Goodpasture Syndrome: Causes, Symptoms & Treatment

Goodpasture’s syndrome is a rare but severe autoimmune disease that particularly affects the lungs and kidneys. There is no cure for the disease.

What is Goodpasture’s syndrome?

Goodpasture’s syndrome was first described by American pathologist Ernest William Goodpasture in 1919. He drew a picture of a particular form of kidney inflammation combined with pulmonary hemorrhage. Today, it is clear that the kidney inflammation is a rapidly progressive glomerulonephritis. Goodpasture’s syndrome is a type II autoimmune disease in which antibodies are formed against components of blood vessels, particularly in the kidneys and alveoli. Type II autoimmune diseases belong to the type II allergies. These are allergies of the cytotoxic type. The body forms immune complexes against cellular antigens. As a result of the ensuing immune reaction, the body’s own cells are destroyed. The disease is extremely rare. There is a maximum of one case per 1,000,000 people per year. The disease is most common between the ages of twenty and forty. Men are affected twice as often as women.

Causes

As described earlier, Goodpasture syndrome is a type II autoimmune disease. The body of affected patients forms antibodies against the so-called Goodpasture antigen. In affected individuals, this antigen is located in the alveoli of the lungs and in the basement membrane of the kidney. The basement membrane is a thin layer of tissue in the renal corpuscles. The antibodies attack and destroy the Goodpasture antigens within these structures. This process causes severe inflammation within the kidney and lungs, severely affecting the function of the organs. While the kidney is always affected, lung involvement is not obligatory. Goodpasture’s syndrome is therefore also referred to as glomerulonephritis with pulmonary involvement. Pre-existing lung disease, smoking, and previous exposure to hydrocarbons increase the risk that the disease will also damage the lungs.

Symptoms, complaints, and signs

Affected individuals are asymptomatic for a relatively long time. At the beginning, the disease is manifested only by uncharacteristic symptoms such as loss of appetite or vomiting. Later, the symptoms focus on the picture of progressive glomerulonephritis. Damage to the small vessels in the renal corpuscles causes proteins to leak into the urine. Edema forms as a result of the protein loss. These are mainly noticeable as swellings in the area of the eyes and later also in the area of the lower legs and ankles. Protein and possibly also blood can be detected in the urine. If more red blood cells enter the urine due to the damaged vessels, the urine appears pink to reddish in color. The loss of blood may lead to anemia with symptoms such as hair loss, fatigue and exhaustion. If left untreated, glomerulonephritis rapidly progresses to terminal renal failure with acute renal failure. Symptoms of renal failure include pruritus, bone pain, edema, headache, fatigue, heart failure, or gastrointestinal distress. If there is pulmonary involvement, there is shortness of breath and coughing. In the late stages, affected individuals cough up blood. Again, the blood loss can then cause anemia or worsen an already existing anemia. In addition, bleeding within the lungs leads to iron deposition, resulting in pulmonary siderosis.

Diagnosis

When Goodpasture syndrome is suspected, antibodies are determined by indirect immunofluorescence. Indirect immunofluorescence is used to determine whether antibodies to the patient’s own cells are found in the patient’s blood serum. For this purpose, the patient’s blood serum is placed on a cell substrate and washed off again after a short time. In this way, only bound antibodies remain on the cell substrate. Now an antibody labeled with fluorochrome is bound to the substrate. This also binds to human antibodies. If antibodies have attached to the substrate in the first step, the second antibodies that have just been added will now bind to these antibodies. These antibody complexes can be detected with a fluorescence microscope. X-rays of the lungs can reveal damage. A lung biopsy may be performed.A kidney biopsy can also be performed to diagnose Goodpasture’s syndrome. Here, crescents can then be detected in the kidney tissue. These are absolutely typical for the autoimmune disease.

Complications

The symptoms and complications caused by Goodpasture’s syndrome vary greatly and in most cases only become apparent in the final stages of the disease. This involves vomiting, diarrhea, and loss of appetite. The loss of appetite can also cause malnutrition, which is a very threatening condition for the patient’s health. The kidneys are also damaged, so that in the worst case, renal insufficiency can occur. In this case, the patient is then dependent on dialysis to survive. Similarly, discomfort occurs in the eyes, and they are often swollen. The patient feels tired and ill and suffers from hair loss. Headaches and aching limbs are also common. Furthermore, the respiratory tract becomes infected, so that breathing difficulties and shortness of breath may occur. It is not uncommon for hemoptysis to occur. The complaints place an extreme burden on the patient’s everyday life and lead to a reduced quality of life. Treatment of Goodpasture’s syndrome is imperative, otherwise death will result. With treatment, there are no further complications, with a mortality rate of approximately 20 percent. If the disease has been defeated, no further symptoms occur.

When should you see a doctor?

