A 15-year-old with sickle cell disease comes to your office for an initial visit. She recently was in the emergency department for an acute painful episode. She describes in tears how long she waited for pain medications and wants to know if any treatment is available to prevent future episodes. She also is sexually active and would like to learn about contraception. How do you care for her? What education do you need to give the patient and her family?
Guidance for pediatric primary care providers on the comprehensive management of sickle cell disease is provided in a revised AAP clinical report titled Health Supervision for Children and Adolescents with Sickle Cell Disease. The report, from the AAP Section on Hematology/Oncology and the American Society of Pediatric Hematology/Oncology, is available at https://doi.org/10.1542/peds.2024-066842 and will be published in the August issue of Pediatrics.
Comprehensive care
Sickle cell disease is a group of complex genetic disorders of hemoglobin. It is characterized by hemolysis, unpredictable acute complications that may become life-threatening and the variable development of chronic organ damage.
More than 98% of children born with sickle cell disease will survive to adulthood, but the median life expectancy for someone born with sickle cell anemia in the United States is the fifth decade.
The clinical report describes the pathophysiology, diagnosis, potential complications and chronic manifestations of sickle cell disease.
Also included is practical guidance on health supervision of children and adolescents with sickle cell disease, including comprehensive medical evaluation, immunizations and disease-specific treatments; psychosocial care; genetic education and counseling; and transitioning from the pediatric to adult health care system.
Tables in the report list what to cover at each health maintenance visit and education topics to discuss with patients and families from birth to age 21.
Sickle cell disease requires comprehensive care from a pediatrician and a team of sickle cell disease experts, including a hematologist, other pediatric subspecialists, advanced practice providers, nurse specialists, social workers, patient navigators and educational liaisons.
Historically, emergency visits, hospitalizations and mortality increase during young adulthood, at the same time as transfer from pediatric to adult care. The transition requires self-efficacy and advocacy on the patient’s part and open communication between pediatric and adult primary care and specialty providers.
Recommendations
The following recommendations are included throughout the report:
- To reduce racism in the medical care of children living with sickle cell disease, do not use the term “sickler.” Providers also should recognize their own biases and acknowledge that the difficulties faced by the patient and family may not be evident to them.
- Ideally, all newborns with sickle cell disease should be referred to a pediatric sickle cell center or hematologist by 3 months of age.
- All infants and children with sickle cell anemia (HbSS) and Sβ0-thalassemia should receive prophylaxis with penicillin V potassium until they are 5 years old and have completed the pneumococcal vaccine series.
- Iron supplementation should be given for anemia only if deficiency is biochemically proven.
- Families should be educated on early recognition of acute illnesses, which can become life-threatening quickly, and the importance of identifying a medical facility with round-the-clock access to knowledgeable care for sickle cell disease.
- Transcranial doppler ultrasonography screening is recommended annually from ages 2-16 years in children with HbSS and Sβ0-thalassemia due to risk of developing a stroke. Most clinics also obtain a one-time non-sedated brain MRI in school-age children to screen for silent infarcts.
- School performance should be monitored, and educational accommodations such as an individualized education program/504 plan should be provided if needed.
- Ophthalmology evaluations should be performed annually starting at age 10 years to screen for retinopathy.
- Treatment with hydroxyurea should be offered to all children with HbSS and Sβ0-thalassemia at age 9 months, even those without clinical symptoms.
- Genetic transmission of sickle cell disease should be discussed with parents of newly diagnosed infants as well as teenagers with sickle cell disease.
- Progesterone-only contraceptives are recommended for teenagers with sickle cell disease due to concerns for increased risk for thrombosis. Pregnancy is comanaged by a hematologist and high-risk obstetrician.
The pediatrician can discuss several disease-modifying treatments to prevent further episodes of pain for the patient in the vignette above. It is important to review triggers of pain, discuss management of pain at home with oral fluids, rest, heat and oral analgesics, and identify a medical facility with expertise in sickle cell disease in case home management fails. Finally, the pediatrician can recommend a progesterone-only contraceptive and discuss pregnancy in sickle cell disease as well as genetic counseling.
Dr. Aygun is a lead author of the clinical report and a member of the AAP Section on Hematology/Oncology.
