Investigation of the Natural History, Genetics, and Pathophysiology of Systemic Juvenile Idiopathic Arthritis, Adult-Onset Still's Disease and Related Inflammatory Conditions
Background: Inflammatory conditions can cause symptoms like fevers, arthritis, and rash. Systemic juvenile idiopathic arthritis (sJIA) is one of these conditions. So is adult-onset Still s disease (AOSD). Their causes are unknown. Researchers want to learn more about these conditions. This includes genetic changes and environmental factors.
Objective: To study sJIA and AOSD in children and adults over time.
Eligibility: People with known or suspected sJIA, AOSD, or similar inflammatory condition
Design: Participants will be screened with a phone call. Participants will have 1 visit. It may be outpatient or they may be admitted to the clinic. The visit may last up to 5 days. Participants will have: * Medical history * Physical exam * Musculoskeletal exam * Questions about overall health and quality of life, disease activity, functional status, and cognitive ability. Participants may also have: * Pictures taken of their skin, joints, or spine * Blood, urine, and stool tests * Scans or X-rays of joints with arthritis * Chest X-ray * Heart tests * Skin biopsy. The skin will be numbed. The top layers of a small area will be scraped off. Participants who have a joint aspiration may provide a fluid sample. The joint will be prepared, then fluid is removed by needle. A corticosteroid may be injected. Participants who have a bone marrow biopsy may provide sample cells. Participants may be seen by NIH specialists. Members of the participant s family and healthy volunteers may give blood or saliva samples for genetic testing. Participants may repeat some study tests every 6 months.
⁃ Subjects with known or suspected sJIA, AOSD or a similar inflammatory phenotype will provide informed consent and then be evaluated either in the outpatient or inpatient unit of the NIH Clinical Center. To be eligible for follow-up visits patients must meet the Inclusion Criteria, but not the Exclusion Criteria. Subjects determined to not have known or suspected sJIA or AOSD, or a related
⁃ inflammatory phenotype, will not be followed.
⁃ Patients with signs and symptoms of sJIA will be classified as outlined in #1, #2 and #3 below:
• Patients less than 16 years of age will be considered to have sJIA if they meet the ILAR criteria for sJIA.
• Patients 16 years of age and older will be considered to have sJIA if they have previously met ILAR criteria for sJIA.
• Family members of individuals included under items 1 and 2.
• Controls for clinical, cellular, molecular, and biochemical assays, and genetic evaluation will be enrolled. Individuals who undergo phlebotomy specifically to provide a control specimen will include both pediatric and adult patients and will not be pregnant.
⁃ Patients with signs and symptoms of AOSD will be classified as outlined in #1, #2 and #3 below:
• Patients 16 years of age and older will be considered to have AOSD if they meet the Yamaguchi criteria for AOSD (including a negative ANA and RF).
• Patients may be considered to have a diagnosis of AOSD if they met criteria for diagnosis in the past but do not still have present evidence of disease.
• Family members of individuals included under items 1 and 2.
• Controls for clinical, cellular, molecular, and biochemical assays, and genetic evaluation will be enrolled. Individuals who undergo phlebotomy specifically to provide a control specimen will include both pediatric and adult patients and will not be pregnant.
⁃ Patients with suspected sJIA, AOSD or a related inflammatory condition, as indicated by the presence of episodic fever and/or arthritis, may also be included.