E34 Coexisting sickle cell disease and autoimmune diseases among Nigerian children

Abstract

Abstract Introduction Patients with sickle cell disease (SCD) do have a defective activation of the alternate complement pathway which increases their risk of having infections. This is thought to predispose to autoimmune disease (AID) in them. However, there is paucity of data on coexisting AID and SCD in children which may be due to under diagnosis as a result of overlapping symptoms of the two disease conditions. Objectives To highlight the clinical features, diagnostic challenge and importance of early recognition and treatment of autoimmune diseases in children with sickle cell disease. Methods Retrospective review of records of four children with sickle cell disease who were diagnosed with autoimmune diseases at the paediatric Rheumatology Clinic of Lagos State University Teaching Hospital (LASUTH) between May 2018 to February 2023. Results Case 1 15 –year –old girl known haemoglobin SC patient of haematology unit who was referred to rheumatology unit with history of worsening jaundice, abdominal swelling, headache, constitutional symptoms, left knee pain, and two episodes of blood transfusion within two months. Initally being managed for hyperhaemolytic and vaso-occlusive crisis but later referred to rheumatology unit on suspicion of autoimmune disease due to recurrent anaemia, and five episodes of blood transfusion within two months. ESR was 65 mm/h, ANA of 1:2560, positive anti-smith antibodies, elevated urine protein creatinine ratio (UPCR), low C3 and C4 and positive direct coomb’s test. Diagnosis was juvenile systemic lupus erythematosus (JSLE). She had pulse methylprednisolone, oral prednisolone, hydroxychloroquine and mycophenolate mofetil. She has improved clinically and being followed up in clinic. Case 2 10-year-old girl, known sickle cell anaemia patient who had unproductive cough of one-month duration and chest radiograph findings of bronchiectatic and fibrotic changes in the right upper/middle lobes with reduction in lung volume. Gene xpert was negative for tuberculosis but chest CT showed honeycombing in the right upper lobe implying Interstitial lung disease. Further investigations showed ESR of 5, ANA of 1:1280, borderline anti-dsDNA, positive anti-SM/RNP, normal urinalysis, normal renal function and restrictive lung disease on spirometry. She is being managed as a case connective tissue disorder with associated Interstitial Lung Disease. She is presently on mycophenolate mofetil and being followed up in clinic. Case 3 11-year-old female living with sickle cell anaemia who presented with inflammatory arthritis of the small joints of the hands, elbows and knees of nine-month duration, sclerodactyly, contractures of the PIP of the fingers, narrowing of oral aperture, generalized hypopigmented macules and abnormal nailfold capillaroscopy. ANA was 1:640, positive anti-Scl 70, negative anti-centromere, ESR of 130 mm/h, thrombocytosis, severe restriction on spirometry and features of interstitial lung disease on HRCT of the chest. She commenced mycophenolate mofetil, prednisolone and nifedipine. She later had 2 doses of rituximab due to slow clinical improvement and is being followed up. Case 4 13-year-old female with sickle cell anaemia who presented with recurrent fever & severe haemolytic anaemia requiring frequent blood transfusions (13 pints of blood over 6 months!!!). Initial diagnosis was septicaemia, and autoimmune haemolytic anaemia. Following rheumatology review, ANA was 1:640, positive anti-DsDNA, negative anti-Smith antibodies, ESR of > 150mm/h, elevated UPCR and pancytopaenia. She was later diagnosed with Lupus nephritis. She had Mycophenolate mofetil, prednisolone and hydroxychloroquine. She died of acute lupus flare 4 weeks after discharge from the hospital. Conclusions Physicians should have high index of suspicion for possible association of sickle-cell disease and autoimmune diseases so as not to delay definitive diagnosis and initiation of appropriate treatment.