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Published in: BMC Nephrology 1/2013

Open Access 01-12-2013 | Research article

Thrombocytopenia is not mandatory to diagnose haemolytic and uremic syndrome

Authors: Marion Sallée, Khalil Ismail, Fadi Fakhouri, Henri Vacher-Coponat, Julie Moussi-Francés, Véronique Frémaux-Bacchi, Stéphane Burtey

Published in: BMC Nephrology | Issue 1/2013

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Abstract

Background

Hemolytic and uremic syndrome (HUS) diagnosis involves association of non immune hemolytic anemia, thrombocytopenia, and renal failure. HUS without thrombocytopenia has been observed, we call it partial HUS. Its real frequency and outcome are unknown. The aim of this study was to determine the prevalence of patients with normal platelets count in two HUS cohorts and to compare their outcome to patients with thrombocytopenia.

Methods

We retrospectively identified HUS diagnosis in two different cohorts. The first cohort was from a single center and consisted of all cases of HUS whatever the aetiology, the second was multicentric and consisted of atypical HUS patients. These cohorts were divided into two groups depending on the presence or absence of thrombocytopenia. Clinical and biological data were compared between thrombopenic and non thrombopenic group.

Results

We identified 13% (20/150) of patients with normal platelets count: 10 episodes (18%) of HUS in six patients (14%) in the monocentric cohort and 14 patients (13%) with 17 episodes (12%) in the multicentric cohort of atypical HUS. Groups differed in platelets count and LDH level. In both cohorts, renal outcome was similar to patient presenting with thrombocytopenia.

