Patients with sickle cell disease (SCD) present a defective activation of the alternate complement pathway that increases the risk of infection and is thought to predispose to autoimmune disease (AID). However, coexisting AID and SCD is rarely reported, suggesting possible underdiagnosis due to an overlapping of the symptoms.
Among 603 patients with SCD followed between 1999 and June 2016, we retrospectively searched for patients with coexisting SCD and AID.
We identified 8 patients aged from 7 to 17 years diagnosed with AID; juvenile idiopathic arthritis (n = 3), systemic lupus erythematosus (n = 2), Sjögren’s syndrome (n = 1) and autoimmune hepatitis (n = 2). The diagnosis of AID was often delayed due to similarities of the symptoms with those of SCD. Patients treated with steroids experienced multiple vaso-occlusive crises and received prophylactic chronic blood transfusions when it was possible. Tolerance to other immunosuppressive and biological treatments, such as anti-TNF agents, was good. A remission of AID was achieved in 4 patients, without worsening the course of the SCD. One patient underwent a geno-identical hematopoietic stem cell transplantation that cured both diseases. Another one underwent a successful liver transplantation.
Coexistence of AID and SCD generates diagnostic and therapeutic challenges. Early diagnosis of AID is important to define the best treatment, which may include targeted biological therapy.
Adelowo O, Edunjobi AS. Juvenile idiopathic arthritis coexisting with sickle cell disease: two case reports. BMJ. 2011; doi: https://doi.org/10.1136/bcr.2011.4889.
Eberhard BA. Coexistent sickle cell disease and juvenile rheumatoid arthritis: 2 cases with delayed diagnosis and severe destructive arthropathy. J Rheumatol. 2002;29:1802. author reply 1802-3 PubMed
Nistala K, Murray KJ. Co-existent sickle cell disease and juvenile rheumatoid arthritis. Two cases with delayed diagnosis and severe destructive arthropathy. J Rheumatol. 2001;28:2125–8. PubMed
El Younis CM, Min AD, Fiel MI, Klion FM, Thung SN, Faire B, Miller CM, Bodenheimer HC Jr. Autoimmune hepatitis in a patient with sickle cell disease. Am J Gastroenterol. 1996;91:1016–8. PubMed
Landais P, Messiaen C, Rath A, Le Mignot L, Dufour E, Ben Said M, Jais JP, Toubiana L, Baujat G, Bourdon-Lanoy E, Gérard-Blanluet M, Bodemer C, Salomon R, Aymé S, Le Merrer M, Verloes A, CEMARA task force. CEMARA an information system for rare diseases. Stud Health Technol Inform. 2010;160:481–5. PubMed
Haffejee IE, Raga J, Coovadia HM. Juvenile chronic arthritis in black and Indian south African children. S Afr Med J. 1984;65:510–4. PubMed
Vaiopoulos G, Konstantopolous K, Osterland CK. Asplenia in systemic lupus erythematosus: a simple coincidence? Clin Exp Rheumatol. 1995;13:513–5. PubMed
de Vlam K, De Keyser F, Verbruggen G, Vandenbossche M, Vanneuville B, D'Haese D, Veys EM. Detection and identification of antinuclear autoantibodies in the serum of normal blood donors. Clin Exp Rheumatol. 1993;11:393–7. PubMed
Hilário MO, Len CA, Roja SC, Terreri MT, Almeida G, Andrade LE. Frequency of antinuclear antibodies in healthy children and adolescents. Clin Pediatr. 2004;43:637–42. CrossRef
Balsalobre B, Hernández-Godoy J, Planelles D. Autoantibodies in splenectomized patients as a consequence of abdominal trauma. J Investig Allergol Clin Immunol. 1992;2:91–5. PubMed
Quartier P, Taupin P, Bourdeaut F, Lemelle I, Pillet P, Bost M, Sibilia J, Koné-Paut I, Gandon-Laloum S, LeBideau M, Bader-Meunier B, Mouy R, Debré M, Landais P, Prieur AM. Efficacy of etanercept for the treatment of juvenile idiopathic arthritis according to the onset type. Arthritis Rheum. 2003;48:1093–101. CrossRefPubMed
Horneff G, Schmeling H, Biedermann T, Foeldvari I, Ganser G, Girschick HJ, Hospach T, Huppertz HI, Keitzer R, Küster RM, Michels H, Moebius D, Rogalski B, Thon A, Paediatric Rheumatology Collaborative Group. The German etanercept registry for treatment of juvenile idiopathic arthritis. Ann Rheum Dis. 2004;63:1638–44. CrossRefPubMedPubMedCentral
Solovey A, Somani A, Chen C, et al. Interference with TNFα using long-term etanercept in S +S Antilles sickle transgenic mice ameliorates abnormal endothelial activation, vasoocclusion, and pulmonary hypertension including its pulmonary arterial wall remodeling. Blood. 2013;122:728.
- Coexistent sickle-cell anemia and autoimmune disease in eight children: pitfalls and challenges
Mariane de Montalembert
- BioMed Central