Published Online July 18, 2013
Chronic Granulomatous Disease (CGD) is a rare primary immunodeficiency that predisposes to serious bacterial and fungal infections, and inflammatory complications such as colitis. For many patients, it is a life-limiting disease, with death in early to mid-adulthood. CGD can be managed with daily prophylactic antibiotics and antifungal agents. However, patients are frequently admitted to the hospital for treatment of infections and inflammatory complications, including the need for surgery. CGD can be cured with haematopoietic stem cell transplant. This is more successful in patients with fewer complications but can lead to death in a small number of patients. CGD is normally diagnosed in young children and parents face the dilemma of choosing transplantation in an apparently well child, or continuing conservative management with the risk of developing serious infection or inflammation.
The United Kingdom is unusual for having two similar size populations of children with CGD - one group managed conservatively and one transplanted cohort. This provided a unique opportunity to look at outcomes of the two different methods of management. In The Journal of Allergy and Clinical Immunology (JACI), Cole et al evaluated morbidity and mortality in these two groups. By collecting detailed clinical data, they calculated the frequency of hospital admission with serious infection, need for surgery and admissions for any other cause. They also evaluated height and weight as indicators of inflammatory complications and general health. They compared the group managed with prophylactic antibiotics with those that had been transplanted.
Cole et al demonstrated that mortality was similar in the two groups at the end of the pediatric age range (16 years). However, the group that managed conservatively was significantly more likely to have been admitted to hospital with infections or the need for CGD-related surgery. They were also shorter than their transplanted peers. Children that had been transplanted had no serious infections and very few admissions to the hospital, demonstrating that they were healthier. These children also required no long-term medication.
It is difficult for parents to decide the best management option for their child when diagnosed with CGD. When faced with the choice of putting their child through a potentially life-threatening procedure, it is important to have information about the long term outcome, which includes future quality of life as well as survival. Cole et al have shown that children with CGD who have been transplanted are healthy and spend very little time in the hospital. This will benefit them and their family in the long-run and should prompt physicians to consider transplantation early after diagnosis.
The Journal of Allergy and Clinical Immunology (JACI) is an official scientific journal of the AAAAI, and is the most-cited journal in the field of allergy and clinical immunology.