Abstract
BackgroundPatients 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.Study designAmong 603 patients with SCD followed between 1999 and June 2016, we retrospectively searched for patients with coexisting SCD and AID.ResultsWe 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.ConclusionCoexistence 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.
Highlights
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)
Patients with SCD display a defective activation of the alternate complement pathway, leading to an increased risk of infection with encapsulated bacteria [1,2,3]
Complete remission of the AID was obtained for 4 patients with a classical immunosuppressive treatment (n = 1), biological treatment (n = 2) or genoidentical hematopoietic stem cell transplantation (n = 1), 1 patient had arthritis sequelae
Summary
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). Patients with SCD display a defective activation of the alternate complement pathway, leading to an increased risk of infection with encapsulated bacteria (pneumococci, Haemophilus influenzae) [1,2,3]. Manifestations of AID, such as fever, polyarthritis, and multiorgan involvement, can be caused by SCD, leading to a delay in diagnosing the AID [11]. Antiinflammatory drugs such as steroids and immunosuppressive therapy used to treat AID can induce severe SCD complications
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