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What

Wegener’s granulomatosis is a destructive disease of small and medium-sized arteries throughout the body. The disease causes the arteries and veins to become inflamed. In this weakened state, granulomas (tiny scar-like nodules of tissue) can form along the blood vessels and impair the ability of the blood vessels to bring blood to different parts of the body. The entire respiratory tract (nose, sinuses, throat and lung) and kidney are the main parts of the body affected, but other areas can be involved as well.

Who

Wegener’s granulomatosis can affect anyone at any age, but it is much more common in adults. When it does occur in children, the numbers are about 3 in every 100,000 children, most of whom are adolescents. The disease affects boys and girls equally and seems to be more common in Caucasians

Signs and Symptoms

Children with Wegener’s granulomatosis can present with many different symptoms. Early on, nonspecific findings such as fever, decreased energy, muscle or joint pain, and weight loss are common. Many children develop a constant runny nose (like allergies) that can have some blood mixed in it. As the disease progresses further, involvement of the respiratory system can produce cough (sometimes with blood), congestion, sinus infections, or shortness of breath. Sometimes the sinuses have too much fluid in them and it backs up into the ears, causing decreased hearing. As the kidney becomes involved, protein and blood can be found in the urine, though this is usually only visible on a urine test. Involvement of the eye can cause lesions on the surface of the eye or inflammation of the anterior (front) part of the eye. Nervous system involvement can cause a loss of sensation in some skin areas, though children are unlikely to have nervous system problems. Purple nodules or ulcers can also be found on the skin.

Possible Causes

Health experts currently do not know the cause of Wegener’s granulomatosis. Because the first symptoms of the disease are different for everyone, it is unlikely that there is just one thing responsible for the disease. There is currently a lot of research investigating the causes of Wegener’s granulomatosis.

Diagnosis

Diagnosis can be made by taking a small piece of tissue (biopsy) from the kidney or respiratory tract and examining it under a microscope for signs of inflammation (vasculitis) or necrotizing granulomas. A blood test looking for anti-PR3 ANCA can also help make the diagnosis when done in conjunction with the biopsy. Although another antibody test (p-ANCA) can sometimes be positive in patients with Wegener’s granulomatosis, it can also be positive in other vasculitic disorders and is therefore not a specific test to diagnose Wegener’s granulomatosis. Because Wegener’s is a vasculitic disorder, laboratory values associated with inflammation are usually elevated. After a diagnosis is made, a high-resolution CT scan of the chest should be done to look for bleeding or damage in the lungs that might cause symptoms in the future. Your child should also see an ophthalmologist (eye doctor) to look for signs of disease in the eye.

Treatment

If your child has a diagnosis of Wegener’s granulomatosis, medical care is best directed by a pediatric rheumatologist, especially one who has managed other children with the disorder. Because Wegener’s can involve the entire body, the rheumatologist may ask other pediatric specialists to become involved in your child’s care. Medical treatment usually consists of steroids in combination with other drugs called cyclophosphamide or methotrexate. Though these medications have side effects when used on a long-term basis, the damage that can be done by Wegener’s granulomatosis can be much worse, so on balance, the medications are worth using. The side effects include affecting children’s growth and weakening the bones, making children at risk for osteoporosis when they become older adults. There is a small risk of infertility with cyclophosphamide as well. Some individuals may be required to remain on these medications for the rest of their lives.

Prognosis

Wegener’s granulomatosis involves different areas for everyone, so the disease course will be different for everyone. Some children have disease that comes and goes, while others may have disease that persists and requires daily medication. Complications can include infections in the nose or lung, bleeding in the lungs, or kidney failure. Before steroids and immunomodulators like cyclophosphamide were used, the disease was frequently fatal. Treatment with these medications has improved the outcome greatly.

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

Wegener's Granulomatosis
A well organized site dedicated to providing information and support to all those affected by the disease. There is also information on ongoing research.

Wegener's Granulomatosis
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
This website provides disease information, medication overview and contact information for ongoing clinical trials.

Google Search for Wegener's Granulomatosis

References and Sources

Sharma, Sat. Wegener granulomatosis. emedicine article 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