IgG4-RD causes windpipe problems in 16-year-old girl: Case report
Combination of glucocorticoids plus immunosuppressant eases narrowing
For a 16-year-old girl in Turkey, immunoglobulin G4-related disease (IgG4-RD) manifested as a narrowing of the windpipe, known as tracheal stenosis, which was marked by shortness of breath as the main problem for which she sought treatment.
The teen’s symptoms were eased, and her windpipe widened, after treatment with glucocorticoids alongside an immunosuppressant, according to a case report. The girl’s condition remained stable for nearly a year of follow-up, the researchers noted.
To provide context for this unusual symptom, the team conducted a literature review and identified 18 similar cases. Together, the scientists said, the cases highlight that “IgG4-RD should be considered in individuals with tracheal stenosis.”
Glucocorticoids, a type of anti-inflammatory medication, proved to be the primary treatment strategy in the cases published in the scientific literature. The team noted, however, that relapse rates were lower among patients who also received additional immunosuppressants.
Overall, the team concluded that “IgG4-RD should be kept in mind in the differential diagnosis of patients presenting with clinical findings of tracheal stenosis.”
The study detailing the case and the review findings, titled “Rare presentation of immunoglobulin G4-related disease as tracheal stenosis: a case report and review of the literature,” was published in the journal Clinical Rheumatology.
While scientists have not determined a cause for IgG4-RD, the condition is marked by immune cells that infiltrate one or more of the body’s organs or tissues, resulting in painless enlargements or tumor-like masses. Depending on where in the body these enlargements occur, symptoms can vary. Commonly affected areas are the pancreas, head and neck, and abdomen.
Immune cells that produce the antibody IgG4 are often part of this response. However, not all people with IgG4-RD has high levels of the antibody in their blood.
Problems involving windpipe are uncommon in IgG4-RD
Windpipe narrowing is a relatively unusual manifestation of the disease, according to the researchers, who noted that “airway involvements are rarely seen.” As such, it may complicate diagnosis and treatment. Although “glucocorticoids constitute the mainstay of treatment for IgG4-RD,” the team wrote, other therapies may be appropriate to treat this particular symptom.
Here, a team from the Gülhane Training and Research Hospital, University of Health Sciences Turkey, described the presentation, diagnosis, and treatment of a teenage girl with IgG4-RD whose main symptoms were problems with her windpipe.
The teen initially came to the hospital for shortness of breath after a surgical procedure to reshape her nose. In a physical examination, clinicians noted a whistling noise as she breathed. She also showed signs of reduced lung capacity.
Based on these symptoms, the team performed a CT scan of her neck and lungs. In the upper part of her trachea, or windpipe, the narrowest point was 6.2 mm across. For comparison, other studies have found a width of about 11 mm (0.43 inches) in healthy children of her age group.
A blood test revealed high levels of IgG4, and a sample of the girl’s trachea tissue showed signs of immune cell infiltration. Based on the findings, the clinicians diagnosed the girl with IgG4-RD. She was prescribed the glucocorticoid methylprednisolone and methotrexate, a therapy that suppresses immune system activity.
Over the following months, the girl’s windpipe reached a width of 8.5 mm, and her symptoms eased. During this time, the team reduced her corticosteroid dose.
“Currently, her clinical condition is stable,” the researchers wrote after 10 months of follow-up.
In most other cases, patients also had shortness of breath among symptoms
To contextualize this case, the researchers identified similar published cases in which IgG4-RD caused tracheal stenosis. Across these cases, the median patient age was 52, and nearly three-quarters of those treated were female.
Similar to the girl’s case, most individuals in the reports (63%) had shortness of breath as one of their initial symptoms. Cough and wheezing were also common. About half the cases, including the present case, showed no signs of IgG4-RD affecting other organs.
Glucocorticoids were the most common therapy, followed by surgical procedures to clear the airway. Five individuals received one or more nonglucocorticoid immunosuppressants in addition to another treatment strategy.
“Residual stenosis was seen in almost all patients on radiological examinations; however, all of them were clinically stable,” the researchers wrote.
We believe that our study helps to draw attention to IgG4-RD, which should be considered in patients presenting to the rheumatology clinic with tracheal stenosis [narrowing of the windpipe].
Among the cases, 11 had follow-up information: This showed that slightly more than a quarter of the patients experienced a relapse. None of these individuals was on a nonglucocorticoid immunosuppressant at the time of relapse.
The longest follow-up data were available for two patients who received rituximab (sold as Rituxan and others), an antibody-based therapy that depletes immune B-cells. Over an average treatment duration of 42 months, or 3.5 years, neither individual relapsed.
According to the researchers, this suggests that “among immunosuppressives, rituximab appears to be more effective for achieving long-term remission.”
However, given the small study size and variability in treatment protocols, future work will be needed to test this hypothesis more thoroughly, the team noted. Other potential limitations of this study involved the lack of long-term follow-up for most of the cases, the researchers said.
“Despite these shortcomings, we believe that our study helps to draw attention to IgG4-RD, which should be considered in patients presenting to the rheumatology clinic with tracheal stenosis,” the team wrote. They suggested that early glucocorticoid treatment may be a good approach for this disease manifestation, but that surgery or additional immunosuppressants could be useful in some cases.
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