What is COPA Syndrome?
What is COPA Syndrome?
COPA syndrome is an inherited disorder caused by mutations in the coatomer subunit alpha gene, known as COPA. The disorder usually appears early in childhood, and is usually characterized by a combination of severe lung disease and arthritis. If someone suffers from a combination of these symptoms, they may want to consider being tested for COPA.
The childhood syndrome was only recently discovered when Houston pulmonologists shared research and connected the dots with a team of scientists at the University of California in San Francisco. Their research was published in the April 20th, 2015 online edition of Nature Genetics.
Common complaints of onset in symptoms include difficulty breathing or joint pains due to arthritis. Patients with COPA usually develop respiratory issues such as bleeding in the lungs or pulmonary hemorrhage or inflammation and scarring in the lungs know as interstitial lung disease (ILD). All patients with the COPA syndrome seem to eventually develop interstitial lung disease and arthritis over time.
What causes the COPA syndrome?
COPA syndrome is caused by mutations in the COPA gene. The gene is inherited and seems to run in families. This gene mutation causes faulty protein trafficking and results in a condition of “cellular stress”. It is that stress that causes an autoimmune reaction which results in a person’s own immune system mistakenly attacking healthy cells. It is still unclear exactly why mutations in the COPA gene cause the disorder although scientists are working hard to figure it out, with hope that they can develop drug therapies.
What other signs or symptoms do patients with the COPA syndrome have?
Most patients tend to develop symptoms while they are very young, even in their infancy. The symptoms include lung hemorrhage, arthritis, kidney disease, and rashes. Patients with COPA have been found to have only one of the above symptoms but many will appear with two or more of them. Many individuals that have tested positive for the inherited mutation of the COPA gene have had to have transplants when they develop advanced lung or kidney disease.
How is the COPA syndrome treated?
Patients are usually treated with medications that suppress the immune system known as immunosuppressive drugs, such as prednisone, rituximab or mycophenolate. It is important to note that research on the syndrome is in the early stages and therefore scientist and doctors are still learning which treatments work best but one goal of this foundation is to identify more patients so that more history and data can be compiled and shared.
If you suffer from COPA Syndrome or think you need to be tested you should talk with your doctor and share the link to this website.
What kinds of medical tests can a patient with COPA syndrome expect in the course of diagnosis and treatment?
- Blood tests: blood may be drawn to check for autoantibodies. Autoantibodies in patients include anti-neutrophil cytoplasmic antibodies (ANCA) such as anti-myeloperoxidase (MPO) or anti-proteinase 3 (PR3) antibodies, and anti-nuclear antibodies (ANA). 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 and determine progression of lung disease.
- Pulmonary function tests – breathing tests that 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 lung tissue samples. The samples collected can include lung fluid and tissues to check for infections, the presence of bleeding and the types of immune cells.
- Genetic testing – COPA syndrome is inherited and even early studies show that it runs in families. If you are diagnosed with COPA syndrome you should check with your doctor about genetic testing. You may be referred to a genetic counselor, or your doctor may want to discuss the case with one of the medical research labs studying the disorder.
What types of doctors treat the COPA syndrome?
It will depend on the types of symptoms a person develops, but commonly a COPA patient will need to seek treatment from rheumatologist, pulmonologist and/or a nephrologist. Due to the complexity of COPA Syndrome and the variance in the degree and type of symptoms, it is often beneficial to establish a relationship with doctors with a variety of specialties that work in conjunction with each other to develop a comprehensive and holistic treatment plan.