Treatment
Lastly, patients diagnosed with COPA syndrome tend to be treatment resistant such that most patients with COPA syndrome have tried and failed four or more medications. A number of COPA syndrome patients have progressed to lung or kidney transplant, or needed joint replacements for severe arthritis.
A diagnosis of COPA syndrome may point to additional treatment options. Dr. Vogel’s group and collaborators, including rheumatology fellow Leigh Anna Stubbs, MD, MPH, presented an abstract at ACR Convergence 2020 indicating that rituximab may be a good option for these patients.3
Other rheumatologists have noted the interferon signature of patients with COPA syndrome and treated them with a Janus kinase 1/2 inhibitor. One case report of a 15-year-old girl found this approach stabilized disease for months.4
A Growing Concern
COPA syndrome is currently considered a rare disease, but Dr. Vogel believes that as rheumatologists better understand the presentation of COPA syndrome, the diagnoses will increase and its status as an ultra-rare disease may change.
As an ultra-rare disease, COPA syndrome suffers from the curse of most rare diseases: low patient numbers and a lack of diagnosis that leaves studies underpowered. Because of this, most rare diseases enter the medical literature as case studies or case series—reports that, according to Dr. Vogel, most rheumatology journals don’t consider. She remains determined to spread the word about COPA syndrome, stating, “We have to get these one-off stories out there so other clinicians know what to do.”
Absent a clear path to publication in rheumatology journals, she anticipates more COPA syndrome cases will be published in clinical immunology journals, which are more likely to embrace rare cases. However, Dr. Vogel stresses that COPA syndrome patients will be treated in rheumatology clinics, so rheumatologists need to be aware of these rare patients.
Difficulty recognizing rare disease can lead to an interesting question: Is COPA syndrome “a genetic mimic of rheumatic disease” as it is labeled in the scientific session, or is it a rare rheumatic disease, one that has not yet been fully recognized by the rheumatologic community? Perhaps it is a matter of perspective.
Dr. Vogel believes that “COPA mutations cause COPA syndrome, which can look like lupus, vasculitis or rheumatoid arthritis with interstitial lung disease.”
Lara C. Pullen, PhD, is a medical writer based in the Chicago area.
COPA Syndrome Presents in 3 Typical Scenarios
- A young patient (including toddlers) with early onset of pulmonary hemorrhage;
- A teenager with interstitial lung disease whose family history includes individuals with rheumatoid arthritis; and
- A family of individuals with vasculitis.
References
- Cabrera-Pérez JS, Branch J, Reyes A, et al. A zebra at the rodeo: Dyspnea, hematuria, and a family history of arthritis. Arthritis Care Res (Hoboken). 2020 Jun 29. Online ahead of print.
- Frémond M-L, Crow YJ. STING-mediated lung inflammation and beyond. J Clin Immunol. 2021 Apr;41(3)501–514.
- Stubbs L, Osuna I, Bigley T, et al. Use of rituximab to treat COPA syndrome: A multi-institutional cohort [abstract 1166]. Arthritis Rheumatol. 2020 Oct;72(suppl 10).
- S Krutzke, C Rietschel, Gerd Horneff. Baricitinib in therapy of COPA syndrome in a 15-year-old girl. Eur J Rheumatol. 2019 Aug 20;7(Suppl 1):1–4.
