Wegener’s disease, or Wegener’s granulomatosis, is a rare disease affecting the blood vessels. This is an infection of the lining of these vessels (vasculitis). (1)

This vasculitis causes difficulties in blood circulation and in the supply of different organs and tissues with oxygen and nutrients. This can result in the development of damage to the depleted tissue and organ levels.

Late management or lack of treatment for the disease can lead to the death of the patient.

However, effective treatments exist in the treatment of Wegener’s disease allowing subjects suffering from this pathology to live under “normal” living conditions. (1)

The phenomenon of inflammation is characterized by an accumulation of cells at the inflamed site, which results in cell clumping. These cell clumps are also called “granulomas”. These granulomas are all the more observable in the nose and lungs. In this sense, Wegener’s granulomatosis primarily affects the respiratory tract and kidneys. However, other organs can suffer from a deficiency in their blood supply, such as the eyes, heart, skin, joints and nervous system. (2)

This pathology therefore combines inflammation of the walls of blood vessels and granulomatosis. The main symptoms associated with it result in ENT (otorhinolaryngology) damage, lung damage and kidney damage. (4)

Wegener’s disease is also known as granulomatosis with polyangiitis (GPA). (3)

The prevalence (number of subjects affected by this disease) is estimated at 3 / 100.

The disease affects both boys and girls (with a slight male predominance according to some studies (2)) and develops on average around the age of 45. However, the clinical forms differ depending on the age. (4)

Wegener’s disease, or Wegener’s granulomatosis, is defined by inflammation of the blood vessels. This phenomenon of inflammation is the cause of a thickening of the walls of these vessels. Blood circulation is therefore slowed down through a narrowing of the circulation surface. The intake of oxygen and nutrients is therefore reduced for certain tissues and / or organs.

As a result, ischemias (decrease or even stop arterial circulation in an organ or tissue) are observable.

The presence of granulomas (cell clumps) at the level of the initially inflamed part contributes to the increase of this inflammation. (2)

Although many organs and / or tissues can be affected by this pathology (the nervous system, the skin, the heart and the intestines), the inflammation of the blood vessels more particularly concerns the nose, the sinuses, the ears, the lungs. and kidneys. (1)

The first clinical signs observed are similar to a cold or sinusitis: sinus pain, runny nose, ear congestion, fatigue, added to respiratory symptoms such as cough, shortness of breath, and others.

If these different symptoms are not alleviated by cold treatments, they can be a source of the development of Wegener’s disease. (2)

Other symptoms are characteristic of granulomatosis: (1)

– persistent fever;

– night sweats;

– intense fatigue leading to general weakness;

– loss of appetite leading to weight loss;

– joint pain and stiffness;

– ear infections reducing hearing;

– frequent sinusitis;

– recurrent nasal bleeding;

– chest pain;

– a cough and difficulty breathing;

– blood cough and the presence of blood in the phlegm;

– hematuria (presence of blood in the urine).

Some people affected by this pathology are at risk of developing blood clots, particularly in the legs (risk of venous thrombosis, phlebitis, etc.) or in the lungs (risk of pulmonary embolism).

The origins of Wegener’s disease are, to this day, still unknown.

The hypothesis currently put forward is that it is an autoimmune disease, that is to say the aggression of the organism by its own immune system. It is also likely that there are certain genes that make a person more susceptible to the development of the disease.

Wegener’s granulomatosis can also be triggered by other factors, including bacterial or viral infections.

The disease is not hereditary. Indeed, no gene taken independently would be responsible for the development of the disease. The development of the disease in several people within the same family is therefore rare. (1)

In addition, some very exceptional cases of people with the disease within the same siblings have been identified. Certain genes predispose to the development of the disease. However, they are still unknown to this day. (2)

As the origins of Wegener’s disease are not clearly identified, the risk factors for a person to develop the disease remain difficult to identify.

Indeed, even if in very rare cases, several people can be reached within the same family, it is not a question of a hereditary disease. In this sense, genetic transmission does not make it a risk factor.

Some studies have shown that infectious factors could be at the origin of the development of this pathology. Either, a microbial infection could be a risk factor for developing the disease. However, this is only a minimal probability.

Current research on Wegener’s granulomatosis therefore focuses on better understanding the origins of the disease, risk factors and further understanding of the mechanisms of action linked to the disease. (2)

The diagnosis of Wegener’s disease can be made after a blood test.

The presence in the blood of certain antibodies: cytoplasmatic antineutrophilic antibodies (ANCA) is significant of the disease.

However, the blood test of some patients with granulomatosis does not show the presence of this type of antibody. Further examinations are therefore necessary.

Pulmonary involvement being one of the significant signs of the disease, an x-ray of the lungs is often prescribed in parallel with the blood test.

The presence of blood in the urine is also a symptom of Wegener’s disease, a urinalysis may also be prescribed in this context. Usually urine is collected over 24 hours to determine any kidney abnormalities.

A biopsy can be performed as part of a confirmation of the diagnosis: lung biopsy (preceded by bronchoscopy), kidney biopsy, mucosal biopsy of the nose, skin biopsy or even upper airway biopsy.

Finally, a sinus or chest scan can be done in order to diagnose the disease. (3)

The diagnosis of the disease must be made as soon as possible in order to treat the symptoms as quickly as possible and thus avoid lethality.

To date, no curative treatment for the disease as a whole exists. Nevertheless, in order to limit the inflammatory reaction of the blood vessels as well as to treat the main symptoms and to limit the complications, drugs may be prescribed. It is mainly a combination of anti-inflammatory drugs (corticosteroids) and immunosuppressants. (2)

This symptomatic treatment and avoiding repercussions is generally taken over a long period (a few years). Their administrations must be supervised by a general practitioner or specialist. (1)

In severe forms of the disease, long-term treatment with antibiotics may be prescribed to prevent microbial infections.

Plasmapheresis (transfusion of healthy plasma) may be recommended in the event of significant renal impairment, or even renal transplantation. (1)