Sickle cell disease and systematic lupus erythematous association in a 14-year-old adolescent female

Abstract

Background Sickle cell anaemia is caused by an autosomal recessive single gene defect in the beta chain of haemoglobin (HbA), which results in production of sickle cell haemoglobin (HbS).1 Sickle cell trait occurs when HbS is inherited from one parent along with normal HbA from the other (e.g., HbSB-thal or HbSC).1 Sickle cell anaemia is associated with various degrees of anaemia, red cell haemolysis, and obstruction of small blood capillaries causing painful crises, damage to major organs, and increased vulnerability to severe infections.2 The sickle cell anaemia and systemic lupus erythematous rarely came together.2 The reason for this co-occurrence is not known because most of the published studies are case reports.2 Only 40 similar cases have been reported in the literature over the past 50 years.1 We report the case of a patient who had sickle cell anaemia with symptoms of systemic lupus erythematous. Discussion Sickle cell disease (SCD) and systemic lupus erythematous (SLE) are categorized as chronic disease with multisystem organ involvement.4 SCD develops when haemoglobin (HbS) is produced in the body as a result of a mutation occurring in haemoglobin beta chain.5 It's a hereditable disease commonly affecting women of African American descent.5,6 SLE is defined as a rare, chronic autoimmune multi-organ manifestations.7,8 Incidence of SLE in paediatric population is 0.3-0.9 per 100.000 children and prevalence 3.3-8.8 per 100.000 children.9 SCD and SLE rarely coincide in literature due to the limited number of cases and the overlapping of symptoms of both diseases.8 Females contributed to 78 per cent of cases, while only 22 per cent were male.8 Majority affecting child bearing age, with a mean of 23-year-old.10 The combination of both diseases reduces the life span of patients.11 There are many proposals regarding the conjunction of SCD and SLE.8 Encapsulated bacteria that lead to repeated infections may be a relationship between the autoimmune disease and haemoglobin S.12-14 Articular manifestations like joint pain are common in both diseases.8 SCD patients complain of joint pain and are most often diagnosed as vaso-occlusive crisis consequently detain the diagnosis of SLE.8 In our patient, back pain was the main complaint which was dull, aching and not radiating. [...]patients who manifest both diseases are prone to cerebrovascular disease.8 Renal failure is as well a result of both SCD and SLE, with lupus nephritis recorded in 29-80 per cent of paediatrics age group.8 Patient with SLE as a single disease has a risk of 47 per cent in developing nephropathy.8 Renal biopsy is widely used due to the adverse pathological impact of SCD with the coexistence of SLE on the renal function.8 Renal biopsy was done in our patient with a result of diffuse proliferative glomerulonephritis and mesangial proliferation. SCD and SLE are known to affect the immunological system by producing anti-nuclear antibodies (ANA).18 It has been hypothesized that in SCD, autoantibodies could be induced by a chronic inflammatory state from chronic haemolysis.19 In an environment of rapid cell turnover, autoantibodies against self-components could be produced.19 Another hypothesis is that the dysfunctional immune complex of patients with this disease arising from functional hyposplenism, complement pathway defects and phagocytosis could impede clearance of immune complexes.20 Therefore when SLE is suspected in a patient with SCD, the best serologic markers appear to be SLE-specific autoantibodies such as anti-dsDNA and anti-Smith.21 Persistent hypocomplementemia also supports the presence of an immune complex-mediated disease.21 It's positive in 100 per cent of SLE patients, however it's positive in 20 per cent of SCD patients.18 Moreover, anti-dsDNA is commonly ordered to establish the diagnosis of the existence of both diseases.22 Central nervous system complications are appreciated in both SCD and SLE.11 Doppler carotid ultrasound usually reveals high viscosity in SCD patients.11 Those patients require continuous blood transfusion as part of medical management.11 However, in SLE patients, vasculitis and antiphospholipid antibodies play a role and hence oral anticoagulation and steroid are mandatory.11 Conclusion Awareness of the association of sickle cell disease with systemic lupus is needed in order to enable timely diagnosis and proper treatment.