When the 34-year-old entered the plastic surgery clinic of the face, the bridge of the nose (the upper bony part) 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 deformation appeared over a period of seven years.
The woman had a variety of related symptoms, including persistent inflammation in the nasal cavity and the lining of the sinuses, a condition called “chronic sinusitis,” and had a fleshy growth in the nasal cavity known as “polyps,” mucus leakage. Thin her nose, which dries up crusted, bloody mucus over the inside of her nasal passages.
The examination revealed an “almost complete loss” of the woman’s nasal bones on both sides of the bridge, and severe deterioration of the septal cartilage. In addition, a computerized tomography (CT) scan showed a large septal perforation.
To investigate the cause of the outbreak, doctors performed a test to determine the antibodies circulating in the woman’s blood. They found high levels of antibodies that target proteinase 3 (PR3), a protein found in some white blood cells, according to Mayo Clinic Laboratories. Antibodies that target PR3 are a type of autoantibody, which means that they attack healthy human cells, and can cause inflammation in blood vessels and organ damage, often affecting the kidneys, lungs and respiratory system.
Based on the patient’s presence of antibodies to PR3, the doctor diagnosed her with a “granuloma with vasculitis,” or GPA. And nearly all people with GPA carry these antibodies, according to the Mayo Clinic.
However, “the exact role these antibodies play in the development of granulomas with vasculitis is not fully understood,” according to the National Organization for Rare Disorders (NORD). One possibility is that these antibodies may attach to the white blood cells that carry PR3, and somehow cause malfunction and damage to healthy tissues.
According to NORD, “Estimates of the frequency of granuloma with vasculitis vary greatly depending on the specific population being studied,” and clinicians often do not recognize this disorder. For this reason, it is difficult to estimate how many people develop the disorder each year, but it is considered very rare.
The GPA can appear slowly over several months or start quickly, over days, according to NORD. Symptoms vary widely from person to person, but they 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 a runny nose, peeling nose, sinusitis, and holes in the septum, as it appears in an affected woman.
For GPA treatment, doctors prescribed rituximab, an antibody treatment that targets immune cells called B cells, in order to reduce the body’s disrupted immune response, according to Drugs.com. The patient also received a low dose of cyclophosphamide, another immunosuppressant, and prednisone, a corticosteroid that also suppresses immune activity.
At a follow-up visit after 6 months, the patient’s nasal secretions and scales were resolved, according to the NEJM report.
The nasal deformity did not change, and the patient was still receiving rituximab, but the report did not say whether she would have surgery for her recessed nose.
Source: Live Science