Abstract Number: PB1510
Meeting: ISTH 2020 Congress
Background: Leukocyte adhesion deficiency type III (LAD-III) is characterized by both severe bacterial infections and a severe bleeding disorder. LAD-III is rare autosomal recessive disorder and it is caused by mutations in the FERMT3 gene. The immune defects are supplemented by a Glanzmann thrombasthenia-like bleeding tendency.
Aims: Recognize the LAD III which can wrongly evoke the diagnosis of Glanzmann´s disease.
Methods: We carried out the platelet count, the primary hemostasis balance with platelet functions studies by aggregometry, flow cytometry and gene sequencing.
Results: The male propositus has recurrent mucocutaneous haemorrhages and bacterial infections. In the family history two sisters is died. Propositus has normal platelet morphology and normal platelet count. Platelet function studies showed no platelet aggregation with multiple agonists and normal platelet aggregation with ristocetin. The GPIIb-IIIa expression rate’s by flow cytometry is approximately 50% at the propositus and the parents. No mutation was found.
Propositus has CD18 expression defect.
Conclusions: Differential diagnosis with GT is important because treatment and prognosis are differents.
To cite this abstract in AMA style:Mendi K, Dahmane M, Jallu V, Petermann R. LAD III, Platelet Pathology Related to GT: A Case Report [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/lad-iii-platelet-pathology-related-to-gt-a-case-report/. Accessed January 28, 2022.
« Back to ISTH 2020 Congress
ISTH Congress Abstracts - https://abstracts.isth.org/abstract/lad-iii-platelet-pathology-related-to-gt-a-case-report/