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The saddle-sunken nose was once associated mainly with congenital syphilis. Currently, this deformity of the nose is much more often observed in another life-threatening disease. 90% of untreated patients die within two years of onset of symptoms. The treatment itself is difficult and time-consuming, and its success is uncertain.
Wegener’s granulomatosis is a type of systemic vasculitis. Inflammation mainly affects the small and medium-sized blood vessels of the upper and lower respiratory tract and the kidneys. It results from abnormal stimulation of the immune system, in which autoantibodies directed against granules present inside neutrophils, i.e. white blood cells (the so-called ANCA-type antibodies) play a key – although as yet incomprehensible role – play a key role. Over-stimulation of the immune system leads to the production of tissue-damaging granulomas, which are a cluster of activated cells of the immune system (mainly transformed macrophages, neutrophils and lymphocytes).
The causes of the disease and the mechanisms responsible for the production of autoantibodies remain unknown, therefore the infectious, genetic and environmental hypotheses of disease occurrence are still being investigated, and the combination of all these factors seems to be the most likely, which initiates the general inflammatory process. Wegener’s granulomatosis is one of the few autoimmune diseases that men suffer from slightly more often. The disease can appear at any age, but the peak incidence is observed in middle-aged people. It is a rare disease, affecting 5-10 per million people annually in Europe.
The essence of the disease is the inflammation of blood vessels, which causes their necrosis, damage and, consequently, improper blood supply to the organs supplied by these vessels. It is a systemic disease, which means that in addition to the symptoms resulting from damage to the most frequently involved organs, non-specific general symptoms may also appear, such as fever, weakness, joint and muscle pain, decreased appetite, anemia.
The most characteristic, occurring in about 70 percent of patients, is the involvement of the vessels of the upper and lower respiratory tract. It can result in chronic sinusitis which does not respond to treatment and leads to destruction of the bones of the skull. Patients often complain of headaches. Damage to the nose is also characteristic, causing the appearance of a bloody, sometimes purulent runny nose, while the destruction of the nasal septum and cartilage causes deformation of the nose contour – the so-called saddle nose. Inflammation often affects the structures of the middle ear and can lead to deafness. Lung involvement, which eventually occurs in up to 90% of patients, may remain asymptomatic, but is much more likely to cause coughing, often accompanied by haemoptysis, dyspnoea, and, if massive alveolar bleeding occurs, may lead to severe respiratory failure and a state of immediate threat to the patient’s life.
Another organ that is damaged even in 70% of patients is the kidneys. In the course of the disease, the so-called glomerulonephritis. Its intensity varies, sometimes it does not cause significant disturbances and is manifested only by abnormalities found in the urine sediment. In the most severe cases, rapidly progressive glomerulonephritis develops, resulting in worsening of their failure, often leading to permanent kidney damage and the need for dialysis of patients.
Wegener’s granulomatosis may take a limited form, in which the involvement of blood vessels in the respiratory tract and kidneys does not pose a threat to the life of patients and does not lead to serious impairment of their functions. However, in severe generalized forms of the disease, lung and kidney involvement may be a direct threat to the patient’s life, which may be accompanied by symptoms of vascular involvement in virtually all parts of the body.
If the cutaneous vessels are affected, a very characteristic rash known as raised purpura develops. It mainly affects the lower limbs – although it can also appear elsewhere – and takes the form of raised, reddened, often merging spots, caused by damage to the skin vessels and blood extravasation. Sometimes they necrosis, causing ulcers that are difficult to heal. In the course of Wegener’s granulomatosis, the eyes may also be affected with exophthalmos, inflammation of the eyeball and optic nerve, which in about 5 percent of patients ends in blindness. As a result of the involvement of the central nervous system, which is a late symptom of the disease, neurological symptoms may appear, resulting from damage to the cranial nerves, stroke, and even intracerebral bleeding. Gastrointestinal vasculitis may manifest as bloody diarrhea and abdominal discomfort.
The diagnosis of the disease requires a number of laboratory tests (including the determination of ANCA type antibodies) and imaging tests (X-ray of the lungs, computed tomography of the chest), as well as other invasive procedures (bronchoscopy). Sometimes it is also necessary to examine a sample taken from the organ affected by the disease (biopsy of the skin, kidneys, lungs, histopathological examination of tissues removed from the paranasal sinuses). In severely ill patients requiring immediate treatment, the diagnosis of the disease is made on the basis of very characteristic symptoms and the results of immunological tests.
Wegener’s granulomatosis in untreated patients leads to death within 5 months on average. Even in the 70s, before the introduction of cyclophosphamide – an immunosuppressive drug suppressing abnormal activity of the immune system – to treatment, almost all patients died within two years of diagnosis. Currently, the treatment of the disease and its aggressiveness depends on the severity of the disease, but the basic drugs are glucocorticosteroids in combination with cyclophosphamide. Thanks to this procedure, it is possible to achieve relief from the symptoms of the disease in about 90% of patients. Patients who go into remission, but often remain severely mutilated for the rest of their lives, develop blindness, deafness, and may require lifelong treatment with hemodialysis. Unfortunately, the disease also shows a tendency to relapse, most often occurring about a year after the end of immunosuppressive treatment. Therefore, patients with Wegener’s granulomatosis, even after the end of treatment, require constant medical supervision. If the paranasal sinuses are involved, the patients undergo surgical laryngological procedures. Rapidly progressive kidney damage may require the use of the so-called plasmapheresis (treatments for cleansing the blood of circulating antibodies), and when renal failure occurs, these patients require hemodialysis. In addition to cyclophosphamide and glucocorticosteroids, other immunosuppressive drugs are also used depending on the response to treatment. Due to the high toxicity of cyclophosphamide and its numerous side effects, research is ongoing looking for other, safer drugs for the treatment of Wegener’s granulomatosis (so-called biological drugs). The 10-year survival rate in Wegener’s granulomatosis with currently available treatments is approximately 80%.
Text: lek. Paulina Jurek
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