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[The Wiskott-Aldrich syndrome in adulthood]
A Matzdorff1, A Meindl, H Pralle
1Abteilung Hämatologie/Internistische Onkologie, Justus-Liebig-Universität Giessen. axel.matzdorff@innere.med.uni-giessen.de
History And Admission Findings:
A 24-year-old man with thrombocytopenia was referred for surgical resection of a bleeding polyp of the sigmoid. Examination showed a small haematoma and petechiae on both lower legs. The patient reported that several male family members also had a thrombocytopenic bleeding tendency.
Investigations:
Laboratory tests revealed thrombocytopenia (4000 platelets/ml, with small platelets: mean platelet volume [MPV] 5.6 ml). Serum immunoglobulins were normal. A mutation in the Wiskott-Aldrich (W-A) protein gene (intron 7 + 5 G-->A) was demonstrated both in the patient and his 26-year-old brother.
Diagnosis, Treatment And Course:
The diagnosis of W-A syndrome was made and, with perioperative administration of platelets, the polyp was resected without complication.
Conclusion:
Most patients with the W-A syndrome die by the time they are aged 10 years, unless appropriate treatment is given. This patient and his brother had a mutation of the W-A protein gene that unusually was in an intron rather than in an exon. Structurally normal W-A proteins were still being formed. This may explain the mild course and late onset of the disease.