Sickle Cell Lung Disease in a 9-year-Old Presenting with Wheezing: Investigating Causal Relationships, Asthma or Acute Chest Syndrome

Abstract

Background: Sickle cell disease (SCD) affects about 7.7 million people worldwide, and this has been increasing annually due to an increasing population in sub-Saharan Africa and the Caribbean. Pulmonary complications contribute significantly to mortality due to sickle cell disease. We have frequently heard wheezing in children with sickle cell disease that has responded to beta agonists such as salbutamol leading us to wonder whether this was asthma or a presentation of acute chest syndrome. We present this case to highlight the co-occurrence of sickle cell disease and asthma, and to re-ignite the debate on the whether this is coincidental or causal. Case Presentation: We present a 9-year-old male from Ugandan, with no known history of any chronic illness who presented with a one-day history of abdominal, limb, and chest pain. He had associated yellowing of eyes, palpitations, and difficulty in breathing. The patient had had a long-standing history of difficulty in breathing, worse during the night and cold seasons, relieved by taking prednisolone tablets that were bought over the counter. On examination, he was sick looking, in mild respiratory distress, with moderate pallor and severe jaundice. Investigation showed a low hemoglobin (6.6g/dl) and immunoglobulin E (IgE) levels were 2300 IU/mL (normal range 0.1 to 200 IU/mL). Hemoglobin electrophoresis showed predominantly sickled hemoglobin (HbSS) (71%), and low fetal hemoglobin (HbF) (8.3%). Spirometry showed an increase of forced expiratory volume after bronchodilator therapy of 22.8%. We made a diagnosis of sickle cell disease and asthma and managed the patient using oxygen, fluid therapy, analgesia, salbutamol by nebulization, hydroxyurea, folate, ceftriaxone and a blood transfusion. For the long-term management, we initiated him on hydroxyurea 20.8mg/kg/day, folate, and fansidar. We also prescribed budesonide and formeterol and are in the process of linking him to a regional referral hospital for chronic care. Conclusion: We present a case of a 9-year-old newly diagnosed with sickle cell disease and asthma highlighting that both conditions can occur in the same individual. We diagnosed both during the same visit and cannot comment on what manifested first. Our findings reinforce the importance of objective pulmonary function testing and allergic evaluation when assessing wheezing in children with SCD. Keywords: sickle cell anemia, sickle cell lung disease, asthma, pulmonology, spirometry