Most rheumatologists view Down syndrome-associated arthritis as synonymous with JIA
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In a survey of adult and pediatric rheumatologists, 73% reported that they view Down syndrome-associated arthritis as the same disease as juvenile idiopathic arthritis, with 94% stating they use NSAIDs as treatment, according to findings published in Pediatric Rheumatology.
“Traditionally, those with Down syndrome-associated arthritis have been approached similarly to patients with juvenile idiopathic arthritis, however, there is emerging evidence that [Down syndrome-associated arthritis (DA)] maybe different than JIA,” Jordan T. Jones, DO, MS, of Children’s Mercy Kansas City, in Missouri, told Healio Rheumatology. “Therapies for JIA have been used to treat DA with mixed results due to medication effectiveness and toxicity, but it’s unclear what most providers are using or their approach to treat DA.”
“This is the first study to describe provider perspectives on diagnostic and treatment approach of DA,” he added. “We needed a baseline to know what and how providers were diagnosing and treating those with DA because it was unknown.”
To analyze current practices among pediatric rheumatologists, including diagnosis and treatment, regarding Down syndrome-associated arthritis, Jones and colleagues surveyed a group of providers using an online survey. Developed using the REDcap platform, the 12-item questionnaire included sections on demographics, assessment and evaluation, and treatment regarding inflammatory arthritis in Down syndrome. It used branching logic to ask providers if they were aware of Down syndrome-associated arthritis, how many patients they have cared for with the condition, and how they diagnosed and treated it.
Participants included adult and pediatric rheumatologists, as well as fellows-in-training and nurse practitioners specialized in pediatric or adult rheumatology. The researchers received a total of 89 unique responses. Among the respondents, 94% were pediatric rheumatologists, with combined adult and pediatric rheumatology providers making up the remainder. Four of the responses came from fellows-in-training, and one was from a nurse practitioner. Among all participants, 55% reported having more than 10 years of experience.
According to the researchers, 64% of respondents said they currently care for one to three patients with Down syndrome-associated arthritis. In addition, 73% viewed Down syndrome-associated arthritis and JIA as synonymous, and 63% said they use a combination of history, exams and imaging to diagnosis the condition. The most used tests were complete blood count, which had been ordered by 97% of participants, and erythrocyte sedimentation rate, ordered by 96%. The most common treatments were NSAIDS and methotrexate, which was reported by 91% of respondents, followed by anti-TNF therapy, reported by 90%.
“Methotrexate and anti-TNF agents are commonly used for DA despite the fact that children with Down syndrome are at increased risk for toxicity with methotrexate and ineffectiveness with anti-TNF agents,” Jones said. “It was interesting there was no alteration of therapy to take into account the increased risk for medication toxicity and ineffectiveness in those with DA.”
Regarding the use of methotrexate, 84% reported administering the drug subcutaneously, with 56% stating they use a dose of 15 mg/m2. Just 19% of participants said they prescribed corticosteroids for Down syndrome-associated arthritis.
“We now know that the vast majority of pediatric rheumatologists view DA and JIA as the same and their approach is similar to each disease,” Jones said. “We also have a baseline for providers approach to diagnosis and treatment in those with DA. It’s hard to determine optimal screening and therapeutic approach for those with DA without knowing where we’re starting. We need to educate providers on the differences between DA and JIA, and focus on the specific needs and distinct characteristics of those with DA to optimize screening and therapeutic approach.”
Perspective
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David A. McLain, MD, FACP, FACR
Studies that expand our knowledge of the various manifestations of arthritis are always welcome. Over the years, these have included classics like Moll and Wright’s classification of psoriatic arthritis or one of the many papers in Seminars in Arthritis and Rheumatism describing the arthritic manifestations of a disease or syndrome.
This paper is a real-world survey of rheumatologists, mostly pediatric rheumatologists, with their experience with Down Syndrome-associated arthritis. Down Syndrome (DS) or trisomy 21 has an increased incidence of autoinflammatory, autoimmune and oncologic conditions that lead to increased morbidity and mortality. These include leukemia, thyroid disease, type I diabetes mellitus, celiac disease and arthritis.
Inflammatory arthritis was first described in 1984 and, more recently, has been termed Down Syndrome-associated arthritis (DA). This is not a common condition as there are 8.7 cases per 1000 DS children and, with an estimated U.S. DS population of 350,000, that would give us a total of 3000 U.S. cases. Indeed, in this survey, 20% of respondents had not seen a case and most had seen only 1-3 cases.
In the American Academy of Pediatrics’ policy statement “Health Supervision of Children with Down Syndrome” which is used by physicians to help guide screening in patients with DS, there is no mention of surveillance for arthritis. Besides DA, DS patients have connective tissue and neurologic abnormalities such as hypotonia, atlantoaxial instability, ligamentous laxity and pes planus.
DA is a polyarticular, seronegative, erosive disease that affects primarily the small joints of the hands and wrists. The etiology of this arthritis is suggested by studies that show trisomy 21 promotes pro-inflammatory cytokines and T cell dysregulation, which results in immune dysregulation and chronic autoinflammation, both of which could drive autoimmunity in DS.
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