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 reported to the facial plastic surgery clinic, her nasal bride completely collapsed, causing her top nos to withdraw, according to a report published on April 5 in New England Journal of Medicine (NEJM). The deformity appeared over seven years.
The woman had a number of related symptoms, including permanent ones inflammation in the nasal cavity and sinus mucosa, a condition called “chronic rhinosinusitis,” and it also had fleshy growths in the nasal cavity known as “polyps”. Thin mucus leaked from her nose and dried, bloody mucus moistened the inside of her nasal passages.
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Physical examination revealed “almost complete loss” of the woman’s nose bones, located on both sides of the bridge, and severe degradation of its septal cartilage. In addition, computed tomography (CT) showed that a large hole had formed in the septum.
To investigate the cause of the widespread inflammation, doctors conducted a test to identify it antibodies circulating in a woman’s blood. They found high levels of antibodies targeting proteinase 3 (PR3), a protein found in certain white blood cells, according to the Mayo Clinic Laboratory. PR3-targeting antibodies are a type of autoantibody, meaning they attack healthy human cells and can cause inflammation blood vessels and cause organ damage, most commonly on kidneys,, lungs and respiratory tract.
Based on the presence of antibodies to PR3 in the woman, the doctor diagnosed her with “granulomatosis with polyangiitis” or GPA. Almost all people with GPA carry these autoantibodies, according to the 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 can attach to white blood cells that carry PR3 and somehow cause them to malfunction and damage healthy tissues.
“Estimates of the incidence of granulomatosis with polyangiitis vary widely depending on the particular population being studied,” and often NARD disorders are not recognized by physicians. This makes it difficult to estimate how many people develop the disorder each year, but it is considered very rare.
According to NORD, GPA can appear slowly over many months or set up quickly, in a matter of days. Symptoms vary greatly from person to person, but can affect organs throughout the body. For example, severe cases can lead to hearing loss, vision loss, kidney failure, or cranial nerve damage if left untreated. An autoimmune disorder can also cause persistent runny nose, nasal crust, sinusitis and perforations – holes – in the septum, as seen in an affected woman.
To treat a female GPA, her doctors prescribed rituximab, a treatment with antibodies that target an immune cell called a B cell to remove the body’s defective immune response, according to Drugs.com. The patient also received low doses of cyclophosphamide, another immunosuppressant, and prednisone, and corticosteroid which also suppresses immune activity.
“During a follow-up visit 6 months later, the patient’s bloody nasal discharge and crust were resolved,” the NEJM report said. “The deformity of the nose is unchanged.” The patient was still receiving rituximab, but the report did not say whether she would undergo a nose job.
Originally posted on Live Science.