Evans syndrome
Evans syndrome is an autoimmune disease in which an individual's antibodies attack their own red blood cells and platelets.[1] Both of these events may occur simultaneously or one follow on from the other.[2]
Its overall pathology resembles a combination of autoimmune hemolytic anemia and idiopathic thrombocytopenic purpura.[1] Autoimmune hemolytic anemia is a condition in which the red blood cells that normally carry oxygen and carbon dioxide are destroyed by an autoimmune process. Idiopathic thrombocytopenic purpura is a condition in which platelets are destroyed by an autoimmune process. Platelets are a component of blood that contribute to the formation of blood clots in the body to prevent bleeding.
The syndrome was first described in 1951 by R. S. Evans and colleagues.[1]
Epidemiology
Signs and symptoms
It has been variously reported that between 10%[3] and 23%[4] of patients who have autoimmune haemolytic anaemia, will also have thrombocytopenia and thus Evans syndrome. The two features may occur together or sequentially.[5]
Causes
The precise cause is not yet known, but the immunology does differ from patients with just ITP with decreased T4 (T-helper), increased T8 (T-suppressor) and a decreased T4:T8 ratio. Together with decreased serum levels of IgG, IgM, and IgA these findings suggest an unsuccessful autoimmune response to an unknown trigger.[6]
Diagnosis
The diagnosis is made upon blood tests to confirm not only haemolytic anaemia and idiopathic thrombocytopenic purpura, but also a positive direct antiglobulin test (DAT) and an absence of any known underlying aetiology.[2]
Other antibodies may occur directed against neutrophils and lymphocytes,[7] and "immunopancytopenia" has been suggested as a better term for this syndrome.[8]
Treatment
Initial treatment is with glucocorticoid corticosteroids or intravenous immunoglobulin, a procedure that is also used in ITP cases.[9][10] In children, good response to a short steroid course is achieved in approximately 80 percent of cases.[11] Although the majority of cases initially respond well to treatment, relapses are not uncommon and immunosuppressive drugs (e.g. ciclosporin,[12][13] mycophenolate mofetil, vincristine[14] and danazol[15]) are subsequently used,[2] or combinations of these.[16]
The off-label use of rituximab (trade name Rituxan) has produced some good results in acute and refractory cases,[11][17] although further relapse may occur within a year.[2] Splenectomy is effective in some cases,[18] but relapses are not uncommon.[19]
The only prospect for a permanent cure is the high-risk option of an allogeneic hematopoietic stem cell transplantation (SCT).[20][21]
Prognosis
Evan's syndrome is rare, serious, and has a reported mortality rate of seven percent.
It has been observed that there is a risk of developing other autoimmune problems and hypogammaglobulinemia,[22] with recent research finding that 58% of children with Evans syndrome have CD4-/CD8- T cells which is a strong predictor for having autoimmune lymphoproliferative syndrome.[23]
Resources
References
- ^ a b c Evans RS, Takahashi K, Duane RT, Payne R, Liu C (1951). "Primary thrombocytopenic purpura and acquired hemolytic anemia; evidence for a common etiology". A.M.AARRAYrchives of internal medicine 87 (1): 48–65. PMID 14782741.
- ^ a b c d Norton A, Roberts I (2006). "Management of Evans syndrome". Br. J. Haematol. 132 (2): 125–37. doi:10.1111/j.1365-2141.2005.05809.x. PMID 16398647.
- ^ Evan's syndrome at GPnotebook
- ^ Cai JR, Yu QZ, Zhang FQ (1989). "[Autoimmune hemolytic anemia: clinical analysis of 100 cases]" (in Chinese). Zhonghua Nei Ke Za Zhi 28 (11): 670–3, 701–2. PMID 2632179.
- ^ Ng SC (1992). "Evans syndrome: a report on 12 patients". Clinical and laboratory haematology 14 (3): 189–93. doi:10.1111/j.1365-2257.1992.tb00364.x. PMID 1451398.
- ^ Wang W, Herrod H, Pui CH, Presbury G, Wilimas J (1983). "Immunoregulatory abnormalities in Evans syndrome". Am. J. Hematol. 15 (4): 381–90. doi:10.1002/ajh.2830150409. PMID 6606357.
- ^ Pegels JG, Helmerhorst FM, van Leeuwen EF, van de Plas-van Dalen C, Engelfriet CP, von dem Borne AE (1982). "The Evans syndrome: characterization of the responsible autoantibodies". Br. J. Haematol. 51 (3): 445–50. doi:10.1111/j.1365-2141.1982.tb02801.x. PMID 7104228.
