The early diagnosis of children with Gaucher disease eligible for enzyme replacement therapy (ERT) helps decrease the incidence of severe complications and allows patients to have improved development, according to a new study from Spain.
Researchers say that in Spain, efforts toward early diagnosis have decreased the mean age at diagnosis in childhood from 9 to 5.7 years old over the last 21 years.
The study, titled “Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease,” was published in the Orphanet Journal of Rare Diseases.
Patients treated with ERT receive copies of functional acid β-glucosidase, the protein which is affected in Gaucher disease. Several countries have adopted programs for the early screening of pediatric patients to avoid the development of complications associated with the disease.
“In Spain, ERT has been available since 1993 and 386 patients have been included in the Spanish Registry of Gaucher Disease (SpRGD),” researchers wrote. “The aim of this study is to analyze the impact of ERT on the characteristics at time of diagnosis and initial complications in pediatric Gaucher disease patients.”
Researchers reviewed the medical records of the SpRGD patients diagnosed before the age of 18 for 98 pediatric patients. Of these, 45 were diagnosed in 1994 or before, and 53 were diagnosed after that.
The analysis revealed that the mean age at diagnosis was earlier in patients diagnosed after 1995. Age at diagnosis was also different between disease subtypes: patients with type 1 GD (80 patients) had a mean age of 8.2 years old, while patients diagnosed with type 3 GD (18 patients) had a mean age of 2.8 years old.
Importantly, there were more severe patients diagnosed before 1994. These patients had worse declines in blood cell counts, a higher risk of developing bone vascular complications at diagnosis, and of having had their spleen removed.
The median time after diagnosis at which patients started ERT was 5.2 years among those diagnosed in or before 1994, and 1.6 years among those diagnosed in or after 1995.
“Probably an early diagnosis suggests a more aggressive behavior of the disease; in our experience … only 34.0% of children with GD were diagnosed after 10 years, and 38.1% were diagnosed before 5 years, an important improvement compared to the international experience,” researchers wrote.
“When these data are analyzed regarding the availability or not of therapy, after 1994, 75% of diagnosed patients were below 10 years of age and 53.8% below 5 years of age, a clear improvement compared to the international experience,” they added.
“Physicians need to be careful and recognize patients with less severe manifestation in order to initiate therapy early and avoid the disease complications,” researchers wrote. “These changes are related with the increased awareness of physicians and the efforts made to diagnose patients after ERT became available.”