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What
Wegener's granulomatosis (WG) is a disease of small and medium-sized blood vessels throughout the body. In this disorder, the affected individual's arteries and veins become damaged leading to the formation of granulomas (contained regions of inflammation) along the blood vessels. This process impairs the ability for these vessels to bring required nutrients to different parts of the body. The entire respiratory tract (nose, sinuses, throat, and lung) and kidney are the most commonly affected sites, but other areas (including the central nervous system, skin, and salivary glands) can be involved as well.
Who
WG is a rare disease with an overall frequency of 0.4 cases per 100,000 people. WG can affect anyone at any age, thus it is included as a pediatric rare disease, although it is more commonly seen in adults in their 40's and 50's. Males are affected slightly more often than females. It has been described in all ethnicities, but is rare in African-Americans.
Signs and Symptoms
The main organs involved in WG are the upper respiratory tract, lungs, and kidneys; however other systems can be affected as well. Early on, children may have only non-specific symptoms like fever, decreased energy, and weight loss. As the disease progresses, however, the symptoms become more specific depending on the tissues involved. Inflammation in the ears, nose, and throat may cause scar tissue and obstruction in the nose, pain in the face, hearing loss, voice changes, and/or difficulty breathing. Inflammation in the lungs may cause cough (with or without bloody phlegm), difficult breathing, or even lung failure. Inflammation in the kidneys may cause blood or protein in the urine (usually microscopic and not visible to the human eye) as well as body swelling. Inflammation in the nerves can cause tingling and numbness or decreased eye movement (however, this is rare in children). Inflammation in the skin can cause a reddish-purple rash. Inflammation in the joints can cause pain and swelling. Inflammation in the eyes can cause pain, ulceration, and displacement of the eye.
Possible Causes
The cause of WG is still poorly understood. Researchers know that the symptoms of the disease come from damage to blood vessels in the affected areas, caused by local inflammation. However, the factor responsible for this agent is not known; limited evidence suggests that infections or allergies may set off the inflammation. Research has described antibodies (proteins vital to the function of the immune system) that have been closely linked to WG. These antibodies are cytoplasmic-staining and peri-nuclear-staining anti-neutrophilic cytoplasmic antibodies (C-ANCA and P-ANCA). These antibodies may bind to cells in the lungs and kidneys, misguiding the immune system to attack them as if they were a dangerous infection. However, this is only a small piece of a complicated puzzle, and more research needs to be done to understand this disease.
Diagnosis
During the work-up for WG, patients will have many blood tests, urine tests, and x-rays done. Some even have analysis of cerebrospinal fluid (CSF), the liquid that surrounds the brain. For people with neurologic symptoms, doctors may order nerve conduction studies and electromyography (EMG) to investigate how the nerves and muscles work. These tests are used to collect different pieces of data which, when put together, will help decide if the likelihood of WG is high or low. The diagnosis of WG, however, is based on a biopsy of affected tissue, a surgical procedure by which a small piece of tissue is taken from the body for analysis under a microscope. Usually, the first step is to biopsy the upper airway (most often the nose) to search for WG. If this biopsy is negative, doctors may choose to biopsy the kidney. If this biopsy is negative or inconclusive, a lung or nerve biopsy may also be considered. Lung biopsies can be done either with a camera through a small incision site or a larger, more complex open procedure. If a biopsy is positive, patients should have a computerized tomography (CT) scan of that area and a CT of the chest will also look for bleeding and damage in the lungs. Patients should also be seen by an eye doctor to look for disease in the eye.
Treatment
WG is a complicated disease that affects many organ systems, so treatment often requires the involvement of multiple specialists, including rheumatologists, pulmonologists, nephrologists, and ear-nose-throat doctors. Treatment is determined by the extent and severity of symptoms. The main treatment used for WG is steroids and cytotoxic agents (medications that kills cells). All cytotoxic medications have side effects which must be discussed in detail with the treating physician. Treatment of WG can be divided into three categories: treating the initial disease, preventing the disease from recurring, and treating the disease if it recurs. The most common cytotoxic medication given is cyclophosphamide, which is 90% effective in treating the initial disease. Most people will then receive treatment for a year after symptoms resolve to prevent the recurrence of disease. Other cytotoxic medications used include azithioprine and methotrexate. 20-46% of people will have recurrence of disease within the first year of stopping medication. During treatment, patients will need to have regular visits with the doctor as well as blood tests to evaluate for disease before symptoms develop. Research is still being conducted on the length of treatment needed as well as alternative therapies. Newer medications like rituximab have shown promising results, but more studies need to be completed before doctors will feel comfortable using them routinely.
Because of disease progression, people may have scarring of tissue in their airways. This can result in damage of the nose, middle ear, windpipe (trachea), and lung passageways (bronchi) which require surgery. Other people may have severe kidney problems requiring regular dialysis (procedure by which machines perform the kidney's duties by filtering harmful substances from the body) or even transplantation. Those who have neurologic involvement of their disease may require regular tests with Magnetic Resonance Imaging (MRI) to test for worsening disease.
While being treated for WG, a person's immune system will be weakened, and he or she will be at increased risk for infections. Therefore, patients may benefit from taking antibiotics to prevent dangerous infections, especially in the lung. Cytotoxic medications may also increase the risk of developing cancer, including leukemia, lymphoma, and bladder cancer. Finally, these medications can affect growth and bone development in children, and may cause a small number to become infertile. It is important to discuss the risks and benefits of each medication with your physician.
Prognosis
WG is different for each individual; some people have disease that comes and goes, while others may have disease that persists. If untreated, individuals with WG fare very poorly. However, with aggressive treatment, their lifespan and their quality of life improve. Most people with WG (up to 86%) will experience some permanent complications of their disease. The most common complications of this disease and its treatment are kidney problems, heart failure, hearing loss, infections in the nose or lungs, nose deformities, and bleeding into the lungs. Some individuals also develop cancer as a result of the treatment for WG. Hopefully, new medications and treatments will be developed with future research to continue improving the quality of life for people with WG.
Connect with other parents
In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.Weblinks
Connect with other parents
In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.
Weblinks
http://www.vasculitisfoundation.org/
A well organized site dedicated to providing information and support to all those affected by the disease. There is also information on ongoing research.
http://www.angelfire.com/ga/wegeners/
A description of Wegener's by someone with the disease, medication synopsis, support groups and a message board. There are also links to other useful sites.
National Institute of Allergies and Infectious Diseases
http://www3.niaid.nih.gov/topics/wegeners/
This website provides disease information, medication overview and contact information for ongoing clinical trials.
Google Search for Wegener's Granulomatosis
References and Sources
http://www.emedicine.com/NEURO/topic396.htm
http://www.emedicine.com/med/TOPIC2401.HTM
Miller ML, Pachman LM. (2000). Chapter 167 Vasculitis Syndromes. In: Behrman RE, Kliegman RE, Jenson HB (eds): Nelson Textbook of Pediatrics 16th ed WB Saunders, p 731-2