Why Awareness Isn't Enough for IgG4-Related Disease

Rare Disease Day shines a spotlight on conditions that often go unrecognized, but for patients living with IgG4-related disease (IgG4-RD), awareness alone is not enough. Delays in diagnosis, difficulty accessing specialized testing and insurance barriers to treatment can significantly impact outcomes.

In this conversation with The Educated Patient, Parastoo Fazeli, M.D., associate professor of medicine at the University of Minnesota, director of the Lupus Clinic and Rheumatology Fellowship Program, and a member of the Alliance for Patient Access, explains why timely diagnosis and access to expert care are critical for patients with IgG4-related disease.

Rare Disease Day raises awareness each year. From your perspective, why isn’t awareness alone enough for patients with IgG4-related disease?

Parastoo Fazeli, M.D.: Awareness is important, but we still face major access challenges both in diagnosis and treatment. Many providers were never trained to recognize IgG4-related disease, and because it is so heterogeneous, it can present very differently from patient to patient. It can affect the pancreas, glands, kidneys, retroperitoneum and even the brain. No two patients look the same. That makes education and access to proper testing absolutely critical.

Why are diagnostic delays still so common, even when symptoms are severe?

PF: IgG4-related disease only recently received its own diagnostic code in 2023. Many physicians were never taught about it in medical school or residency. If a provider doesn’t think about the diagnosis, it won’t be tested. I recently saw a hospitalized patient who was very sick and had been admitted multiple times. It was a fellow who recognized a pattern and suggested checking IgG4 levels. Once diagnosed and treated, the patient improved dramatically. That shows how important awareness among clinicians really is.

Once a patient is diagnosed, what insurance barriers do they face?

PF: PET scans are extremely helpful for identifying organ involvement and monitoring response to therapy, but insurers often only approve them for cancer. That creates delays. We now have a U.S. Food and Drug Administration-approved treatment for IgG4-related disease, which is a major advancement, but it is expensive and often requires prior authorization. Even when coverage is possible, the approval process can take time.

What happens to patients during these delays? Why is time so critical?

PF: Many patients remain on long-term systemic steroids while waiting for testing and treatment approval. Steroids are effective in the short term, but they are the worst long-term drug. Extended use increases the risk of osteoporosis, diabetes, high blood pressure, infections, cataracts and cardiovascular events. Some of these complications are not reversible. The goal is to transition patients to targeted therapies as quickly as possible to minimize steroid exposure.

If Rare Disease Day focused on one access issue this year, what should it be?

PF: Access to expert evaluation. Many patients live in rural or underserved areas without access to specialists familiar with IgG4-related disease. We need systems, whether telehealth consultations, expert chart reviews or referral networks, that allow community providers to quickly connect with specialists. Earlier expert involvement can shorten delays, reduce unnecessary hospitalizations and improve outcomes.

This interview was edited for clarity.