An Overview of Goodpasture Syndrome

Goodpasture syndrome is a very rare and potentially life-threatening autoimmune disease that damages both the lungs and the kidneys. It is also sometimes known as Goodpasture disease or anti-glomerular basement membrane (anti-GBM) disease. However, medical professionals sometimes use these terms slightly differently.

Goodpasture syndrome is a rare disease, with one in a million people newly diagnosed with the condition each year. It was first characterized by a Dr. Ernest Goodpasture in 1919. For reasons that aren’t clear, the disease is most common at two times of life: in a person’s 20s and later around their 60s.

Symptoms

The symptoms of Goodpasture syndrome result from problems with the lung and kidney. Around 60 percent to 80 percent of people with the disease experience symptoms of both lung and kidney disease. In contrast, around 20 percent to 40 percent get kidney disease only, and less than 10 percent of people experience only lung problems.

In some cases, Goodpasture syndrome can cause severe pulmonary hemorrhage: bleeding from the lung and other parts of the respiratory tract. This may indirectly lead to anemia, low counts of red blood cells. If more severe, blood may block the exchange of oxygen in the small sacs of the lungs. This may cause respiratory failure, a life-threatening condition in which the body does not receive enough oxygen.

The kidney problems of Goodpasture syndrome are due to a condition called glomerulonephritis. That just refers to inflammation of a specific part of the kidney called the glomerulus. This leads to additional symptoms and problems.

Sometimes these symptoms come on gradually. In other cases, they become quite severe over several days. If kidney problems are severe, it can lead to uremia. This a potentially life-threatening condition from having too high levels of a waste product called urea in your blood.

Occasionally, Goodpasture syndrome occurs along with another condition called autoimmune inner ear disease. This can lead to symptoms such as:

• Fullness in the ear
• Ringing in the ear
• Dizziness
• Sudden hearing loss

Causes

Goodpasture syndrome is thought to be a type of autoimmune disease. In these medical conditions, parts of the immune system become dysregulated. This can cause parts of the immune system to attack normal tissue, leading to symptoms of these diseases. Both genetic and environmental causes are believed to contribute to most autoimmune diseases, but these are not fully understood.

In Goodpasture syndrome, the immune system seems to be abnormally activated against a component of collagen that is found in both the lungs and the kidneys. In the kidney, this affects the glomeruli, the tiny filters in the kidney that help remove excess water and waste products from your blood, turning them into the urine. In the lung, it can affect the alveoli, the tiny sacs of air where oxygen and carbon dioxide are exchanged. The immune activation and inflammation then lead to the symptoms of the condition. Abnormal activated antibodies are called anti-GBM antibodies.

Genetics also play a role in triggering Goodpasture syndrome. People with certain variants of specific genes are much more likely to get the disease than people without these genetic variants. However, most people with these variants do NOT get the disease, so other factors also seem to be important.

In particular, lung disease from Goodpasture syndrome seems much more likely to occur if the individual has suffered some prior lung damage from another cause.

Diagnosis

In diagnosing Goodpasture syndrome, the clinician must distinguish between other medical conditions that can affect the lungs, the kidneys, or both organs. For example, certain kinds of vasculitis can cause similar symptoms, as can some other autoimmune diseases, like lupus.

• Diagnosis of Goodpasture syndrome requires a medical history and physical exam. Your medical provider will ask questions about your other medical problems and your current symptoms. He or she will also thoroughly assess all parts of your body to look for diagnostic clues. Basic bloodwork will also help assess kidney function, anemia, and infection.

Sometimes these tests are enough to diagnose Goodpasture syndrome and begin treatment. However, kidney biopsy usually provides a definitive diagnosis for the condition. This is performed percutaneously, that is, through a small incision made through the skin. The kidney tissue is removed and examined under a microscope. This enables clinicians to more accurately diagnose the exact cause of kidney problems.

Critically ill patients may not be able to have a kidney biopsy until their condition becomes more stable. A lung biopsy is usually not as effective a diagnostic tool as a kidney biopsy, but it may be necessary in cases where a kidney biopsy is not possible.

Some other tests that are important to help manage the patient include:

• Analysis of a urine sample (gives information about kidney function)
• Chest X-ray (can show pulmonary hemorrhage)
• Pulmonary function tests

Treatment

Early treatment of Goodpasture syndrome focuses on two things: rapidly removing anti-GBM antibodies from the blood and stopping their future production.

Removal of antibodies from the blood is done through a process called plasmapheresis. During plasmapheresis, a person’s blood is removed from their body via a needle and connected to a machine. This machine then removes the harmful antibodies before pumping the remaining parts of the blood back into the person’s body. A patient will need to undergo this process once a day or every other day for around two to three weeks, or until the anti-GBM antibodies appear to be completely removed.

Stopping production of new anti-GBM antibodies is also very important. This is done by suppressing a person’s immune system. Some of the following medications might be used for this purpose:

• Corticosteroids
• Cyclophosphamide
• Azathioprine (sometimes used due to toxic effects of cyclophosphamide)

Most commonly, corticosteroids plus cyclophosphamide are given as the initial treatment.

Depending on disease severity and other factors, these drugs may be given intravenously or orally. Patients may initially be given high amounts of these drugs to get their disease under control. After that, they may be able to take lower maintenance doses. Depending on how the individual responds to treatment, they may need to take immunosuppressive drugs for several months. Before stopping immunosuppressive therapy, the physician will need to test for levels of anti-GBM antibodies, to make sure that these are no longer present.

People taking immunosuppressive drugs can be more likely to get certain infections. Getting a lung infection soon after an episode of Goodpasture’s syndrome may be quite dangerous. Because of this, sometimes people with Goodpasture syndrome are also prophylactically treated with medications to help prevent infection. These might include certain antifungal drugs, antibiotics, and antiviral drugs.

Some patients with Goodpasture syndrome are critically ill at diagnosis. These individuals may need a great deal of supportive care in a medical intensive care unit. For example, these individuals might need intubation—placement of a tube in the trachea—to help prevent respiratory failure.

Emergency hemodialysis is also sometimes necessary. This helps perform some of the kidney’s functions to eliminate waste from the body. In some cases, this need will be temporary until treatments can take effect. In other cases, individuals may suffer long-term damage to the kidneys. These people may need hemodialysis over the long-term. For some of these individuals, a kidney transplant is an option. Transplant should only be considered if an individual has been free of anti-GBM antibodies for several months.

It’s also important that people with Goodpasture syndrome remove possible disease triggers. For example, smokers should be highly encouraged to quit smoking. Treatment of Goodpasture syndrome usually requires input from multiple medical specialties, including critical care nurses, pulmonologists, nephrologists, and rheumatologists.

Prognosis

The initial period of illness of Goodpasture syndrome is often quite serious, and some patients do die. However, greater than 90 percent of patients survive this stage of the illness if they receive high-level care. Rates of survival are around 80 percent at five years after the episode. Recovery of full kidney function depends largely on how severely the kidneys were affected prior to starting therapy.

Usually, people who suffer an episode of Goodpasture syndrome never have a second one. However, sometimes people do have disease relapses.

A Word From Verywell

Goodpasture syndrome is a very rare disease. It is a medical crisis that can strike rapidly, leading to life-threatening symptoms. It can be frightening and disorienting to learn that someone you love has a serious illness, even though they were previously healthy. But though the disease is serious, we have some good treatments to put the disease in remission, and most people will never experience another disease episode. A whole team of healthcare providers will work with you every step of the way through diagnosis and treatment. Don’t hesitate to reach out for support from your friends, family, and your entire medical team.