Conclusion

HUS with normal platelets count is not infrequent. Relative to classical clinical presentation of HUS, partial HUS has similar characteristics and identical poor renal outcome and so must be treated in the same way.
Literature
1.
go back to reference Kaplan BS, Meyers KE, Schulman SL: The pathogenesis and treatment of hemolytic uremic syndrome. J Am Soc Nephrol. 1998, 9 (6): 1126-1133.PubMed Kaplan BS, Meyers KE, Schulman SL: The pathogenesis and treatment of hemolytic uremic syndrome. J Am Soc Nephrol. 1998, 9 (6): 1126-1133.PubMed
2.
go back to reference Tsai HM, Lian EC: Antibodies to von willebrand factor-cleaving protease in acute thrombotic thrombocytopenic purpura. N Engl J Med. 1998, 339 (22): 1585-1594. 10.1056/NEJM199811263392203.CrossRefPubMedPubMedCentral Tsai HM, Lian EC: Antibodies to von willebrand factor-cleaving protease in acute thrombotic thrombocytopenic purpura. N Engl J Med. 1998, 339 (22): 1585-1594. 10.1056/NEJM199811263392203.CrossRefPubMedPubMedCentral
3.
go back to reference Furlan M, Robles R, Galbusera M, Remuzzi G, Kyrle PA, Brenner B, Krause M, Scharrer I, Aumann V, Mittler U, et al: von willebrand factor-cleaving protease in thrombotic thrombocytopenic purpura and the hemolytic-uremic syndrome. N Engl J Med. 1998, 339 (22): 1578-1584. 10.1056/NEJM199811263392202.CrossRefPubMed Furlan M, Robles R, Galbusera M, Remuzzi G, Kyrle PA, Brenner B, Krause M, Scharrer I, Aumann V, Mittler U, et al: von willebrand factor-cleaving protease in thrombotic thrombocytopenic purpura and the hemolytic-uremic syndrome. N Engl J Med. 1998, 339 (22): 1578-1584. 10.1056/NEJM199811263392202.CrossRefPubMed
4.
go back to reference Fremeaux-Bacchi V, Fakhouri F, Roumenina L, Dragon-Durey MA, Loirat C: Atypical hemolytic-uremic syndrome related to abnormalities within the complement system. Rev Med Interne. 2011, 32 (4): 232-240. 10.1016/j.revmed.2009.09.039.CrossRefPubMed Fremeaux-Bacchi V, Fakhouri F, Roumenina L, Dragon-Durey MA, Loirat C: Atypical hemolytic-uremic syndrome related to abnormalities within the complement system. Rev Med Interne. 2011, 32 (4): 232-240. 10.1016/j.revmed.2009.09.039.CrossRefPubMed
5.
go back to reference Noris M, Remuzzi G: Atypical hemolytic-uremic syndrome. N Engl J Med. 2009, 361 (17): 1676-1687. 10.1056/NEJMra0902814.CrossRefPubMed Noris M, Remuzzi G: Atypical hemolytic-uremic syndrome. N Engl J Med. 2009, 361 (17): 1676-1687. 10.1056/NEJMra0902814.CrossRefPubMed
6.
go back to reference Saunders RE, Abarrategui-Garrido C, Fremeaux-Bacchi V, Goicoechea de Jorge E, Goodship TH, Lopez Trascasa M, Noris M, Ponce Castro IM, Remuzzi G, Rodriguez de Cordoba S, et al: The interactive factor H-atypical hemolytic uremic syndrome mutation database and website, update and integration of membrane cofactor protein and factor I mutations with structural models. Hum Mutat. 2007, 28 (3): 222-234. 10.1002/humu.20435.CrossRefPubMed Saunders RE, Abarrategui-Garrido C, Fremeaux-Bacchi V, Goicoechea de Jorge E, Goodship TH, Lopez Trascasa M, Noris M, Ponce Castro IM, Remuzzi G, Rodriguez de Cordoba S, et al: The interactive factor H-atypical hemolytic uremic syndrome mutation database and website, update and integration of membrane cofactor protein and factor I mutations with structural models. Hum Mutat. 2007, 28 (3): 222-234. 10.1002/humu.20435.CrossRefPubMed
7.
go back to reference Fremeaux-Bacchi V, Moulton EA, Kavanagh D, Dragon-Durey MA, Blouin J, Caudy A, Arzouk N, Cleper R, Francois M, Guest G, et al: Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome. J Am Soc Nephrol. 2006, 17 (7): 2017-2025. 10.1681/ASN.2005101051.CrossRefPubMed Fremeaux-Bacchi V, Moulton EA, Kavanagh D, Dragon-Durey MA, Blouin J, Caudy A, Arzouk N, Cleper R, Francois M, Guest G, et al: Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome. J Am Soc Nephrol. 2006, 17 (7): 2017-2025. 10.1681/ASN.2005101051.CrossRefPubMed
8.
go back to reference Goicoechea De Jorge E, Harris CL, Esparza-Gordillo J, Carreras L, Arranz EA, Garrido CA, Lopez-Trascasa M, Sanchez-Corral P, Morgan BP, Rodriguez De Cordoba S: Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. Proc Natl Acad Sci U S A. 2007, 104 (1): 240-245. 10.1073/pnas.0603420103.CrossRefPubMed Goicoechea De Jorge E, Harris CL, Esparza-Gordillo J, Carreras L, Arranz EA, Garrido CA, Lopez-Trascasa M, Sanchez-Corral P, Morgan BP, Rodriguez De Cordoba S: Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. Proc Natl Acad Sci U S A. 2007, 104 (1): 240-245. 10.1073/pnas.0603420103.CrossRefPubMed
9.
go back to reference Kavanagh D, Kemp EJ, Mayland E, Winney RJ, Duffield JS, Warwick G, Richards A, Ward R, Goodship JA, Goodship TH: Mutations in complement factor I predispose to development of atypical hemolytic uremic syndrome. J Am Soc Nephrol. 2005, 16 (7): 2150-2155. 10.1681/ASN.2005010103.CrossRefPubMed Kavanagh D, Kemp EJ, Mayland E, Winney RJ, Duffield JS, Warwick G, Richards A, Ward R, Goodship JA, Goodship TH: Mutations in complement factor I predispose to development of atypical hemolytic uremic syndrome. J Am Soc Nephrol. 2005, 16 (7): 2150-2155. 10.1681/ASN.2005010103.CrossRefPubMed
