Living with Autoimmune interstitial lung disease-arthritis syndrome
A rare genetic condition with lung disease, bleeding in the lungs, and joint inflammation, starting in infancy to adolescence.
Understanding Autoimmune interstitial lung disease-arthritis syndrome
It involves interstitial lung disease (scarring and inflammation in lung tissue), often with bleeding in the lungs, and joint inflammation. It is linked to high levels of autoantibodies. It begins from infancy to adolescence with fast breathing, cough, coughing up blood, or joint pain. Some people also develop kidney disease.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Lung disease (interstitial lung disease)
- Bleeding in the lungs
- Arthritis and joint pain
- Kidney inflammation (glomerulonephritis)
- Cough and trouble breathing
- Coughing up blood
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include autoimmune and inflammatory disease specialists, genetic specialists, kidney specialists and lung and breathing specialists.
- 3Consider genetic testing
Changes in COPA are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Children's Interstitial Lung Disease Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Genetic specialists (geneticists); Kidney specialists (nephrologists); Lung and breathing specialists (pulmonologists)
- Expert care
- Expert lists: Children's Interstitial Lung Disease Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Children's Interstitial Lung Disease Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the COPA gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: autoimmune interstitial lung, joint, and kidney disease; autoinflammation and autoimmunity, systemic, with immune dysregulation; autoinflammation and autoimmunity, systemic, with immune dysregulation 1; copa defect; copa syndrome
Patient organizations
- Children's Interstitial Lung Disease FoundationAutoimmune interstitial lung disease-arthritis syndrome · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Autoimmune interstitial lung disease-arthritis syndrome.
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