Since there is no self-healing in Goodpasture’s syndrome, a doctor must be consulted in any case. This significantly increases the patient’s life expectancy, although the disease itself is not curable. A doctor should be consulted if there is persistent vomiting and loss of appetite. Swelling of the eye or protein in the urine may also indicate Goodpasture’s syndrome and should always be examined by a physician. Many patients also suffer from blood loss and thus permanent fatigue and exhaustion. Furthermore, a visit to the doctor is necessary if the affected person suffers very frequently from headaches or bone pain. There is also itching and discomfort in the stomach and intestines. If Goodpasture’s syndrome is not treated, breathing problems will also occur, which must be examined in any case. In most cases, the initial examination of the syndrome is performed by a general practitioner. However, further treatment requires the involvement of various specialists to alleviate the symptoms.

Treatment and therapy

If left untreated, Goodpasture’s syndrome always leads to death. Even with therapy, mortality used to be as high as 90 percent. Today, the prognosis has improved significantly because of the glucocorticoid therapies used. Cortisone preparations and additional immunosuppressants are used. These inhibit the function of the immune system. Preparations such as azathioprine or cycylophophamide are used. Plasmapheresis can have a supporting effect. In plasmapheresis, the patient’s blood plasma is completely replaced with the aid of a plasmapheresis device. The antibodies against the Goodpasture antigen are eliminated in the process. If the lungs are involved, smoking should be stopped immediately. In addition, it is recommended that any lung infection be treated immediately with antibiotics. Treatment of Goodpasture’s syndrome lasts eight to twelve months. With therapy, the chances of survival for affected patients have increased dramatically. Mortality has been reduced to less than 20 percent. However, the disease cannot be cured. Recurrences, so-called rebounds, are possible at any time.

Outlook and prognosis

A complete cure is not possible for Goodpasture syndrome because it is a genetic disorder that can only be treated symptomatically. Without treatment, the syndrome leads to premature death of the affected person in most cases. Immunosuppressants can be used to alleviate some of the symptoms, but sufferers are dependent on lifelong therapy. If the affected person smokes, the symptoms usually worsen and there is a reduced life expectancy. The patient’s life is also generally severely limited by Goodpasture’s syndrome. The affected person cannot participate in sports activities and should not expose himself to physical stress.This can also delay development in children, so that growth disorders or developmental disorders occur. It is not uncommon for Goodpasture’s syndrome to be associated with psychological complaints or even depression as a result of the disease. In everyday life, despite treatment, those affected often suffer from severe pain and are therefore unable to carry out ordinary activities without further ado. Due to the loss of appetite, this often results in deficiency symptoms that must be compensated for.

Prevention

Since it is not known what causes antibody formation against the body’s own cells, Goodpasture’s syndrome cannot be prevented. Because the disease is definitely fatal without therapy, early diagnosis is very important. Only in this way can severe organ damage be prevented and those affected can lead a largely normal life.

Follow-up

In Goodpasture syndrome, the options for follow-up care are very limited. Because the condition cannot be cured, affected individuals are usually dependent on lifelong therapy to relieve symptoms. Self-cure is not possible. Furthermore, the life expectancy of the patient is usually significantly reduced and limited by Goodpasture’s syndrome. In most cases, patients with Goodpasture’s syndrome are dependent on taking medication. It is important to ensure that the medication is taken regularly, and possible interactions with other medications must also be taken into account. In cases of doubt, a doctor should always be consulted. In the case of children, it is primarily the parents who are responsible for ensuring that the medication is taken correctly and, above all, regularly. Furthermore, regular blood tests are necessary to detect disorders of the immune system at an early stage. In general, those affected by Goodpasture’s syndrome should always protect themselves from illnesses and infections in order not to put unnecessary strain on the immune system. Infections must be treated immediately with antibiotics, and alcohol must not be taken while taking antibiotics. Furthermore, contact with other sufferers of Goodpasture’s syndrome may also be useful.

This is what you can do yourself

Goodpasture syndrome cannot be treated through self-help options. Affected individuals are dependent on medical treatment, and the possibility of death cannot be ruled out, as the disease leads to renal insufficiency in many cases. Even after successful therapy, the disease may recur. Many affected persons need emotional support due to the disease. This can be provided primarily by friends and family. In severe cases, a psychologist or a therapist can also be consulted. If a child suffers from Goodpasture’s syndrome, a clarifying and detailed conversation about the disease must be held in order to inform the child about the possible course of the disease. Talking to other affected people can also help and avoid psychological discomfort and depression. Since patients suffer from severe limitations and pain in their daily lives, the body should always be spared. Therefore, strenuous work should be refrained from in order not to aggravate the symptoms. Furthermore, despite lack of appetite, the patient should eat and drink regularly to avoid deficiency symptoms.