- ^ Pui CH, Wilimas J, Wang W (1980). "Evans syndrome in childhood". J. Pediatr. 97 (5): 754–8. doi:10.1016/S0022-3476(80)80258-7. PMID 7191890.
- ^ Nuss R, Wang W (1987). "Intravenous gamma globulin for thrombocytopenia in children with Evans syndrome". The American journal of pediatric hematology/oncology 9 (2): 164–7. doi:10.1097/00043426-198722000-00012. PMID 2438958.
- ^ Mehta JB, Singhal SB, Mehta BC (1992). "Intravenous immunoglobulin therapy of idiopathic thrombocytopenia". The Journal of the Association of Physicians of India 40 (5): 340–2. PMID 1483999.
- ^ a b Zecca M, Nobili B, Ramenghi U et al. (15 May 2003). "Rituximab for the treatment of refractory autoimmune hemolytic anemia in children". Blood 101 (10): 3857–61. doi:10.1182/blood-2002-11-3547. PMID 12531800. http://bloodjournal.hematologylibrary.org/cgi/content/full/101/10/3857.
- ^ Emilia G, Messora C, Longo G, Bertesi M (1996). "Long-term salvage treatment by cyclosporin in refractory autoimmune haematological disorders". Br. J. Haematol. 93 (2): 341–4. doi:10.1046/j.1365-2141.1996.4871026.x. PMID 8639426.
- ^ Liu H, Shao Z, Jing L (2001). "[The effectiveness of cyclosporin A in the treatment of autoimmune hemolytic anemia and Evans syndrome]" (in Chinese). Zhonghua Xue Ye Xue Za Zhi 22 (11): 581–3. PMID 11855146.
- ^ Yokoyama K, Kojima M, Komatsumoto S et al. (1992). "[Thrombotic thrombocytopenic purpura achieving complete remission by slow infusion of vincristine]" (in Japanese). Rinsho Ketsueki 33 (8): 1084–9. PMID 1404865.
- ^ Koike M, Ishiyama T, Saito K et al. (1993). "[Effective danazol therapy for a patient with Evans syndrome]" (in Japanese). Rinsho Ketsueki 34 (2): 143–6. PMID 8492411.
- ^ Scaradavou A, Bussel J (1995). "Evans syndrome. Results of a pilot study utilizing a multiagent treatment protocol". J. Pediatr. Hematol. Oncol. 17 (4): 290–5. doi:10.1097/00043426-199511000-00003. PMID 7583383.
- ^ Shanafelt TD, Madueme HL, Wolf RC, Tefferi A (November 2003). "Rituximab for immune cytopenia in adults: idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and Evans syndrome" (PDF). Mayo Clin. Proc. 78 (11): 1340–6. doi:10.4065/78.11.1340. PMID 14601692. http://www.mayoclinicproceedings.com/pdf/7811/7811a3.pdf.
- ^ Hamidah A, Thambidorai CR, Jamal R (2005). "Prolonged remission after splenectomy for refractory Evans syndrome--a case report and literature review". Southeast Asian J. Trop. Med. Public Health 36 (3): 762–4. PMID 16124452.
- ^ Mathew P, Chen G, Wang W (1997). "Evans syndrome: results of a national survey". J. Pediatr. Hematol. Oncol. 19 (5): 433–7. doi:10.1097/00043426-199709000-00005. PMID 9329465.
- ^ Martino R, Sureda A, Brunet S (1997). "Peripheral blood stem cell mobilization in refractory autoimmune Evans syndrome: a cautionary case report" (PDF). Bone Marrow Transplant. 20 (6): 521. doi:10.1038/sj.bmt.1700924. PMID 9313889. http://www.nature.com/bmt/journal/v20/n6/pdf/1700924a.pdf.
- ^ Oyama Y, Papadopoulos EB, Miranda M, Traynor AE, Burt RK (2001). "Allogeneic stem cell transplantation for Evans syndrome". Bone Marrow Transplant. 28 (9): 903–5. doi:10.1038/sj.bmt.1703237. PMID 11781654. http://www.nature.com/bmt/journal/v28/n9/full/1703237a.html.
- ^ Wang WC (1988). "Evans syndrome in childhood: pathophysiology, clinical course, and treatment". The American journal of pediatric hematology/oncology 10 (4): 330–8. doi:10.1097/00043426-198824000-00013. PMID 3071168.
- ^ Teachey DT, Manno CS, Axsom KM et al. (2005). "Unmasking Evans syndrome: T-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS)". Blood 105 (6): 2443–8. doi:10.1182/blood-2004-09-3542. PMID 15542578. http://bloodjournal.hematologylibrary.org/cgi/content/full/105/6/2443.