Unexpected frequency of Upshaw-Schulman syndrome in pregnancy-onset thrombotic thrombocytopenic purpura.

Abstract

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.

• Authors: 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, French Reference Center for Thrombotic Microangiopathies
• Journal: Blood (Blood) Vol. 119 Issue 24 Pg. 5888-97 (Jun 14 2012) ISSN: 1528-0020 [Electronic] United States
• PMID: 22547583 (Publication Type: Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't)

Chemical References

• ADAM Proteins
• ADAMTS13 Protein
• ADAMTS13 protein, human

Topics

• ADAM Proteins (deficiency, genetics, metabolism)
• ADAMTS13 Protein
• Adult
• Cohort Studies
• Diagnosis, Differential
• Female
• Follow-Up Studies
• France (epidemiology)
• Genetic Diseases, Inborn (diagnosis, genetics)
• Genotype
• Humans
• Male
• Mutation (genetics)
• Pedigree
• Polymorphism, Single Nucleotide (genetics)
• Pregnancy
• Pregnancy Complications, Hematologic (diagnosis, epidemiology, genetics)
• Purpura, Thrombotic Thrombocytopenic (diagnosis, epidemiology, genetics)
• Registries
• Treatment Outcome