Rheumatology Commons^™

Barriers To The Diagnosis, Care, And Management Of Pediatric Patients With Ehlers-Danlos Syndrome In The United States: A Qualitative Analysis., William R. Black, Lora L. Black, Jordan T. Jones

Manuscripts, Articles, Book Chapters and Other Papers

Objectives: Ehlers-Danlos Syndromes (EDS) are a family of heritable connective tissue diseases. Primary practitioners are capable of diagnosing and managing EDS; however, few are knowledgeable and comfortable enough to see patients with EDS, resulting in delays in diagnosis and care. This study explores the barriers physicians experience with diagnosing, managing, and caring for patients with EDS, and potential resolutions to those barriers. Methods: As part of a larger online study, providers (n = 107) in the United States were asked to specify "What information would improve (their) comfort" in diagnosing, caring for, and managing EDS via open-ended questions. Results …

Autoimmune Encephalitis Of Unknown Etiology, Elizabeth Cook, Giselle Ricoy

Research Colloquium

Encephalitis is the inflammation of the brain which can come about through various etiologies. Autoimmune encephalitis is a rare form that is most common among women and children. The clinical presentation can vary between patients with a constellation of symptoms including deficits in memory, cognition, seizures, abnormal movement, psychosis, and coma. Because of the variation in clinical presentation and the lack of specificity in imaging and laboratory findings, diagnosis and intervention are often delayed for months to years. These delays in diagnosis can have long term ramifications on patients especially pediatric patients whose neural pathways are still developing. In pediatric …

Bone Marrow Transplant For Macrophage Activation Syndrome In Systemic Juvenile Idiopathic Arthritis, Shailly Gaur, Michael J. Holland, J Allyson Hays, Ibrahim A. Ahmed

Research Days

Background

The recognition of macrophage-activation-syndrome (MAS) in the setting of systemic-juvenileidiopathic-arthritis (sJIA) is complex, but a necessary distinction given emerging treatment options. With overlapping clinical manifestations including fever, end-organ involvement and lymphadenopathy, there is a focus on laboratory values to differentiate MAS from a sJIA flare. Once parameters are met, multiple treatment modalities can be considered, as monotherapy or in combination, including steroids, immunosuppression, chemotherapy, intravenous immunoglobulin, and cytokine-directed biologics. Given the long-term morbidity and mortality associated with progressive inflammation and immune dysregulation due to MAS with sJIA, it is imperative to regain control over this complication. However, these treatments …

Bone Marrow Transplant For Macrophage Activation Syndrome In Systemic Juvenile Idiopathic Arthritis​, Shailly Gaur, Michael J. Holland, J Allyson Hays, Ibrahim A. Ahmed

Posters

7yo w/ systemic juvenile idiopathic arthritis who developed macrophage activation syndrome and interstitial lung disease non-responsive to steroids, immunosuppression, and directed biologics with significant adverse reactions who required chemotherapy and eventual bone marrow transplant leading to complete resolution of symptoms.

An Iceberg I Can’T Handle: A Qualitative Inquiry On Perceptions Towards Paediatric Rheumatology Among Healthcare Workers In Kenya, Angela Migowa, Sasha Bernatsky, Anthony Ngugi, Helen E. Foster, Peter Muriuki, Adelaide Lusambili, Stanley Luchters

Paediatrics and Child Health, East Africa

Background: Delay in diagnosis and access to specialist care is a major problem for many children and young people with rheumatic disease in sub-Saharan Africa. Most children with symptoms of rheumatic disease present to nonspecialists for care. There is an urgent need to understand and scale-up paediatric rheumatology knowledge and skills amongst non-specialist healthcare workers to promote early diagnosis, prompt referral, and management.

Purpose: We evaluated the knowledge, attitudes and practices towards diagnosis and care of paediatric rheumatology patients among health care workers in Kenya.

Methods: We conducted 12 focus group discussions with clinical officers (third-tier community health …