The June 29, 1940 from scleroderma or systemic sclerosis the famous painter Paul Klee died. Precisely for this reason June 29 was chosen as the date for the World Scleroderma Dayestablished to raise awareness and increase knowledge about this disease, which is still often underestimated today.
“Scleroderma is one systemic diseasethat is, it affects the whole organism – explains Professor Marco Matucci Cerinic, rheumatologist of the Immunology, Rheumatology, Allergology and Rare Diseases Unit of the IRCCS San Raffaele Hospital as well as president of the World Scleroderma Foundation – The disease is characterized in fact by the involvement of the skin that progressively becomes hardas the name implies, from the Greek sclerohardening, e dermisleather, but also from the involvement of internal organs, especially lung, heart and intestine ».
It is estimated that in Italy the disease affects about 25 thousand people, with a higher incidence in women.
“At the moment we consider it one rare disease because in fact we do not have studies that allow us to accurately establish the incidence – explains Professor Matucci Cerinic – however we know that it mainly affects womenin a ratio of about 5 to 1 with respect to males, with the characteristic, however, of being much more severe in men than in women. As for the age of onset, on the other hand, it ranges from 0 to 100, with a peak between the ages of 40 and 60“.
Depending on the organs it affects, scleroderma can give rise to serious complications: at the origin there is in fact the continuous aggression of the tissues by the immune system with progression to fibrosis which becomes so chronic and dysfunctional. The alarm bells not to be underestimated?
«A classic key sign is the Raynaud’s phenomenon – explains Professor Matucci Cerinic – that is whitening of the fingers, followed by cyanosis and then redness: the hands first become white, then blue because no blood flows and, when the vessels dilate, they become red. Raynaud’s phenomenon is quite widespread, not always linked to scleroderma because the causes are many, but we can say that 30% of patients with this disorder may present with scleroderma. Another common symptom is also that of puffy fingers or plump, swollen fingers. These are the two fundamental clinical elements at the beginning of the disease ».
Depending on the extent of skin involvement, scleroderma can manifest itself in two different forms: the most frequent one, characterized by a gradual and chronic onset, with the appearance of Raynaud’s phenomenon, the involvement of the fingers, forearms and face, accompanied by the involvement of the pulmonary microcirculationit’s a instead more aggressive formbut rarer, with a acute and progressive onset which involves the fibrotic transformation of the whole skin of the body. In both forms, i can also be involved lungs, the digestive tract, the heart but also the kidneys, with a variable progression from rapid to slow depending on the case.
“With this in mind, the very early diagnosis is crucial – explains Professor Matucci Cerinic – patients in the initial phase can in fact be subjected to one in real time therapy that allows you to prevent the evolution of the disease“.
How is the diagnosis made? “In addition to the search for autoantibodies in the blood, it is possible to investigate the presence of alterations in the microcirculation – explains the expert – then proceed with a videocapillaroscopya simple and trivial exam not particularly expensive that allows you to evaluate alteration of the vessels in the periungual bedor located around the nail ».
And what about the carewhat are the possibilities offered to patients today?
“There disease today is treated but not cured – concludes Professor Matucci Cerinic – we do not yet know the cause of scleroderma so we cannot cure it. We can though treat her to send her into remissionsilence it so that the patient can conduct a decent quality of life, almost normal. However, as we said, it is essential that the disease is treated early and followed over time “.
Patient Associations
Systemic sclerosis was registered in the list of rare diseases only after the January LEA (Essential Assistance Levels) update 2017 even if, even today, the patients who are affected by it they do not enjoy equal protection in all regions.
In recent years, the work carried out by the Associations who fight to increase knowledge of the disease and above all to ensure that there is full recognition of patients’ rights.
“Scleroderma is a very complex systemic disease – he explains Manuela Aloise, president of the Italian League of Systemic Sclerosis – in fact, it involves a whole series of difficulties that can affect the ability to walk as well as to work, as the hands are also affected. Without considering the complications on a psychological level, with a depressive phase that is almost always a trait of the disease. For this i patients should be able to rely on a range of collateral care services which unfortunately, especially in some regions, are still missing ».
To complicate matters, the little knowledge that there is still today of the disease and the consequent difficulty of patients in receiving an early diagnosis.
“We as a voluntary association of patients and family members, in fact, found ourselves not only providing social support – explains Manuela Aloise – but also often support for early diagnosis, offering free screening exams to citizenship with the initiative Open hospital. Unfortunately, today there is a lack of public service on the early diagnosis of this disease ».
The treatment centers
In 1993 the GILS was also born in Milan, or the Italian Group for the Fight against Scleroderma which has the main objective of supporting the sick and their families with information and training activities focused onimportance of early diagnosis and of promotion of scientific research.
In 2014, with the aim of creating a network that could expand to second-level centers, the GILS launched the Scleroderma Unit which are among the reference centers existing today for the management of scleroderma patients. This network includes, among others, the Policlinico of Milan, the Umberto I of Rome and the Careggi Hospital of Florence (on the site of Gils sclerodermia.net it is possible to consult the list of treatment centers existing on the national territory).
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Source: Vanity Fair
