- A rare autoimmune disorder, which often goes unrecognised, caused a young woman's nasal bridge to collapse
- The disorder progressed over a number of years
- According to the doctors who authored the report, the infection is being resolved
A rare autoimmune disorder destroyed the cartilage and bone in a 34-year-old woman's nose, leading her nose to collapse and sink into her face.
The patient is described in a report published in the April issue of The New England Journal of Medicine (NEJM). When she checked into the facial plastic surgery clinic, her nasal bridged had entirely collapsed and she had a retracted nasal tip. She presented with “rhinorrhea, bloody nasal crusting, and nasal deformity”, doctors from the Massachusetts General Hospital, Boston, wrote.
According to their report, the deformity had progressed over a period of seven years.
The patient also had a variety of related symptoms. These included persistent inflammation in her nasal cavity and the lining of her sinuses. They referred to this as "chronic rhinosinusitis". Fleshy growths, known as polyps, were found in her nasal cavity. Bloody mucus had also become crusted on the inside of her nasal passages.
Autoantibodies attacking healthy cells
After conducting a physical examination, the doctors found a "near-total loss" of the patient’s nasal bones. Her septal cartilage was also heavily degraded. A computed tomography (CT) scan showed that a large hole had formed in the septum.
The doctors wanted to determine the cause of the rampant inflammation. They, therefore, carried out a test to identify antibodies circulating in her blood, leading to the discovery of high levels of antibodies that target proteinase 3 (PR3). PR3 is a protein found in certain white blood cells, explains the Mayo Clinic Laboratories.
Unfortunately, there are autoantibodies produced by the body’s immune system that mistakenly target PR3 – in other words, they attack healthy human cells, triggering inflammation in blood vessels. They can also cause organ damage, most notably to the lungs, kidneys, and respiratory tract.
Because the doctors found PR3 antibodies, the woman was diagnosed with "granulomatosis with polyangiitis" (GPA) – a rare disorder with an unknown cause, explains the Cleveland Clinic. GPA causes inflammation of the blood vessels in one’s nose, sinuses, throat, lungs and kidneys. Formerly known as Wegener's granulomatosis, the condition is one of a group of blood vessel disorders called vasculitis.
Estimating the frequency of GPA depends on the specific population, notes the National Organization for Rare Disorders (NORD). The disorder also often goes unrecognised by doctors, making it challenging to estimate the true number of people living with this disorder. It can develop over a long period of time, or can happen in a period of just a few days, the organisation explains.
The patient’s GPA was treated with an antibody treatment called rituximab. She also received low-dose cyclophosphamide, an immunosuppressant, and prednisone, a corticosteroid that also drives down immune activity.
"At a follow-up visit six months later, the patient’s bloody nasal discharge and crusting had resolved," the doctors reported, adding that her nasal deformity was unfortunately unchanged. Treatment via rituximab is continuing, although no mention was made regarding whether she would receive surgery to restore her collapsed nose.