High fever, pale pink rash, joint, muscle and abdominal pain, pharyngitis, swollen lymph nodes, pleurisy and pericarditis, enlargement of the spleen and sometimes liver. These are the main symptoms of Still’s disease in adults, the “systemic variant” of rheumatoid arthritis. None of these symptoms, however, is sufficient to establish that it is the rare autoinflammatory disease. For this reason, the diagnosis is often “one of exclusion”.
“A rare, but serious and potentially fatal, complication of this disease is the Macrophage Activation Syndrome (Mas), which is a pathology of the immune system, resulting from a disorder of the immunoregulatory capacities. Laboratory tests typically show a significant increase in the indices of systemic inflammation, a neutrophilic leukocytosis (an excessive number of a type of white blood cell in the blood) and a marked elevation of ferritin values ”. Lorenzo Dagna, Head of the Immunology, Rheumatology, Allergology and Rare Diseases Operating Unit of the IRCCS San Raffaele Hospital in Milan in an interview published on the Aleati per la Salute website (www.alleatiperlasalute.it) the portal dedicated to information medical-scientific carried out by Novartis, takes stock of the rare disease, the causes of which are not yet known.
“However – explains Dagna – it has been hypothesized that some infectious agents (viruses or bacteria) and some genetic factors interacting with each other may have a role in the genesis of this disease, but the data are still conflicting. Of course, we know that in people affected by this disease there are high levels of inflammatory cytokines, the substances produced by the immune system responsible for triggering and amplifying inflammation ”.
This is a rare condition. “A French study – recalls Dagna – has estimated an annual incidence of this disease equal to 1.6 cases per million people. Men and women can be affected in a similar way. There are two age groups in which the onset of the disease is more frequent: between 16 and 25 years and between 36 and 46 years of age. However, patients with onset over the age of 70 have been reported ”.
The management of adult Still’s disease is complex starting from the diagnosis, since in most cases a diagnosis of exclusion is necessary to be able to recognize this condition. “It is necessary not only to document the presence of the clinical and laboratory characteristics of the disease – underlines the neurologist – but also the absence of other diagnoses that can cause similar symptoms and alterations. In particular, numerous infectious, neoplastic, autoimmune, auto-inflammatory and dermatological diseases that can manifest themselves in a very similar way must be excluded ”.
Aim of the therapy: to control the signs and symptoms related to inflammation, to prevent damage to the organs involved in the disease, minimizing the risk of side effects. “The treatment – concludes Dagna – depends on the severity of the manifestations associated with the disease. Mild forms are treated with anti-inflammatories or low doses of cortisone. Moderate forms with cortisone at higher dosages, often in association with immunosuppressive drugs that are intended to allow a reduction in cortisone dosages. In case of failure of these therapies or in the most serious forms of the disease, biological drugs are used that are able to neutralize the proinflammatory cytokines that are most responsible for the pathogenesis of the disease (interleukin-1β and interleukin-6 in particular) “. The expert’s intervention is available on: https://www.alleatiperlasalute.it/diagnosi/la-malattia-di-still-delladulto