Definition

Granulomatosis with polyangiitis (formerly known as Wegener's granulomatosis) is a rare disease caused by tissue inflammation with an uncertain cause. The areas most commonly affected by granulomatosis include the sinuses, lungs, and kidneys, but others can also be affected.

Granulomatous inflammation is a long-term condition characterized by cell accumulation. Additionally, there is inflammation in the blood vessels (vasculitis). The combination of these two conditions can damage the organ system.

Vasculitis is a general term that refers to inflammation of the blood vessels. When inflamed, blood vessels can become weak and stretch to form an aneurysm (an abnormal swelling or protrusion in the blood vessel wall). Inflammation can also cause blood vessels to become very thin, leading to rupture and bleeding into the tissue. Vasculitis can also cause narrowing of blood vessels, leading to complete vessel closure.

Causes

The exact cause of granulomatosis with polyangiitis remains incompletely understood. It is important to note that this disease is not contagious, and there is no evidence to suggest it is inherited within families.

This condition triggers inflammation, blood vessel narrowing, and the formation of inflammatory complexes known as granulomas. Granulomas can inflict damage on normal tissue, while blood vessel constriction reduces blood and oxygen flow to tissues and organs in the body.

Granulomatosis with polyangiitis is not a form of cancer, nor is it contagious, and it typically does not have a familial pattern. Research strongly indicates that the immune system plays a significant role in its development, as immune responses can provoke swelling and harm to blood vessels and tissues.

Risk factor

Granulomatosis with polyangiitis can manifest at any age, though it predominantly affects individuals within the age range of 40 to 65 years. While the distribution across genders is nearly equal, there is a slight tendency for it to occur more frequently in males.

Symptoms

The symptoms of granulomatosis with polyangiitis can vary among patients depending on the severity of the condition. Common signs may include:

• Loss of appetite
• Weight loss
• Fever
• Fatigue

Respiratory disturbances are often among the initial symptoms, which may include:

• Persistent runny nose or the development of crusts and sores on the nose
• Pain in the nose or face
• Nosebleeds or unusual nasal discharge
• Cough with bloody sputum due to respiratory tract inflammation
• Chest discomfort, possibly with or without shortness of breath
• Changes in voice, wheezing, or shortness of breath if the trachea is inflamed

Other inflammatory symptoms that may manifest include:

• Middle ear inflammation (otitis media), accompanied by pain or hearing impairment
• Eye inflammation and pressure behind the eyes, which can hinder eye movement and may or may not result in vision loss
• Muscle or joint pain due to inflammation
• Skin rashes or sores
• Kidney inflammation

Diagnosis

Diagnosing granulomatosis with polyangiitis involves a comprehensive process encompassing medical history interviews, physical examinations, and diagnostic tests. During the medical history interview, the doctor gathers information regarding the patient's primary complaints, accompanying symptoms, past medical history, family medical history, and prior treatments. The symptoms may mimic those of other disorders, so this phase can pose diagnostic challenges.

Subsequently, a thorough physical examination is conducted, which includes measuring vital signs such as blood pressure, pulse, body temperature, and respiratory rate. The doctor then performs a head-to-toe physical examination.

Diagnostic tests are crucial in diagnosing granulomatosis with polyangiitis. Some of the tests that can be conducted include:

Blood Tests:

• Laboratory tests can assess:
• Inflammatory markers such as C-reactive protein (CRP) or erythrocyte sedimentation rate may be elevated.
• Presence of anti-neutrophil cytoplasmic antibodies, commonly found in active granulomatosis with polyangiitis.
• Anemia which is prevalent in individuals with this disease.
• Kidney function, as kidney inflammation may affect filtration of metabolic waste.
• Urine tests can detect red blood cells or excess protein, indicating potential kidney involvement.

Imaging Studies:

• Chest X-rays, CT scans, or MRI scans help identify affected blood vessels and organs, aiding treatment monitoring.

Tissue Biopsy:

• A procedure where a tissue sample is obtained from inflamed areas for laboratory analysis. Biopsy confirms the diagnosis of granulomatosis with polyangiitis.

Management

With early diagnosis and proper treatment, granulomatosis with polyangiitis can be cured within a few months. However, long-term drug therapy may be necessary to prevent relapses. Regular doctor visits are essential to monitor your condition even after treatment cessation.

Medications

Corticosteroids, like prednisone, suppress the immune system and reduce blood vessel inflammation. Common side effects include weight gain, infection risk, and osteoporosis.

Additional medications may be prescribed to suppress the immune system further and prevent excessive inflammation. These are often administered via injections and may be combined with corticosteroids. Some medications may be continued in the long term to prevent disease recurrence.

To mitigate medication side effects, doctors may prescribe adjunctive medications.

Plasma Exchange

Also known as plasmapheresis, this treatment removes disease-causing substances from the blood's liquid portion (plasma). Fresh plasma or albumin, a protein produced by the liver, is then administered to facilitate new plasma production. Plasma exchange can aid in kidney recovery for individuals with severe conditions.

Complications

In addition to affecting the nose, sinuses, throat, lungs, and kidneys, granulomatosis with polyangiitis can also target various other organs. Complications that may arise from this disease include:

• Hearing loss
• Formation of scar tissue on the skin
• Narrowing of the airways just below the vocal cords
• Kidney damage
• Loss of height in the bridge of the nose (saddle nose) due to cartilage weakness
• Blood clots form in one or more veins, typically in the legs

Prevention

Currently, specific steps to prevent granulomatosis with polyangiitis have not been identified. However, similar to other autoimmune diseases, adopting certain lifestyle changes can benefit overall health and may aid in managing the condition. These include:

• Consuming a balanced nutritious diet
• Managing stress levels effectively
• Engaging in regular exercise
• Avoiding smoking and recreational drugs
• Maintaining a healthy sleep pattern

When to see a doctor?

If you experience recurrent symptoms of a disease, particularly if these symptoms persist, it's crucial to consult with a doctor. The doctor can conduct initial examinations to identify the cause of your symptoms and may refer you to an internal medicine specialist for further evaluation if necessary.

If you have been diagnosed with granulomatosis with polyangiitis, reach out to your doctor if your previous symptoms resurface or if you encounter new symptoms. Regular communication with your healthcare provider is essential for ongoing management.

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