Unexpected frequency of Upshaw-Schulman syndrome in pregnancy-onset thrombotic thrombocytopenic purpura
| العنوان: | Unexpected frequency of Upshaw-Schulman syndrome in pregnancy-onset thrombotic thrombocytopenic purpura |
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| المؤلفون: | Marie, Moatti-Cohen, Céline, Garrec, Martine, Wolf, Pierre, Boisseau, Lionel, Galicier, Elie, Azoulay, Alain, Stepanian, Yahsou, Delmas, Eric, Rondeau, Stéphane, Bezieau, Paul, Coppo, Agnès, Veyradier, Marc, Buffet |
| المصدر: | Blood. 119:5888-5897 |
| بيانات النشر: | American Society of Hematology, 2012. |
| سنة النشر: | 2012 |
| مصطلحات موضوعية: | Adult, Male, Pediatrics, medicine.medical_specialty, Genotype, Immunology, Thrombotic thrombocytopenic purpura, ADAMTS13 Protein, Congenital Thrombotic Thrombocytopenic Purpura, Polymorphism, Single Nucleotide, Biochemistry, Cohort Studies, Diagnosis, Differential, Pregnancy, hemic and lymphatic diseases, medicine, Coagulopathy, Humans, Registries, Upshaw–Schulman syndrome, Purpura, Thrombotic Thrombocytopenic, Vascular disease, business.industry, Pregnancy Complications, Hematologic, Genetic Diseases, Inborn, Cell Biology, Hematology, respiratory system, medicine.disease, ADAMTS13, Pedigree, Surgery, ADAM Proteins, Treatment Outcome, Mutation, Female, France, Age of onset, business, Follow-Up Studies |
| الوصف: | Pregnancy may be complicated by a rare but life-threatening disease called thrombotic thrombocytopenic purpura (TTP). Most cases of TTP are due to an acquired autoimmune or hereditary (Upshaw-Schulman syndrome [USS]) severe deficiency of a disintegrin and metalloprotease with thrombospondin type 1 repeats, member 13 (ADAMTS13). In the present study, we performed a cross-sectional analysis of the national registry of the French Reference Center for Thrombotic Microangiopathies from 2000-2010 to identify all women who were pregnant at their initial TTP presentation. Among 592 adulthood-onset TTP patients with a severe ADAMTS13 deficiency, 42 patients with a pregnancy-onset TTP were included. Surprisingly, the proportion of USS patients (n = 10 of 42 patients [24%]; confidence interval, 13%-39%) with pregnancy-onset TTP was much higher than that in adulthood-onset TTP in general (less than 5%) and was mostly related to a cluster of ADAMTS13 variants. In the present study, subsequent pregnancies in USS patients not given prophylaxis were associated with very high TTP relapse and abortion rates, whereas prophylactic plasmatherapy was beneficial for both the mother and the baby. Pregnancy-onset TTP defines a specific subgroup of patients with a strong genetic background. This study was registered at www.clinicaltrials.gov as number NCT00426686 and at the Health Authority, French Ministry of Health, as number P051064. |
| تدمد: | 1528-0020 0006-4971 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::971b6ad3f1ef5799935b43f2ce5fb6f4Test https://doi.org/10.1182/blood-2012-02-408914Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....971b6ad3f1ef5799935b43f2ce5fb6f4 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15280020 00064971 |
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