How 20 years of searching for a diagnosis finally led to IgG4-RD
The breakthrough came when my rheumatologist attended a medical conference
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My first symptoms of immunoglobulin G4-related disease (IgG4-RD) appeared around 1990 as intermittent eyelid swelling. At the time, I assumed it was an allergy, because the symptoms began the same day my boyfriend and I brought home a rescued cat. Initially, the swelling happened for about two weeks every six months, and I’d use ice packs to reduce it.
Over time, though, the disease became more aggressive. The intervals between flares gradually shortened from every six months to every three months, then every two months, and eventually every three weeks. The duration of each flare also increased from two weeks to as long as three-and-a-half weeks.
The swelling often affected one eyelid first, and then the other. Although I generally avoided over-the-counter medications, I did try ibuprofen, Claritin, and Benadryl in an attempt to control the symptoms. When the flares became more frequent, my doctor suspected a bacterial infection and prescribed amoxicillin. Unfortunately, nothing provided lasting relief.
An endlessly frustrating process
Because the eyelid swelling was unusual and difficult to explain, to increase the likelihood of finding answers, I consulted a wide range of specialists. Each specialist ordered a battery of tests. Due to the intermittent nature of my symptoms, limited knowledge of the disease at the time, and the lengthy process of seeing multiple specialists, obtaining a diagnosis took nearly 20 years.
The diagnostic process was often frustrating. Referrals, especially to specialists, typically involved waits of two to three months. After each consultation, additional appointments were needed to schedule testing. Once the tests were completed, there was another delay before meeting with the specialist to review the results. If the findings were negative, more tests were often ordered and the cycle began again.
Over the years, I was repeatedly tested for thyroid disease, lupus, herpes, Graves’ disease, Hashimoto’s disease, and Sjögren’s disease. Doctors expanded their investigations to include allergies, cancer, Epstein-Barr virus, Lyme disease, HIV, and shingles. I underwent multiple MRIs and CT scans involving my eyes, thyroid, brain, kidneys, and liver. Despite extensive testing, none of the physicians I consulted could determine the cause of my symptoms.
The breakthrough finally came via my rheumatologist, who had been treating me for seven years without being able to identify a diagnosis. She had attended a medical conference where a patient case involving IgG4-RD was presented, with symptoms that were nearly identical to mine. She immediately ordered me to be tested. The results revealed that my IgG4 level was over 600 mg/dL, when a normal level is about 140 mg/dL.
A biopsy of my lacrimal gland was performed to solidify the diagnosis, but unfortunately, the tissue sample was damaged, rendering the results inconclusive. That was a significant disappointment after such a long search for answers. But despite the damaged sample, after more than 20 years, I was officially diagnosed with IgG4-RD in 2015 and began treatment with rituximab.
More recently, I learned about a new diagnostic method that improves the accuracy of IgG4-RD diagnosis. There are also emerging AI technologies that may help shorten the time to diagnosis for future patients. It is encouraging to see increased awareness, research, and medical focus on this rare disease.
Living for decades with unexplained symptoms while consulting numerous specialists was unsettling and often discouraging. Receiving an official diagnosis and beginning treatment brought an enormous sense of relief. Even today, however, new symptoms continue to emerge.
For example, I have experienced chronic hives for the past two years. Despite seeing three dermatologists and trying various topical treatments and prescription medications, the underlying cause remains unclear. Even treatment with rituximab in the past and my current Uplizna (inebilizumab) infusions have not eliminated the hives and rash.
Doctors have also discovered cysts in my lungs. I’m currently undergoing testing for cancer and a possible connection to my IgG4-RD diagnosis. This will be another process of consultation, testing, and follow-ups. Currently, the thoracic specialist and my rheumatologists don’t think it’s related. I’m not convinced, though, as I’ve seen several posts in my IgG4-RD online communities discussing cysts and nodules in the lungs.
All of this disease management is complicated by the fact that there are no medical professionals to speak of on the island where I live. There’s not even a single rheumatologist here. My ongoing diagnostics and treatments require flights to Honolulu and California. I’ll continue to keep two sets of doctors: the California specialists for the latest and best medical updates and treatment, and the Honolulu specialists to prescribe drugs, tests, and other treatments locally if available.
The journey has been long and arduous, but the progress made by the medical community gives me hope. Looking back, I’m grateful for how far research and treatment have advanced, and I remain optimistic about what the future holds for people living with IgG4-RD.
Note: IgG4-RD News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of IgG4-RD News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to IgG4-RD.
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