Goodpasture syndrome is a rare but potentially deadly disorder that affects about 0.5 to 1.8 people per 1,000,000 every year (DeVrieze & Hurley 2021).

Recognising the symptoms of Goodpasture syndrome and escalating care immediately is crucial in preventing fatality (DeVrieze & Hurley 2021).

What is Goodpasture Syndrome?

Goodpasture syndrome, which may also be referred to as anti-glomerular basement membrane (anti-GBM) disease, is a potentially life-threatening autoimmune disorder where the body produces antibodies that attack the lining of the lungs and kidneys (DeVrieze & Hurley 2021; NKF 2015).

The disorder is characterised by:

• The presence of anti-GBM antibodies, with
  • Pulmonary alveolar haemorrhage (bleeding in the lungs), and/or
  • Glomerulonephritis (kidney inflammation).

(GARD 2017; NKF 2015; Lee 2021)

Without prompt treatment, symptoms can progress rapidly, leading to life-threatening bleeding in the lungs, renal failure and potentially death (Story & Marcin 2018; NKF 2015).

What Causes Goodpasture Syndrome?

It’s unknown exactly what causes anti-GBM antibodies to develop, but they’re thought to be triggered by an environmental insult in a person with a pre-existing genetic susceptibility (GARD 2017).

Once anti-GBM antibodies are produced, they attack the collagen present in the alveoli and capillaries in the lungs, and/or the glomerulus (filtering units in the kidneys), causing bleeding in the lungs and inflammation in the kidneys (GARD 2017).

Potential environmental triggers include:

• Certain medicines (e.g. alemtuzumab)
• Cocaine inhalation
• Certain infections (e.g. influenza A2)
• Smoking
• Exposure to metal dust, organic solvents or hydrocarbons
• Extracorporeal shock wave lithotripsy (which is used to treat kidney stones).

(DeVrieze & Hurley 2021; NKF 2021)

Those who have a genetic predisposition to the creation of anti-GBM antibodies appear to have specific human leukocyte antigen (HLA) subtypes (DeVrieze & Hurley 2021).

Risk Factors for Goodpasture Syndrome

Those who appear to be at increased risk of Goodpasture syndrome include:

• Younger men and older women
• White people
• Those aged between 20 and 30
• Those aged between 60 and 70.

(DeVrieze & Hurley 2021)

Symptoms of Goodpasture Syndrome

(GARD 2017)

Diagnosing Goodpasture Syndrome

A diagnosis is made upon the presentation of:

• Bleeding in the lungs, which can be detected via chest X-ray and lung biopsy, or bronchoscopy with fluid wash out
• Urinary symptoms (e.g. blood and/or protein in the urine), which can be detected via blood and urine tests
• Circulating anti-GBM antibodies, which can be detected via kidney biopsy.

(GARD 2017; NKF 2015; Lee 2021)

Bleeding in the lungs should be diagnosed and treated the most urgently, as this is the main cause of early death in patients with Goodpasture syndrome (GARD 2017).

There are several differential diagnoses that may need to be ruled out, including:

• Granulomatosis with polyangiitis
• Churg-Strauss syndrome
• Systemic lupus erythematosus
• Microscopic polyangiitis
• Rheumatoid arthritis
• IgA-mediated disorders
• Community-acquired pneumonia
• Undifferentiated connective tissue disease
• Behcet Syndrome (in children)
• Haemosiderosis (in children)
• Legionella infection (in children).

(GARD 2017)

Treatment For Goodpasture Syndrome

Patients will often present critically ill and will require immediate haemodialysis, along with intubation in the case of respiratory failure. At this stage, a kidney biopsy may also be taken to confirm the diagnosis (DeVrieze & Hurley 2021).

The primary goals of treatment are to:

• Quickly remove anti-GBM antibodies via daily plasmapheresis - a procedure wherein blood cells are separated from the plasma (which contains the anti-GBM antibodies), and the plasma is replaced with another solution, or treated and returned back to the body
• Prevent the body from creating more anti-GBM antibodies by administering immunosuppressive medicines
• Remove any environmental irritants that may have triggered the production of anti-GBM antibodies, e.g. via smoking cessation, or changing jobs if the patient is occupationally exposed to hydrocarbon.

(GARD 2017; DeVrieze & Hurley 2021; Heitz & Falck 2018)

Patients may also require supportive care such as oxygen administration, mechanical ventilation and/or blood transfusion (Lee 2021).

Even with appropriate treatment, renal failure is common, in which case the patient will require dialysis and in severe cases, a kidney transplant. However, more than 70% of surviving patients will only require dialysis temporarily (DeVrieze & Hurley 2021).

Post-discharge, the patient will need to continue treatment. Plasmapheresis is generally performed daily until anti-GBM antibodies are undetectable, and immunosuppressive therapy will continue for a further three to six months after cessation of plasmapheresis. Renal function will also be monitored long-term (DeVrieze & Hurley 2021; GARD 2017).

Overall, the five-year survival rate of Goodpasture syndrome is over 80%, however, it’s crucial that treatment is commenced immediately, as delays may lead to fatality (DeVrieze & Hurley 2021).