Midline granulomatosis

Definition

Wegener's granulomatosis is a rare disorder in which certain blood vessels become swollen and inflammed. The inflammation makes it hard for blood to flow. The disease mainly affects the blood vessels in the nose, sinuses, ears, lungs, and kidneys, although other areas may be involved.

Alternative Names

Causes

The cause is unknown. Wegener's granulomatosis is thought to be an autoimmune disorder. Arthritis occurs in about half of all those with this disease.

Wegener's granulomatosis is most common in middle-aged adults. It is rare in children, but has been seen in infants as young as 3 months old.

Symptoms

Frequent sinusitis is the most common symptom. Other early symptoms include a fever that continues without an obvious cause, night sweats, fatigue, and malaise (an ill feeling).

Chronic ear infections may also come before the diagnosis of Wegener's granulomatosis. Other upper respiratory symptoms include nose bleeds, pain, and sores around the opening of the nose.

Loss of appetite and weight loss are common. Skin lesions typically occur, but there is no one typical lesion associated with the disease.

Symptoms of kidney disease may be present (but not always). The urine may be bloody, and often first appears as red or smoky urine.

Eye problems develop in many patients. The eye problems range from mild conjunctivitis to severe swelling of the eye.

Other symptoms include:

• Chest pain
• Cough, or coughing up blood
• Joint pain
• Rashes
• Shortness of breath
• Weakness
• Wheezing

Exams and Tests

Your doctor may order a blood test that looks for a disease-fighting proteins called antineutrophil cytoplasmic antibodies (ANCA), which are often found in persons with active Wegener's granulomatosis. However, it is not foolproof -- the test may 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 kidney disease is necessary to definitely diagnose Wegener's granulomatosis.

Abiopsy is the only way to definitely diagnose this disease. The exact type of biopsy depends on which area of the body the doctor wants to look at. Your doctor may suggest one of the following:

• Open lung biopsy
• Upper airway biopsy
• Nasal mucosal biopsy
• Bronchoscopy with transtracheal biopsy

Other tests that may be done include:

• Chest x-ray
• Chest CT scan
• Bone marrow aspiration

Treatment

Your doctor may suggest treatment with glucocorticoid (such as prednisone) and a cytotoxic drug, which is a medicine that kills cells or blocks their growth and function. Cytotoxic medicines are often used during chemotherapy.

Cytotoxic medicines used to treat Wegener's granulomatosis include:

• Cyclophosphamide (Cytoxan)
• Methotrexate
• Azathioprine (Imuran)

These medicines may cause serious side effects. You should carefully discuss your treatment plan with your doctor.

Other medicines may be prescribed, 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 others who suffer from similar diseases may help patients and their families learn about their diseases and adjust to the changes associated with the treatment.

Outlook (Prognosis)

Without treatment, patients can die within a few months.

With treatment, the outlook for most patients is good. Studies have shown that most patients who receive 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 2 years of stopping treatment.

Possible Complications

Complications usually result from lack of treatment. Patients with Wegener's granulomatosis develop sores (lesions) in the respiratory tract and the kidneys. Kidney lesions cause glomerulonephritis, which may result in blood in the urine and kidney failure

If untreated, kidney failure and death occur in more than 90% of patients.

Other complications may include:

• Lung failure
• Eye swelling
• Nasal septum perforation (hole inside the nose)
• Side effects from medicines used to treat the disease

When to Contact a Medical Professional

Call your health care provider if chest pain, coughing up blood, blood in the urine, or other symptoms of this disorder are present.

Prevention

There is no known prevention.

Murray J, Nadel J. Textbook of Respiratory Medicine. 3rd ed. Philadelphia, Pa: W.B. Saunders Company; 2000: 1462-1463.

Harris ED, Budd RC, Genovese MC, Firestein GS, Sargent JS, Sledge CB. Kelley's Textbook of Rheumatology. 7th ed. St. Louis, Mo: WB Saunders; 2005:1361-1366.