Experts call for promoting personalized medicine in scleroderma, given the heterogeneity of its symptoms


On the occasion of the celebration of World Scleroderma Day, which is commemorated this Wednesday, the Spanish Multidisciplinary Society of Systemic Autoimmune Diseases (SEMAIS) warns that this disease, in addition to being a rare disease, is “very heterogeneous”, so that defend the importance of research, both clinical and basic, of the disease to facilitate personalized medicine.

“In reality, the term systemic scleroderma encompasses several diseases with the same name, but with different surnames, which are the ones that are going to conceive the clinical characteristics and define the subgroups of patients”, points out the doctor and scientific director of SEMAIS , Carmen Pilar Simeon Aznar.

Given its heterogeneity, the symptoms of scleroderma may differ from one patient to another. The most common manifestation is skin induration. Depending on the extent of skin induration, patients are classified into clinical-prognostic skin subtypes. “In 90 percent of cases the skin is affected, but, being a systemic disease, it also affects internal organs, often the esophagus and the lung,” Dr. Simeón points out.

Thus, changes in the skin (thickening and hardening) sometimes cause the physical appearance of the hands and face to change. For example, there is a decrease in the opening of the mouth, which can make eating and oral hygiene difficult.

For its part, the pulmonary condition manifests itself in the form of pulmonary fibrosis and pulmonary hypertension. Regarding digestive problems, any section of the digestive system can be affected, but especially the esophagus, giving rise to swallowing problems, causing difficulties in eating solid foods and gastroesophageal reflux.

“Until now, we do not have a therapy that manages to control the disease in a global way. However, in recent years, numerous drugs have demonstrated their effectiveness in important manifestations of the disease,” says the specialist.

As he explains, all patients undergo a complete study to detect visceral conditions related to the disease, and thus diagnose them early to start treatment as soon as possible and carry out specific monitoring. “In this way, complications can be avoided,” says Dr. Simeón.

According to the expert, since the disease can affect different organs, it is essential to carry out a multidisciplinary approach both for the diagnosis of the different conditions and for treatment. For this reason, it is common for patients with scleroderma to agree on treatment in committees in which different specialists participate.

Likewise, in addition to pharmacological therapy, rehabilitative therapy is essential to avoid complications secondary to skin induration and improve the musculoskeletal condition.

In recent years, interest in the disease has increased significantly, so that “great advances” have been made, both in clinical and basic research, according to SEMAIS. “The combination of both will facilitate the development of an optimal classification system for this complex and heterogeneous disease,” they add.

In this regard, Dr. Simeón highlights the importance of carrying out an integrated classification of scleroderma that includes a broader and more real vision of the disease. This requires the cooperation of clinical, basic (omics data, profiles or genetic signatures) and bioinformatic scientists.

As he indicates, “the approach of incorporating and harmonizing multiple clinical and biological characteristics in subgroups of patients with scleroderma is the foundation of precision medicine.” In the future, he continues, genetics, plasma, serum and/or cellular biomarkers can be used for classification and will provide information on pathogenic mechanisms, “which will allow therapeutic progress, making personalized medicine a reality for patients with scleroderma”.