Do you have a familial autoimmune or lung disorder or symptoms of COPA syndrome? We are recruiting patients for our autoimmune/lung disease research studies. Please contact: anthony dot shum at ucsf dot edu.
COPA syndrome for patients
What is the COPA syndrome?
The COPA syndrome is an inherited disorder that is caused by mutations in the COPA gene. Patients may develop the disease at a very young age when they are infants or toddlers, although some patients show symptoms when they are older. Common complaints include difficulty breathing or joint pains. The respiratory issues may be due to bleeding in the lungs known as pulmonary hemorrhage, or inflammation and scarring in the lungs called interstitial lung disease (ILD). The joint pains are due to arthritis. All patients with the COPA syndrome appear to eventually develop interstitial lung disease and arthritis over time.
What causes the COPA syndrome?
Patients with the COPA syndrome have mutations in the COPA gene. The mutation results in the production of abnormal COPA proteins that do not function properly. It is still unclear exactly why mutations in the COPA gene cause the disorder, although scientists are working hard to figure this out. Current research suggests that the COPA syndrome is an autoimmune disorder. An autoimmune disorder occurs when your immune system mistakenly starts attacking your own healthy cells. Examples of autoimmune disorders include rheumatoid arthritis or lupus.
What other signs or symptoms do patients with the COPA syndrome have?
Some patients with the COPA syndrome develop kidney disease. Others have reported rash. We are still learning about other issues patients might have.
How is the COPA syndrome treated?
Patients are usually treated with medications that suppress the immune system known as immunosuppressive drugs. Examples of these include prednisone, rituximab or mycophenolate, although others have also been used. It is important to note that it remains unclear at this time which treatments work best. Talk with your doctor about available options.
What types of doctors treat the COPA syndrome?
A rheumatologist and a pulmonologist will usually work in conjunction to treat patients with the COPA syndrome. If there is kidney disease then a nephrologist will need to be involved.
What kinds of medical tests do patients with COPA syndrome have?
Blood tests - blood may be drawn to check for autoantibodies. Autoantibodies in patients include anti-nuclear antibodies (ANA) and anti-neutrophil cytoplasmic antibodies (ANCA) such as anti-myeloperoxidase (MPO) or anti-proteinase 3 (PR3) antibodies. Also seen less commonly are cyclic citrullinated peptide (CCP) antibodies or rheumatoid factor (RF).
Chest imaging – either a CT scan of the chest or chest x-ray (CXR) can be used to look for lung disease.
Pulmonary function tests – breathing tests assess how well the lungs are working.
Bronchoscopy exam – a procedure in which a thin tube with a camera is inserted into the lung to look at the lung tissue and to obtain samples. The samples collected usually include fluid and sometimes tissue to check for infections, the presence of bleeding and the types of immune cells.
Genetic testing – our lab performs research genetic testing for possible COPA syndrome. If you suspect that you or someone you know may have COPA syndrome, discuss your concerns with your physician and have them contact Dr. Shum (anthony dot shum at ucsf dot edu).
Links
COPA Syndrome Foundation
COPA Syndrome Foundation Facebook
COPA syndrome for physicians
Online Medelian Inheritance in Man (COPA syndrome)
Do you have a patient you think might have a COPA mutation? Someone with a familial autoimmune or lung disorder? We are enrolling COPA syndrome patients and other families with autoimmune/lung disease for our studies. Please contact: anthony dot shum at ucsf dot edu.
Press
Researchers from UCSF and Baylor win the Lee C. Howley Sr. Prize for discovery of the COPA syndrome
Childhood Syndrome Combining Lung Disease, Arthritis Is Identified
UCSF News
After years-long quest, researchers crack mystery of illness that stalked family
Houston Chronicle
COPA Genetic Mutation Identified in Lung Disease, Arthritis
The Rheumatologist
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis
Nature Genetics
