Rare diseases often leave patients in deep distress. This is the case of Behcet’s disease : a chronic inflammatory autoimmune condition that is characterized by vascular damage. While no treatment currently cures this pathology, researchers from Inserm, AP-HP and Sorbonne University have demonstrated that infliximab, a monoclonal antibody, would be more effective than the immunosuppressants currently administered. This discovery, published in October 2024 in the journal New England Journal of Medicine Evidence, could change the outcome of these patients.
Oral, genital, skin, eye, joint lesions: all organs can be affected by these vasculitis. Vascular damage represents the main cause of death, particularly due to the aortic or pulmonary arterial aneurysms that they induce. Present throughout the world, this pathology stay more common along the Silk Road, which connects China to the Mediterranean.
To achieve this result, French scientists selected, in 21 centers in France, 52 patients with the most severe form of the disease, with significant damage to the vascular and nervous system. All participants were divided into two groups : one received infliximab in addition to corticosteroids, and the other received cyclophosphamide.
81% response to treatment
According to the researchers, 81% of patients in the first group achieved a complete responsecompared to 56% for the second group. The risk of relapse is reduced to 16% for patients treated with infliximab, compared to 4% for those who received cyclophosphamide. THE side effects have also decreased: 30% versus 64%.
“The results of this trial show the benefit of combining corticosteroid therapy with infliximab in the treatment of severe central arterial and neurological damage of the disease. These very encouraging results could indeed change support if they are confirmed in the longer term,” the press release specifies.
Causes still unknown
The origin of this pathology still remains today unknown. “We know that sick people have, for multiple reasons that are still imperfectly understood, a lack of regulation of their immune systemleading to the activation of certain white blood cells (lymphocytes) and the infiltration of vessels and organs by these cells, which are at the origin of the inflammation observed”, explains the website of the Société Nationale Française de Internal medicine.
An infiltration which would also depend on a genetic predisposition. The antigen HLA B51 is found in some cases. “It is unlikely that your child will develop the disease during their life when you yourself are affected,” specifies the website of the French National Society of Internal Medicine.
The diagnosis of rare diseases takes too long
“Behçet’s disease is a genetic disorder which is quite rare. It is not by doing 10 scanners, 3 MRIs and several biological exams that we will be able to diagnose these pathologies”, explains on Hello Doctors Professor Sabine Sarnacki, head of the pediatric visceral surgery department at Necker hospital.
“In these rare disease problems, it is the journey that the patient will follow that is most important, and how they will be able to return to the right place at a given time. Today, there is 131 reference centers for rare diseases in Francewhich cover all rare conditions listed in the scientific literature. But the only problem is getting to the right place,” she continues.
