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

被引:193
作者
Moatti-Cohen, Marie [1 ,2 ]
Garrec, Celine [3 ]
Wolf, Martine [1 ,2 ]
Boisseau, Pierre [3 ]
Galicier, Lionel [4 ]
Azoulay, Elie [5 ]
Stepanian, Alain [6 ]
Delmas, Yahsou [7 ]
Rondeau, Eric [8 ]
Bezieau, Stephane [3 ]
Coppo, Paul [9 ]
Veyradier, Agnes [1 ,2 ]
机构
[1] Hop Antoine Beclere, AP HP, Serv Hematol Biol, F-92140 Clamart, France
[2] Univ Paris 11, INSERM, U770, Le Kremlin Bicetre, France
[3] CHU Nantes, Serv Genet Med, F-44035 Nantes 01, France
[4] Hop St Louis, AP HP, Dept Clin Immunol, Paris, France
[5] Hop St Louis, AP HP, Serv Reanimat Med, Paris, France
[6] Hop Louis Mourier, AP HP, Serv Hematol Biol, F-92701 Colombes, France
[7] CHU Bordeaux, Serv Nephrol Transplantat Dialyse, Bordeaux, France
[8] Hop Tenon, AP HP, Serv Nephrol, F-75970 Paris, France
[9] Univ Paris 06, Hop St Antoine, AP HP, Dept Clin Hematol, Paris, France
关键词
HEMOLYTIC-UREMIC SYNDROME; FACTOR-CLEAVING PROTEASE; PLASMA-EXCHANGE; SUCCESSFUL MANAGEMENT; MISSENSE MUTATION; ADAMTS13; ACTIVITY; MICROANGIOPATHIES; REGISTRY; ADULT; INFUSION;
D O I
10.1182/blood-2012-02-408914
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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. (Blood. 2012; 119(24):5888-5897)
引用
收藏
页码:5888 / 5897
页数:10
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