at our hospital. Examination of peripheral blood smears revealed a wide range of platelet sizes in subjects with WAS. Mean platelet volume (MPV) was not reported in 26% of subjects, and subjects in whom MPV was not reported had lower platelet counts than did subjects in whom MPV was reported. Subjects with WAS had a lower immature platelet fraction (IPF) than would be expected for their level of thrombocytopenia, and the IPF in subjects with WAS was significantly lower than in subjects with a diagnosis of ITP. Using logistic regression, we developed and validated a rule based on platelet count and IPF that was more sensitive for the diagnosis of WAS than was the MPV, and was applicable regardless of the level of platelets or the availability of the MPV. Our observations demonstrate that MPV is often not available in severely thrombocytopenic subjects, which may hinder the diagnosis of WAS. In addition, subjects with WAS have a low IPF, which is consistent with the notion that a platelet production defect contributes to the thrombocytopenia of WAS. Knowledge of this detail of WAS pathophysiology allows to differentiate WAS from ITP with increased sensitivity, thereby allowing a physician to spare children with WAS from inappropriate treatment, and make definitive therapy available in a timely manner. |
| first_indexed | 2024-04-13T09:26:49Z |
| format | Article |
| id | doaj.art-8afdcd39135a45bf962da09b52e4e171 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-04-13T09:26:49Z |
| publishDate | 2015-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-8afdcd39135a45bf962da09b52e4e1712022-12-22T02:52:24ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602015-06-01310.3389/fped.2015.00049139379Assessment of immature platelet fraction in the diagnosis of Wiskott-Aldrich syndromeRobert eSokolic0Robert eSokolic1Neal eOden2Fabio eCandotti3Fabio eCandotti4Food and Drug AdministrationNational Institutes of HealthEmmes CorporationUniversity Hospital of LausanneNational Institutes of HealthChildren with Wiskott-Aldrich syndrome (WAS) are often first diagnosed with immune thrombocytopenia (ITP), potentially leading to both inappropriate treatment and the delay of life-saving definitive therapy. WAS is traditionally differentiated from ITP based on the small size of WAS platelets. In practice, microthrombocytopenia is often not present or not appreciated in children with WAS. To develop an alternative method of differentiating WAS from ITP, we retrospectively reviewed all complete blood counts and measurements of immature platelet fraction (IPF) in 18 subjects with WAS and 38 subjects with a diagnosis of ITP treated at our hospital. Examination of peripheral blood smears revealed a wide range of platelet sizes in subjects with WAS. Mean platelet volume (MPV) was not reported in 26% of subjects, and subjects in whom MPV was not reported had lower platelet counts than did subjects in whom MPV was reported. Subjects with WAS had a lower immature platelet fraction (IPF) than would be expected for their level of thrombocytopenia, and the IPF in subjects with WAS was significantly lower than in subjects with a diagnosis of ITP. Using logistic regression, we developed and validated a rule based on platelet count and IPF that was more sensitive for the diagnosis of WAS than was the MPV, and was applicable regardless of the level of platelets or the availability of the MPV. Our observations demonstrate that MPV is often not available in severely thrombocytopenic subjects, which may hinder the diagnosis of WAS. In addition, subjects with WAS have a low IPF, which is consistent with the notion that a platelet production defect contributes to the thrombocytopenia of WAS. Knowledge of this detail of WAS pathophysiology allows to differentiate WAS from ITP with increased sensitivity, thereby allowing a physician to spare children with WAS from inappropriate treatment, and make definitive therapy available in a timely manner.http://journal.frontiersin.org/Journal/10.3389/fped.2015.00049/fullThrombocytopeniaWiskott-Aldrich Syndromedifferential diagnosisImmune thrombocytopenic purpuraImmature platelet fraction |
| spellingShingle | Robert eSokolic Robert eSokolic Neal eOden Fabio eCandotti Fabio eCandotti Assessment of immature platelet fraction in the diagnosis of Wiskott-Aldrich syndrome Frontiers in Pediatrics Thrombocytopenia Wiskott-Aldrich Syndrome differential diagnosis Immune thrombocytopenic purpura Immature platelet fraction |
| title | Assessment of immature platelet fraction in the diagnosis of Wiskott-Aldrich syndrome |
| title_full | Assessment of immature platelet fraction in the diagnosis of Wiskott-Aldrich syndrome |
| title_fullStr | Assessment of immature platelet fraction in the diagnosis of Wiskott-Aldrich syndrome |
| title_full_unstemmed | Assessment of immature platelet fraction in the diagnosis of Wiskott-Aldrich syndrome |
| title_short | Assessment of immature platelet fraction in the diagnosis of Wiskott-Aldrich syndrome |
| title_sort | assessment of immature platelet fraction in the diagnosis of wiskott aldrich syndrome |
| topic | Thrombocytopenia Wiskott-Aldrich Syndrome differential diagnosis Immune thrombocytopenic purpura Immature platelet fraction |
| url | http://journal.frontiersin.org/Journal/10.3389/fped.2015.00049/full |
| work_keys_str_mv | AT robertesokolic assessmentofimmatureplateletfractioninthediagnosisofwiskottaldrichsyndrome AT robertesokolic assessmentofimmatureplateletfractioninthediagnosisofwiskottaldrichsyndrome AT nealeoden assessmentofimmatureplateletfractioninthediagnosisofwiskottaldrichsyndrome AT fabioecandotti assessmentofimmatureplateletfractioninthediagnosisofwiskottaldrichsyndrome AT fabioecandotti assessmentofimmatureplateletfractioninthediagnosisofwiskottaldrichsyndrome |