10.
go back to reference Kavanagh D, Kemp EJ, Richards A, Burgess RM, Mayland E, Goodship JA, Goodship TH: Does complement factor B have a role in the pathogenesis of atypical HUS?. Mol Immunol. 2006, 43 (7): 856-859. 10.1016/j.molimm.2005.06.041.CrossRefPubMed Kavanagh D, Kemp EJ, Richards A, Burgess RM, Mayland E, Goodship JA, Goodship TH: Does complement factor B have a role in the pathogenesis of atypical HUS?. Mol Immunol. 2006, 43 (7): 856-859. 10.1016/j.molimm.2005.06.041.CrossRefPubMed
11.
go back to reference De Serres SA, Isenring P: Athrombocytopenic thrombotic microangiopathy, a condition that could be overlooked based on current diagnostic criteria. Nephrol Dial Transplant. 2009, 24 (3): 1048-1050.CrossRefPubMed De Serres SA, Isenring P: Athrombocytopenic thrombotic microangiopathy, a condition that could be overlooked based on current diagnostic criteria. Nephrol Dial Transplant. 2009, 24 (3): 1048-1050.CrossRefPubMed
12.
go back to reference Veyradier A, Obert B, Houllier A, Meyer D, Girma JP: Specific von willebrand factor-cleaving protease in thrombotic microangiopathies, a study of 111 cases. Blood. 2001, 98 (6): 1765-1772. 10.1182/blood.V98.6.1765.CrossRefPubMed Veyradier A, Obert B, Houllier A, Meyer D, Girma JP: Specific von willebrand factor-cleaving protease in thrombotic microangiopathies, a study of 111 cases. Blood. 2001, 98 (6): 1765-1772. 10.1182/blood.V98.6.1765.CrossRefPubMed
13.
go back to reference Sellier-Leclerc AL, Fremeaux-Bacchi V, Dragon-Durey MA, Macher MA, Niaudet P, Guest G, Boudailliez B, Bouissou F, Deschenes G, Gie S, et al: Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome. J Am Soc Nephrol. 2007, 18 (8): 2392-2400. 10.1681/ASN.2006080811.CrossRefPubMed Sellier-Leclerc AL, Fremeaux-Bacchi V, Dragon-Durey MA, Macher MA, Niaudet P, Guest G, Boudailliez B, Bouissou F, Deschenes G, Gie S, et al: Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome. J Am Soc Nephrol. 2007, 18 (8): 2392-2400. 10.1681/ASN.2006080811.CrossRefPubMed
14.
go back to reference Fakhouri F, Roumenina L, Provot F, Sallee M, Caillard S, Couzi L, Essig M, Ribes D, Dragon-Durey MA, Bridoux F, et al: Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutations. J Am Soc Nephrol. 2010, 21 (5): 859-867. 10.1681/ASN.2009070706.CrossRefPubMedPubMedCentral Fakhouri F, Roumenina L, Provot F, Sallee M, Caillard S, Couzi L, Essig M, Ribes D, Dragon-Durey MA, Bridoux F, et al: Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutations. J Am Soc Nephrol. 2010, 21 (5): 859-867. 10.1681/ASN.2009070706.CrossRefPubMedPubMedCentral
15.
go back to reference Dorresteijn EM, van de Kar NC, Cransberg K: Eculizumab as rescue therapy for atypical hemolytic uremic syndrome with normal platelet count. Pediatric nephrology. 2012, 27 (7): 1193-1195. 10.1007/s00467-012-2130-z.CrossRefPubMedPubMedCentral Dorresteijn EM, van de Kar NC, Cransberg K: Eculizumab as rescue therapy for atypical hemolytic uremic syndrome with normal platelet count. Pediatric nephrology. 2012, 27 (7): 1193-1195. 10.1007/s00467-012-2130-z.CrossRefPubMedPubMedCentral
16.
go back to reference George JN, Terrell DR, Swisher KK, Vesely SK: Lessons learned from the oklahoma thrombotic thrombocytopenic purpura-hemolytic uremic syndrome registry. J Clin Apher. 2008, 23 (4): 129-137. 10.1002/jca.20169.CrossRefPubMed George JN, Terrell DR, Swisher KK, Vesely SK: Lessons learned from the oklahoma thrombotic thrombocytopenic purpura-hemolytic uremic syndrome registry. J Clin Apher. 2008, 23 (4): 129-137. 10.1002/jca.20169.CrossRefPubMed
17.
go back to reference Vesely SK, George JN, Lammle B, Studt JD, Alberio L, El-Harake MA, Raskob GE: ADAMTS13 Activity in thrombotic thrombocytopenic purpura-hemolytic uremic syndrome, relation to presenting features and clinical outcomes in a prospective cohort of 142 patients. Blood. 2003, 102 (1): 60-68. 10.1182/blood-2003-01-0193.CrossRefPubMed Vesely SK, George JN, Lammle B, Studt JD, Alberio L, El-Harake MA, Raskob GE: ADAMTS13 Activity in thrombotic thrombocytopenic purpura-hemolytic uremic syndrome, relation to presenting features and clinical outcomes in a prospective cohort of 142 patients. Blood. 2003, 102 (1): 60-68. 10.1182/blood-2003-01-0193.CrossRefPubMed
Metadata
Title
Thrombocytopenia is not mandatory to diagnose haemolytic and uremic syndrome
Authors
Marion Sallée
Khalil Ismail
Fadi Fakhouri
Henri Vacher-Coponat
Julie Moussi-Francés
Véronique Frémaux-Bacchi
Stéphane Burtey
Publication date
01-12-2013
Publisher
BioMed Central
Published in
BMC Nephrology / Issue 1/2013
Electronic ISSN: 1471-2369
DOI
https://doi.org/10.1186/1471-2369-14-3

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