Wegener's granulomatosis

Wegener’s granulomatosis or midlife granulomatosis is a rare disorder which causes swelling and inflammation of blood vessels, thus hampering blood flow. The disease mainly affects the blood vessels in the nose, sinuses, ears, lungs and kidneys, although other areas may be involved.

Causes and risk factors

The cause is unknown, but Wegener’s granulomatosis is believed to be an autoimmune disorder. Arthritis occurs in about half of all people with this disease. Wegener’s granulomatosis is most common in middle-aged adults. It is very rare in children, but has been seen in infants as young as three months old.

Symptoms

The most common symptom is frequent sinusitis. Other early symptoms include a persistent fever without an obvious cause, night sweats, fatigue and feeling ill. Chronic ear infections can also occur before the diagnosis of Wegener’s granulomatosis.

Other symptoms of upper respiratory tracts include nasal bleeding, pain, and sores around the nostril. It is also common to have a loss of appetite and weight loss. Skin lesions are common, but there is no one typical lesion associated with the illness. Although not always the case, there may be symptoms of kidney disease.

The urine may be bloody, and often appears first as red or smoky urine. Many patients have eye problems that can range from mild conjunctivitis to severe swelling of the eye.

Other symptoms include:
Chest pain
Coughing up blood
Joint pain
Rashes
Difficulty in breathing
Weakness
Wheezing

Exams and Tests

Your doctor may order a blood test looking for disease-fighting proteins called antineutrophil cytoplasmic antibodies (ANCA, for its acronym in English), which is often found in people with active Wegener’s granulomatosis. However, the test is not foolproof: it can be negative in some patients.

Urinalysis is done to look for signs of kidney disease such as protein and blood in the urine. The presence of renal disease is needed to make a definitive diagnosis of Wegener’s granulomatosis. A biopsy is the only way to definitely diagnose this disease. The type of biopsy depends on which area of the body the doctor wants to examine.

Your doctor may suggest one of the following types of biopsies:
Biopsy open lung
Biopsy of the upper respiratory
Nasal mucosal biopsy
Bronchoscopy with transtracheal biopsy
Other tests may be done include:
Chest X-ray
Chest CT
Bone marrow aspiration

Treatment

Your doctor may suggest treatment with glucocorticoids (as prednisone) and a cytotoxic drug, a drug that kills cells or blocks their growth and performance. Cytotoxic medicines are often used during chemotherapy. Cytotoxic medicines used to treat Wegener’s granulomatosis include:

Cyclophosphamide (Cytoxan)
Methotrexate
Azathioprine (Imuran)

These drugs can cause serious side effects, so that should be discussed carefully in the treatment plan with your doctor.

Other medications may be described including:
Bisphosphonate (Fosamax) to prevent bone loss due to prednisone use
Trimethoprim-sulfamethoxazole to prevent lung infections
Folic acid or folinic acid (Leucovorin), if you are taking methotrexate

Support Groups

Support groups with other people with similar diseases may help patients and their families to learn about their diseases and adjust to the changes associated with treatment.

Expectations (prognosis)

Without treatment, patients may die within a few months. With treatment, the outlook for most patients is good. Studies have shown that most patients who have corticosteroids and cyclophosphamide get much better. However, the disease may return in about half of all patients. In these cases, the disease usually comes back within two years after stopping treatment.

Complications

Complications usually result from lack of treatment. Patients with this disease may suffer from ulcers (lesions) in the respiratory tract and kidneys. Kidney lesions cause glomerulonephritis, which may result in blood in the urine and kidney failure. Kidney disease can quickly worsen. Without treatment, kidney failure and death occurs in more than 90% of patients.