IMEX   05356
INSTITUTO DE MEDICINA EXPERIMENTAL
Unidad Ejecutora - UE
congresos y reuniones científicas
Título:
Platelet type von Willebrand disease (PT-VWD) posing diagnostic and therapeutic challenges - small case series.
Autor/es:
SANCHEZ-LUCEROS A, WOODS AI, BERMEJO E, SHUKLA S, ACHARYA S, LAVIN M, RYDZ N, OTHMAN M.
Lugar:
Montpeliere
Reunión:
Congreso; Congress of ISTH-SSC; 2016
Resumen:
Platelet type von Willebrand disease(PT-VWD) posing diagnostic and therapeutic challenges- small case series Background:Despitethe substantial improvement in the worldwide awareness of diagnosis and treatmentof PT-VWD over the last decade, mysteries remain around this rare plateletbleeding disorder. Aim: Tocorrectly identify and study new patients. Methods: We describe 4 PT-VWD cases confirmed by genetic analysis inwhich either the diagnosis and/or the treatment posed a unique challenge. Results:Case 1:presentation at 45 days of life, long history of bleeding and misdiagnosis asITP for over 12 years. Unexplained complicated obstetric history in theun-affected mother raised a question about the impact of the carrier status ofthe fetus. Meticulous platelet mixing studies were sufficient to diagnose thedisease. Very large active platelets on blood smear and impaired plateletaggregation in response to ADP and collagen. Case 2: Thrombocytopenia in theneonatal period misdiagnosed as alloimmune neonatal thrombocytopenia. Patientresponded to VWF concentrate (Humate P) without a significant thrombocytopenia.The youngest patient to be diagnosed (1 year of age). No family history ofPT-VWD and both parents show normal VWF panel, VWF multimers and RIPA. Case 3:unexplained gestational thrombocytopenia in two pregnancies with uncommon HLAtype as well as detectable HLA Class I IgG antibodies. The patient experiencedanaphylactic reaction to VWF concentrate (Fandhi) but was successfully treatedwith DDAVP combined with tranexamic acid with no significant thrombocytopenia.Case 4: gestational thrombocytopenia in a patient with type 2B-VWD. HLA class Iand II antibodies were detected. Serial platelet counts in two consecutivepregnancies showed progressive thrombocytopenia with normal VWF levels.Platelet count was normalized at 2.5 weeks postpartum. Platelet aggregation inresponse to ADP and collagen was normal. Conclusion:These case studies represent a record of clinicalobservations and interventions that help improve diagnoses/managements of thedisease and additionally serve as a valuable teaching material.