Antifospholipidic syndrome (APS) It is a rare autoimmune disease that can cause hazardous blood clots and severely affecting internal organs. A recent study identified two key proteins involved in the complications of this condition, opening new perspectives for diagnosis and developing targeted treatments, which could prevent progressive deterioration of patients.
This rare autoimmune disease, which affects approximately one person in 2,000, is especially known to increase the risk of hazardous blood clots, such as deep venous thrombosis or stroke (stroke).
A lesser -known, but serious complication is APS associated vasculopathy, characterized by the progressive thickening of the walls of small blood vessels, which leads to narrowing of the lumen (the space through which the blood circulates) and to the organs such as the skin, the kidneys or the heart. In the absence of an adequate blood flow, these organs gradually deteriorate, and can reach insufficiency. Currently, therapeutic options are extremely limited.
A study, led by researchers at the University of Michigan Health and Shanghai Jiao Tong University of Medicine, and published in the magazine Circulationthe Official Journal of the American Heart Association), offers new perspectives on the mechanisms underlying this complication.
The researchers analyzed skin biopsies from patients with severe forms of APS and used an advanced technique, sequencing at the single cell level, to identify the individual characteristics of the vascular cells.
The results showed an increased expression of two proteins in the CCN – CCN1 and CCN2 family – involved in cell communication.
Usually, these proteins are known for their role in fibrosis (scar tissue formation), but in the APS context have been associated with stimulating the proliferation of endothelial cells and smooth muscle cells that form the walls of blood vessels. This excessive proliferation leads to thickening of the vascular walls and reducing the space available for blood circulation, which favors the appearance of vasculopathy.
Of the two proteins, CCN2 has been shown to have a stronger impact on vascular cells, offering a possible target for developing new therapies.
“There are already biological drugs targeting the CCN2, but we need to obtain the support of the decision makers to initiate clinical studies dedicated to patients with APS,” said Dr. Jason Knight, doctor and rheumatology professor at the University of Michigan Health, quoted in a statement.
Biological drugs are treatments produced from living organisms or components, as opposed to classic drugs, which are obtained by chemical synthesis. These include monoclonal antibodies, therapeutic proteins, vaccines or DNA -based therapies. They are used in particular in the treatment of autoimmune diseases, cancer and rare conditions, because they can very specifically concern the mechanisms involved in the disease.
In parallel, the research team explores more accessible therapeutic options, which have similar effects.
The study has also demonstrated significant over -expression of CCN1 and CCN2 proteins in the kidneys of patients with APS, confirming that the skin may represent a non -invasive diagnostic window for the pathological processes affecting the internal organs.
The researchers are now preparing a large monitoring project of at least 100 patients with long -term APS associated Vasculopathy, in order to better understand the clinical evolution of the disease and to substantiate future clinical studies.
“Our goal is the development of new treatments to prevent the deterioration of vital organs in patients with APS. This discovery is an important step in this direction,” said Dr. Hui Shi, currently a university lecturer Jiao Tong University of Medicine, who led the research with Dr. Knight.
The study marks significant progress in understanding the antiphospholipid syndrome and opens the way for targeted therapies, which could greatly improve the quality of life of patients affected by this rare disease.
