Generality
Wegener's granulomatosis is a rare inflammatory disease that affects medium and small-caliber blood vessels. In other words, it is a vasculitis.
Figure: a granuloma, under the microscope. Image from: //en.wikipedia.org/wiki/Granuloma
Because of the disease, the blood flow that passes through the blood vessels affected by inflammation is reduced; to pay the consequences are the organs of the body, no longer sprayed properly.
In the early pathological stages, the symptoms of Wegener's granulomatosis appear in the lungs and upper and lower airways. Later, especially if the disease is not treated properly, they can extend to the kidneys, heart, ears and skin.
For proper healing, corticosteroid and immunosuppressive drugs are mainly required.
What is Wegener's granulomatosis?
Wegener's granulomatosis is an inflammatory disease that alters the wall of medium and small-caliber blood vessels.
Failing the integrity of the vessel wall, blood flow is reduced and the organs of the body (directly connected to the vessels involved) are no longer sprayed properly.
Usually, the sites of the body most affected by Wegener's granulomatosis are the kidneys, lungs and upper and lower respiratory tracts, but it is not excluded that it may arise elsewhere.
Without adequate therapeutic treatment or in case of late diagnosis, Wegener's granulomatosis can also have fatal outcomes, especially if the kidneys are involved.
WEGENER'S GRANULOMATOSIS IS A VASCULITE
When we talk about vasculitis, we are referring to an inflammation of the blood vessels, both arterial and venous. Wegener's granulomatosis is to be considered a vasculitis, as it affects the arterial and venous vessels of medium and small caliber, as well as certain capillary systems.
WHY ‰ IS GRANULOMATOSIS OF WEGENER CALLED?
The term granulomatosis derives from the fact that the disease is characterized by the formation of granulomas . Granulomas are proliferations of connective tissue, circumscribed and nodular in shape; their origin may be different: in the case of Wegener's granulomatosis, the presence of granulomas is certainly due to the inflammatory state characteristic of the disease.
The term Wegener, on the other hand, is due to the first doctor who described the disease: Friedrich Wegener .
Figure: the districts of the body, which are affected by Wegener's granulomatosis.
From: //ybowarina.realfreehost.com/
The disease is however also known as granulomatosis with polyangiitis, where the term polynagioite indicates an inflammatory process that involves multiple vascular or lymphatic vascular structures.
Epidemiology
According to English statistics, about 500 people get Wegener's granulomatosis every year.
The disease has no preference for a given sex, while it seems to prefer light-skinned individuals for a reason that is currently unknown.
Wegener's granulomatosis can occur at any age, but according to some epidemiological data it is more frequent among those between 40 and 60 years.
Causes
Currently, the precise cause that causes Wegener's granulomatosis remains unknown.
However, given the characteristics of the pathology, it is thought that this may have an autoimmune origin. Autoimmune diseases are all those pathologies characterized by an exaggerated and improper response of the immune system; immune system that, in the healthy individual, represents the body's defensive barrier against external aggressions (bacteria, viruses, etc.), while in autoimmune diseases it also affects certain healthy tissues of the body.
GENETICS AND ENVIRONMENT
According to some theories (but there is still no certain evidence), it seems that, to provoke the exaggerated autoimmune response, it is the concomitant presence of two factors, one of a genetic type and an environmental one.
By genetic factor, we mean a predisposition, on the part of the sick individual, to develop Wegener's granulomatosis.
By environmental factor, on the other hand, we mean an infection caused by a viral or bacterial agent (which, specifically, the etiological agent remains completely unknown).
In the absence of any of the two factors, the disease does not arise.
Symptoms and Complications
The symptoms and signs of Wegener's granulomatosis may appear suddenly or take several months to occur. Each patient, therefore, represents a case in itself.
The first organs and districts of the body to pay the consequences of inflammation, at the level of the blood vessels, are the upper airways (nose, mouth, paranasal sinuses and ears), the lower ones (larynx, trachea and bronchi) and the lungs .
Once it appears in these sites, the disease can spread and affect other vessels, particularly those that supply the kidneys .
The patient with Wegener's granulomatosis may complain of the following symptomatology:
- Constant-flowing nose with pus presence
- Nose blood ( epistaxis )
- Sinusitis
- Ear infections
- Cough with or without blood emission ( hemoptysis )
- Chest pain
- Shortness of breath
- General malaise
- Weight loss for no reason
- Joint pain and swelling
- Blood in the urine ( hematuria )
- Skin irritation
- Redness, burning and eye pain
- Temperature
WHEN TO REFER TO THE DOCTOR?
The distinctive signs of Wegener's granulomatosis are the persistent runny nose (even after several pharmacological treatments), epistaxis and hemoptysis. Therefore, if such circumstances arise, it is advisable to contact your doctor immediately.
A carelessness can create big complications.
COMPLICATIONS
Complications arise when the inflammatory state, caused by Wegener's granulomatosis, extends to other areas of the body. Possible targets are: the kidneys, the eyes, the ears, the spinal cord, the heart and the skin.
- Hearing loss . Inflammation of the blood vessels reaches the middle ear, causing more or less consistent hearing loss.
- Cutaneous vasculitis and signs on the skin . Cutaneous vasculitis is distinguished by red spots on the skin; other signs, instead, can consist, for example, in nodules at the level of the elbows.
- Heart attack (infarction) . It occurs when the inflammation reaches the coronary arteries (the arteries of the heart). In fact, in such circumstances, the blood supply drops and the cardiac cells (the myocardium) die, consequently causing a reduced activity of the heart. The main symptoms are chest pain, dyspnea, sweating, heartburn etc.
