Rare Autoimmune Disorder Collapsed a Woman’s Nose to Sank into Face

Autoimmune

The New England Journal of Medicine (NEJM) recently releases a report that a facial plastic surgery clinic accepted a 34-year-old female patient whose nasal bridge has completely collapsed and nose tip has retracted. This nose deformity may have emerged over the past 7 years. Also, a series of related symptoms were detected, including persistent inflammation in her nasal cavity and the lining of her sinuses and polyps.

Doctors perform a physical examination indicating her nasal bones almost totally lost or degraded, and a computed tomography (CT) scan showing a large hole formed in her septum. Such severe inflammation turned out to be a result of high levels of antibodies targeting proteinase 3 (PR3). It’s a type of autoantibodies, also known as autoimmune antibodies, meaning her nose deformity might be caused by a rare autoimmune disorder, granulomatosis with polyangiitis (GPA).

About Autoantibodies PR3

Autoantibody PR3 is one of the most common autoimmune proteins that mistakenly target and react with a person’s own tissues or organs, involving the loss of normal immune homeostasis. They might be found in certain white blood cells attacking healthy human cells, triggering inflammation in blood vessels, or causing organ damages to the kidneys, lungs, and respiratory tract.

Almost all patients having GPA carry these autoimmune antibodies. This autoimmune disorder may bring a persistent runny nose, nasal crusting, sinus inflammation, and perforations (or holes) in the septum, as the symptoms seen in the affected woman. But “the exact role of these autoantibodies in the development of GPA is not fully understood. And estimates of the frequency of GPA vary greatly depending upon the specific population being studied.” the National Organization for Rare Disorders (NORD) points out.

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Treatment

A therapeutic antibody called rituximab was prescribed by her doctor, which targets immune B cells to decrease the malfunctioning immune response in her body. What’s more, a low dose of immunosuppressant and a corticosteroid were also used to tamp down the immune activity.

This treatment may be based on the theory that autoantibodies are the most commonly used diagnostic biomarkers, of which the presence and levels can indicate not only the disease itself but also reveal the risk of progressing to clinical onset of an autoimmune disease.

Therefore, services for biomarker identification and biomarker development contribute to in vitro diagnostics industry. For instance, Creative Biolabs focuses on various types of autoimmune diseases and a wide spectrum of diagnostic biomarkers, including rheumatoid arthritis, pediatric asthma, type 1 diabetes, and inflammatory bowel disease.

Besides this rare autoimmune disorder case originally published on Live Science, some existing autoimmune disorders can also pose a risk for nose deformities, including:

  • Relapsing polychondritis
  • Sarcoidosis
  • Wegener’s granulomatosis

The affected woman with such a rare autoimmune disease ended up with resolved bloody nasal discharge and crusting after six-month treatment, though her nasal deformity remained unchanged. The report notes that the patient will continue receiving the antibody treatment, but it stays unclear if she will reserve surgery to rebuild her collapsed nose.