Wegener’s disease (synonyms: Granulomatosis with polyangiitis, granulomatous polyangiitis, Wegener’s granulomatosis, and Wegener’s granulomatosis) is a chronic inflammation of the blood vessels that is comparatively rare, with an incidence of 5 to 7 per 100,000 population. Men are more commonly affected than women, with the peak age for Wegener’s disease being around age 50.
What is Wegener’s disease?
Wegener’s disease is an inflammatory disease of the blood vessels associated with necrosis and manifestation of granulomas in the lower (lung) and upper respiratory tract (nasal cavity, oropharynx, middle ear) as well as in the kidneys. In the initial stage, the disease manifests itself as cold– or flu-like symptoms such as headache, joint pain, fatigue, fever and weight loss. Later, the disease becomes generalized and in most cases (about 80 percent) glomerulonephritis (inflammation of the renal corpuscles) and microaneurysms develop in the kidneys. The chronic vasculitis (inflammation of the vessels) characteristic of Wegener’s disease leads to deficient blood supply and perfusion of the affected organs, and in principle all organ systems may be affected.
Causes
The cause or etiology of Wegener’s disease is unknown to date. It is suspected that the disease is due to a dysregulation of the immune system, which synthesizes antibodies (c-ANCA) against the body’s own blood cells as a result of this disorder. The specific triggers for the dysregulation have not yet been clarified. An involvement of inhalation allergens leading to a hypersensitivity reaction of the immune system (allergic reaction) is discussed. Likewise, bacterial infections of the nasal mucosa with Staphylococcus aureus and a possible genetic disposition (predisposition) are assumed to be potential trigger factors. In addition, Wegener’s disease may be associated with alpha-1 antitripsin deficiency (genetic disorder of protein metabolism) in some cases.
Symptoms, complaints, and signs
Wegener’s disease can affect various organ systems and cause a variety of symptoms. At the beginning of the disease, the focus is usually on complaints in the ear, nose, and throat area: chronic rhinitis with blood admixtures, frequent nosebleeds, and ulcers of the oral mucosa are characteristic. If the granuloma spreads to the paranasal sinuses, the result is an inflammation associated with pain in the forehead and jaw area. Involvement of the ears is noticeable by severe ear pain, with occasional attacks of vertigo. Signs of changes in the throat may include dysphagia, hoarseness, and a dry irritating cough; when spreading to the lungs, hemoptysis and massive shortness of breath with acute risk of suffocation may occur. Severe respiratory pain in the chest area may indicate pleurisy or pericarditis. Many patients suffer from eye inflammation and visual disturbances, particularly in the initial phase of the disease; as the disease progresses, kidney involvement can trigger high blood pressure. If there is blood in the urine, an inflammation of the renal corpuscles (glomerulonephritis) should be considered. Other possible symptoms of Wegener’s disease are painful, pressure-sensitive swellings in the joints (especially in the extremities) as well as paraesthesia and numbness in the toes and fingers. Skin hemorrhages and small skin ulcers also occur, and whole areas of skin may die as the disease progresses. Accompanying symptoms often include nonspecific complaints such as fatigue, lassitude, loss of appetite, and weight loss.
Diagnosis and progression
Wegener’s disease is suspected when two of the so-called four ACR criteria (oronasal inflammation, pathologic radiographic chest, pathologic urine sediment, granulomatous inflammation) can be confirmed clinically. The diagnosis is confirmed by a biopsy with subsequent histological examination, in the course of which necrotizing and partially granulomatous vasculitides of the smaller blood vessels can be detected in Wegener’s disease. A blood test also reveals elevated CRP and creatinine levels (renal insufficiency) as well as leukocytosis as a marker for chronic inflammation and an accelerated erythrocyte sedimentation rate.In the presence of glomerulonephritis, c-ANCA (anti-neutrophil cytoplasmic antibodies) in the serum and erythrocyturia (blood in the urine) are also detectable. Radiography reveals shadowing in the paranasal sinuses and infiltrated lung tissue, while CT (computed tomography) reveals granulomas, scars, and caverns (pathologically conspicuous cavities). Differentially, Wegener’s disease should be differentiated from bronchial carcinoma and Goodpasture’s syndrome. If left untreated, Wegener’s disease has an unfavorable prognosis with a fatal outcome. In contrast, improvement of symptoms can be achieved in the majority of cases (90 percent) with therapy, although the risk of recurrence is very high.
Complications
As a result of this disease, most patients usually experience a significant reduction in life expectancy. The symptoms of this disease can vary widely and may not always be characteristic, so that in many cases early diagnosis and treatment are not possible. Those affected suffer primarily from coughs and colds and appear tired or fatigued. There is also a severe reduction in the patient’s ability to cope with stress and inflammation of the nose or ears. These inflammations can significantly reduce the quality of life. Sometimes bronchitis occurs. Patients often also suffer from inflammation of the eyes, which can be accompanied by visual problems. Furthermore, fever and pain in the limbs occur, resulting in movement restrictions in everyday life. The quality of life is significantly reduced by Wegener’s disease. Without treatment, it can also lead to renal insufficiency, which can further lead to the death of the patient if left untreated. Treatment can limit most of the symptoms. However, the life expectancy of the affected person is significantly reduced and limited despite treatment. The patient is also dependent on regular checkups and may also suffer from mental illness due to the symptoms.
When should one go to the doctor?
