NORD’s Rare Disease Video Library provides brief stories from patients, parents and caregivers about living with a rare disease.
Granulomatosis with polyangiitis (GPA) is a rare disorder characterized by inflammation of small- and medium-sized blood vessels (vasculitis) that results in damage to various organ systems of the body, most often the respiratory tract and kidneys. Symptoms may include ulcerations of the mucous membranes in the nose with secondary bacterial infection, a persistent runny nose, sinus pain, and chronic middle ear infection (otitis media) potentially resulting in hearing loss. In some individuals, kidney abnormalities may progress to kidney failure, a serious complication that requires dialysis or a kidney transplant. If the lungs are affected, a cough, coughing up of blood (hemoptysis), and inflammation of the thin membrane lining the outside of the lungs and the tissues inside of the lung may be present. Other symptoms can occur depending on which organ systems are affected in an individual.
Granulomatosis with polyangiitis is not an inherited disorder. It is classified as an autoimmune disorder. Autoimmune disorders occur when the body’s immune system mistakenly attacks healthy tissue. Environmental, infectious and some genetic factors may play a role in the development of the disorder, including cigarette smoking. The disorder can occur at any age, but most often affects people between 40 and 60 years of age. For many years, granulomatosis with polyangiitis was known as Wegener’s granulomatosis or Wegener granulomatosis. Wegener is the surname of a physician who was one of the first to describe the disorder in detail in the medical literature back in the 1930s. Other doctors before Wegener also described the disease. Surnames don’t characterize diseases and terms which better describe diseases are generally preferred. Granulomatosis with polyangiitis is classified as a form of vasculitis, and further classified as a form of antineutrophil cytoplasmic antibodies-associated (ANCA-associated) vasculitis or ANCA-associated vasculitides (AAV).