Hemoglobinopathies

Presentation and History
Steven is a 21-year-old young man with sickle cell disease (SCD)-SC. He is here today to see you for routine follow-up. He has historically been seen every 6 months for routine maintenance and was not having frequent vaso-occlusive crises (VOC) until recently. He has presented to the emergency department 3 times in the past 2 months with a painful crisis. His most recent episode was 5 days ago, and he has just been tapered off of oxycodone.

Steven is feeling better today except for a new complaint of recurrent abdominal pain. He has recently started a job in a warehouse, moving boxes.

He is only taking ibuprofen now as needed for his sickle cell pain, which is in his back and legs. His hemoglobin level is stable at 12 g/dL with a reticulocyte count of 5%. His absolute neutrophil count and platelet levels are within normal range. A routine chem 14 was normal except for an elevated bilirubin level of 2.3.

Differential Diagnosis
Patients with SCD-SC often have more benign clinical courses throughout childhood but experience more pain and complications as they mature into adults. Due to the increased pain, they begin to require more narcotics. Based on Steven’s history, the differential diagnosis for abdominal pain includes VOC, narcotic-induced constipation, and gallstones. Patients with SCD can have splenic sequestration into adulthood, which can be uncomfortable; in Steven's case, however, that can be ruled out because his hemoglobin level is at baseline.

History and Physical
Steven’s physical exam is unremarkable except for his abdomen, which is soft but slightly tender with no hepatosplenomegaly. He denies early satiety with meals. He reports that he is having bowel movements daily; while he did have some constipation after his first crisis, that was resolved with MiraLAX. During his last 2 ED visits, Steven was placed on a bowel regimen, which he followed. More careful questioning reveals that the pain occurs after meals. Though the pain is diffuse, it tends to be in the right upper quadrant. He admits to having eaten a lot of fast food recently, since starting his new job.

Final Diagnosis and Treatment
Steven was diagnosed with gallstones based on his history; the diagnosis was confirmed by abdominal ultrasound. He was counseled to avoid fatty foods while waiting for his consult with surgery. He ultimately had a successful laparoscopic cholecystectomy.

Final Thoughts
Sickle cell disease is complicated, with multiple causes of pain. It is important to consider all possible underlying causes rather than simply assuming that a patient's pain is always caused by VOC. Constipation is common in patients treated with narcotics (opioids) who are not placed on an appropriate bowel regimen. Gallstones are more common in patients with SCD-SS but can occur in any type of SCD due to the higher rate of hemolysis. Symptoms include pain after fatty meals in the right upper quadrant, sometimes accompanied by nausea and vomiting.¹ Cholecystectomy is indicated due to risk of infection and inflammation of the gallbladder. Gallstones can also lead to bile duct obstruction and acute pancreatitis.

Reference

1. National Heart, Lung, and Blood Institute. Evidence-based management of sickle cell disease. Expert panel report, 2014.