Rare autoimmune disorder caused a woman's nose to collapse

A CT scan of a woman's head shows an arrow pointing to a large hole in her septum
A rare autoimmune disorder caused a large hole to form in a woman's septum, as indicated by the white arrow on this computed tomography (CT) scan. (Image credit: The New England Journal of Medicine ©2021)

A rare autoimmune disorder decimated the cartilage and bone in a woman's nose, causing her nose to collapse and sink into her face.

When the 34-year-old woman checked into a facial plastic surgery clinic, her nasal bride had completely collapsed, causing the tip of her nose to retract, according to a report published April 5 in The New England Journal of Medicine (NEJM). The deformity had emerged over the course of seven years.

The woman had a variety of related symptoms, including persistent inflammation in her nasal cavity and the lining of her sinuses, a condition called "chronic rhinosinusitis," and she also had fleshy growths in her nasal cavity known as "polyps." A thin mucus leaked from her nose and dried, bloody mucus had crusted over the inside of her nasal passages.

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A physical examination revealed a "near-total loss" of the woman's nasal bones, located on either side of the bridge, and severe degradation of her septal cartilage. In addition, a computed tomography (CT) scan showed a large hole had formed in the septum.

To probe the cause of the rampant inflammation, the doctors ran a test to identify antibodies circulating in the woman's blood. They found high levels of antibodies that target proteinase 3 (PR3), a protein found in certain white blood cells, according to the Mayo Clinic Laboratories. Antibodies that target PR3 are a type of autoantibody, meaning they attack healthy human cells, and they can trigger inflammation in blood vessels and cause organ damage, most often to the kidneys, lungs and respiratory tract.

Based on the presence of PR3 antibodies in the woman, the doctor diagnosed her with "granulomatosis with polyangiitis," or GPA. Nearly all people with GPA carry these autoantibodies, according to Mayo Clinic. 

That said, "the exact role these autoantibodies play in the development of granulomatosis with polyangiitis is not fully understood," according to the National Organization for Rare Disorders (NORD). One possibility is that these antibodies may latch onto white blood cells that bear PR3 and somehow cause them to malfunction and damage healthy tissues.

"Estimates of the frequency of granulomatosis with polyangiitis vary greatly depending upon the specific population being studied," and often, the disorder goes unrecognized by doctors, according to NORD. Because of this, it's difficult to estimate how many people develop the disorder each year, but it's considered very rare.

GPA can emerge slowly over many months or set in quickly, over a matter of days, according to NORD. Symptoms vary greatly from person to person but can impact organs all over the body. For instance, severe cases can lead to hearing loss, vision loss, kidney failure or cranial nerve damage, if left untreated. The autoimmune disorder can also cause a persistent runny nose, nasal crusting, sinus inflammation and perforations — holes — in the septum, as seen in the affected woman.

To treat the woman's GPA, her doctors prescribed rituximab, an antibody treatment that targets immune cells called B cells in order to dial down the body's malfunctioning immune response, according to Drugs.com. The patient also received low-dose cyclophosphamide, another immunosuppressant, and prednisone, a corticosteroid that also tamps down immune activity. 

"At a follow-up visit 6 months later, the patient’s bloody nasal discharge and crusting had resolved," according to the NEJM report. "The nasal deformity is unchanged." The patient continues to receive rituximab, but the report did not note whether she'll undergo surgery for her sunken nose.

Originally published on Live Science. 

Nicoletta Lanese
Channel Editor, Health

Nicoletta Lanese is the health channel editor at Live Science and was previously a news editor and staff writer at the site. She holds a graduate certificate in science communication from UC Santa Cruz and degrees in neuroscience and dance from the University of Florida. Her work has appeared in The Scientist, Science News, the Mercury News, Mongabay and Stanford Medicine Magazine, among other outlets. Based in NYC, she also remains heavily involved in dance and performs in local choreographers' work.