An increased tendency to bleed is considered unusual and should be monitored further. If there is a frequent occurrence of nosebleeds or bleeding of the gums, the observations should be discussed with a physician. If sensory disturbances occur, a physician is also needed. Of concern are earaches, inflammation of the eyes, limitations in vision, impaired breathing, or an irritating cough. Changes in the act of swallowing or phonation must be presented to a physician. If respiratory distress occurs, an acute life-threatening condition exists. An ambulance should be alerted and first aid measures should be initiated to prevent premature death of the patient. Swelling of the joints, impairment of locomotion or general disturbances of mobility must be examined and treated. Inconsistencies in blood flow, unusual sensations on the skin, or loss of muscle strength should be evaluated by a physician. High blood pressure, irregularities in heart rhythm, and gait unsteadiness should be investigated. Rapid exhaustion, a decrease in usual performance, and a loss of well-being are warning signs from the body that should be discussed with a physician. Fatigue, an unwanted decrease in body weight, loss of appetite, and a refusal to eat must be presented to a physician. There is a threat of malnutrition of the organism, which can lead to an acute health-threatening situation.
Treatment and therapy
Because of the unexplained etiology, Wegener’s disease cannot be treated causally, but only symptomatically. Therapeutic measures here are aimed at curbing the dysregulated immune system and are adapted according to the stage. Thus, in an initial and locally limited stage, a drug combination therapy of cotrimoxazole, which consists of the antibiotics trimethoprim and sulfamethoxazole and is also used prophylactically against oronasal colonization with Staphylococcus aureus, and a low-dose glucocorticoid such as prednisolone is recommended.If a generalized stage with life-threatening extrarespiratory symptoms is present, high-dose prednisolone and the cytostatic drug cyclophosphamide are generally used, the latter being substituted by another cytostatic drug such as methotrexate if contraindicated. Similarly, short-term shock therapy with methylprednisolone, applied intravenously, may be indicated in cases of resistance to therapy. If remissions can be established, the cytostatic drug can be replaced by immunosuppressants such as mycophenolate or azathioprine, which are generally better tolerated, while the dose of prednisolone is gradually phased out to a permanent dosage. Renal insufficiency requiring dialysis and/or pulmonary hemorrhage are treated by plasmapheresis, in which the body’s own plasma is substituted by a solution of electrolytes and hydrogen carbonate. The choice of individual drug therapy should take into account the risk of kidney damage, which can considerably reduce life expectancy. Because of the side effects, renal function in particular should be monitored closely in the presence of Wegener’s disease.
Outlook and prognosis
If left untreated, Wegener’s disease has an extremely poor prognosis. In this case, the inflammation continues to spread and leads to permanent damage. Hearing, vision, and kidney function are particularly affected. If the kidneys are affected, death can occur within a few months due to kidney failure. Frequent inflammations in the nasal region are also reflected in a so-called saddle nose (depression of the bridge of the nose). Therapy, on the other hand, counteracts the spread of inflammation. Life expectancy and quality of life hardly change with early diagnosis and treatment. In more than 90 percent of those affected, therapy significantly reduces the symptoms, in 75 percent even to such an extent that a symptom-free life is possible, at least temporarily (complete remission). Nevertheless, in about 50 percent of those affected in remission, there is a possibility that symptoms will reappear even with successful treatment. In addition, long-term or repeated use of immunosuppressive drugs and corticosteroids (maintenance therapy) is associated with an increased risk of infections and the development of cataracts. Therefore, regular controls of the blood count as well as the eyesight are necessary. In addition, steroid-induced hair loss, acne, mouth ulcers, and weight gain are possible.
Prevention
Because the exact trigger factors and etiology of Wegener’s disease are unclear, the disease cannot currently be prevented.
Follow-up
In most cases, only very limited and very few measures of direct aftercare are available to the affected person with Wegener’s disease, so that the affected person should ideally consult a physician at a very early stage. Further complications can be prevented by early diagnosis. However, since this is a hereditary disease, it cannot usually be completely cured, so the affected person is always dependent on a doctor. Especially in the case of an existing desire to have children, genetic testing and counseling is advisable in order to prevent a recurrence of Wegener’s disease. During the treatment itself, patients are in most cases dependent on taking various medications that can alleviate and limit the symptoms. The doctor’s instructions should always be followed, and attention should also be paid to the correct dosage. Those affected are also dependent on regular checks and examinations of the internal organs, whereby the kidneys in particular should be checked. The further course of the disease depends very much on the time of diagnosis, so that a general prediction cannot usually be made. In some cases, Wegener’s disease reduces the life expectancy of the affected person.
What you can do yourself
This disease can be very stressful for those affected, especially if Wegener’s disease was diagnosed late. Although all symptoms of the disease can be treated, patients’ quality of life is usually severely limited. For many patients and their relatives, it is therefore advisable to seek psychotherapeutic treatment in addition to the medically necessary therapies in order to take the edge off the suffering.Contacts to the regionally frequent Wegener’s disease self-help groups, which can be found on the Internet, are also helpful. Alternatively, sufferers can also contact the vasculitis self-help group (www.vaskulitis-shg.de), which deals with all rare autoimmune diseases that lead to chronic vascular inflammation. The links and tips listed there can make everyday life much easier for those suffering from Wegener’s disease. They also benefit from relaxation techniques of any kind, because they also work against the fatigue and feelings of exhaustion from which patients suffer more. Yoga, Jacobson’s Progressive Muscle Relaxation, Qigong and Tai Chi are all recommended. But the new, alternative forms of therapy such as music therapy, laughter yoga or the tapping therapy EFT should also be tried once, because they have also already proven to be a relief for the Morbus Wegener sufferers.