- Damage and consequent renal failure . The less blood supply to the kidneys, the latter begin to be irreparably damaged and to no longer work properly. This causes the accumulation of those substances that are toxic to the body, which would normally be filtered and expelled by the renal system. The terminal phase of this very slow process - and, unfortunately, sneaky (because of the symptoms that initially are not always evident) - is renal failure, characterized by severe uremia (ie, high levels of nitrogenous substances in the blood).
Kidney failure is the leading cause of death for Wegener's granulomatosis sufferers.
- Anemia . It can develop over time. Many patients with Wegener's granulomatosis are affected.
- Deep venous thrombosis and pulmonary embolism . They can arise from the first pulmonary disorders.
Diagnosis
A certain diagnosis of Wegener's granulomatosis is established only after a long series of accurate examinations.
Characteristic symptoms and signs, evaluated on physical examination:
- Runny nose and epistaxis
- Ear infection
- Sinusitis
- Hemoptysis
- Chest pain
We begin, as often happens, with an objective examination, in which we analyze the symptoms and signs manifested by the patient, and we investigate his clinical history .
Then we move on to more thorough and specific checks, such as blood and urine tests, and chest radiological checks.
If at the end of this diagnostic process there are still doubts, the doctor can have a biopsy performed on the organs or tissues involved; the presence of granulomas and signs of vasculitis has only one meaning: Wegener's granulomatosis.
BLOOD TESTS
The blood sample taken by the patient can be subjected to the following tests:
- Research of neutrophil cytoplasmic antibodies ( ANCA ). ANCA are present in the blood of many Wegener's Granulomatosis patients, but not all. This makes this test 100% unreliable.
- Erythrocyte sedimentation test . Evaluate the rate at which red blood cells sediment at the bottom of the tube that contains them. The faster this movement, the easier it is for inflammation to occur. It is not 100% reliable, as many other inflammatory diseases cause the same reactions.
- Anemia test . It is not 100% reliable, because not all patients with Wegener's granulomatosis are anemic.
- Creatinine levels . It is used to assess renal function. It is a valid test, if the disease has invaded the kidneys; otherwise, incorrect conclusions may be drawn.
URINE EXAMINATION
Urine tests provide information on the health status of the kidneys. The presence of blood and proteins could indicate a renal disorder.
CHEST RADIOGRAPHY
Figure: Radiological image of the chest of an individual with Wegener's granulomatosis. From the site: www.nhs.uk
Origin of tissues for biopsy:
- Nasal and paranasal cavities
- Upper and lower airways
- Lungs
- Skin
- Kidneys
Chest X-ray provides an image of the lungs. It is possible to recognize some of their anomalies, but it is not possible to establish with certainty whether they are Wegener's granulomatosis or another lung disease.
BIOPSY
Biopsy is the safest and most informative clinical examination.
Performed under local anesthesia, a piece of tissue is taken from an affected organ to be observed under a microscope. At the instrument, the presence of granulomas or signs of vasculitis is unequivocal.
Treatment
Thanks to an early diagnosis and appropriate treatment, the acute phase of Wegener's granulomatosis resolves within a few months.
After this first period, maintenance therapy is required, lasting even 18-24 months, as complete healing takes a long time. Neglecting this aspect means exposing oneself to relapses.
PHARMACOLOGICAL TREATMENT
The most widely used drugs are corticosteroids, immunosuppressants and a monoclonal antibody, called rituximab.
Corticosteroids are powerful anti-inflammatories, which are taken precisely to reduce inflammation. These drugs can cause numerous side effects and this explains why they are given at the lowest effective dose.
In patients with Wegener's granulomatosis, the most widely used corticosteroid is prednisone .
Immunosuppressants reduce inflammation by acting on the immune defenses, which, as mentioned above, are exaggerated in case of Wegener's granulomatosis and cause serious damage to the body. Cyclophosphamide, azathioprine or methotrexate belong to this category of medicines. The intake of immunosuppressants exposes the patient to a greater risk of contracting infections.
Rituximab is a monoclonal antibody that reduces B cells, cells of the immune system involved in inflammation. Its use, in cases of Wegener's granulomatosis, has also been approved by the FDA (US government agency for the regulation of food and pharmaceutical products).
WHAT TO DO AGAINST SIDE EFFECTS?
To prevent the side effects of the aforementioned drugs, the doctor prescribes or recommends:
- Sulfamethoxazole associated with Trimethoprim, to prevent lung infections.
- Bisphosphonate, calcium and vitamin D based supplements, to reduce or prevent osteoporosis.
- Folic acid, to prevent the effects of methotrexate treatment.
OTHER TREATMENTS
Certain circumstances, such as late diagnosis of the disease or carelessness in the treatment, may require plasmapheresis and surgery.
Plasmapheresis is a somewhat complicated procedure that is performed on the patient's blood. It is practiced not only in the case of Wegener's granulomatosis, but also in the occurrence of autoimmune diseases, such as systemic lupus erythematosus.
Surgery, on the other hand, may be required for kidney transplantation, when the kidneys are irreparably damaged, or to resolve airway complications or even middle ear problems.
Prognosis
For those who suffer from Wegener's granulomatosis, the best prognosis is obtained under these conditions:
- Early diagnosis
- Appropriate care of the acute phase of the disease
- Maintenance therapy of the right duration
If these three fundamental indications are respected, the duration and quality of life are safeguarded. It is true that some disturbance is created by prolonged drug intake or by periodic blood checks (to see how inflammation develops), however this is nothing compared to complications (kidney failure, severe respiratory disorders, heart attack etc.) of a neglected or poorly treated Wegener's granulomatosis.
