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The most visible changes are on the face. It loses facial expressions and natural wrinkles, furrows and creases to take on a specific mask-like appearance. These are symptoms of a dangerous and incurable disease. The average survival time from diagnosis is 12 years.
Scleroderma (Latin scleroderma) is a disease that takes many forms and forms. In medicine, its form is limited to the skin and the so-called systemic scleroderma, in which, in addition to skin lesions, internal organs are involved. Its flagship feature is hardening of the skin, which may be located in various parts of the body. In a systemic form, it often affects the face, giving it a very distinctive appearance. Hard, taut, fibrous skin loses naturally occurring wrinkles, furrows and creases, the face slowly loses its facial expressions, and as the process of fibrosis progresses around the mouth and eyes, radiant wrinkles appear. The face takes on a masked appearance. There are also symptoms – often life-threatening – from internal organs.
Na twardzinę układową kobiety chorują 3-4 razy częściej niż mężczyźni, a najwięcej zachorowań odnotowuje się u osób młodych i w średnim wieku (30-50 lat). To bardzo rzadkie schorzenie, występujące z częstością 4-12 zachorowań na milion osób rocznie. W Polsce cierpi na nie około 10 000 chorych. Przyczyny choroby pozostają nieznane, należy ona jednak do kręgu tzw. schorzeń autoimmunologicznych, w których organizm produkuje skierowane przeciwko własnym tkankom przeciwciała (tzw. przeciwciała przeciwjądrowe), które biorą udział w niszczeniu narządów wewnętrznych. Wskutek niepoznanych dotąd mechanizmów dochodzi także do uszkodzenia naczyń oraz nadmiernej produkcji kolagenu i substancji pozakomórkowej, co prowadzi do pojawienia się zmian skórnych i naczyniowych. Postacie choroby ograniczone do skóry są zwykle niegroźne, choć zmiany takie mogą być bardzo szpecące (np. zmiany podobne do blizny po cięciu szablą występujące w twardzinie linijnej). W twardzinie układowej jednak dochodzi do włóknienia narządów wewnętrznych, co może prowadzić do przedwczesnej śmierci chorych. Konstelacja objawów oraz stopnień zajęcia narządów wewnętrznych i nasilenia objawów różni się u każdego chorego, a choroba ma tendencję do przebiegania w postaci przeplatających się okresów zaostrzeń i remisji.
Finger problems and disappearing lips
Ponieważ twardzina układowa jest chorobą uogólnioną, częstym zjawiskiem jest występowanie niespecyficznych objawów ogólnych, takich jak zmęczenie, osłabienie, zaburzenia snu, bóle stawów i mięśni. Bardzo charakterystycznym objawem jest tak zwany objaw Raynauda. Dotyczy on najczęściej palców rąk, które w momencie narażenia na zimno bledną, następnie sinieją, by po chwili znowu się zaczerwienić. Zmiany te wynikają z nieprawidłowej pracy drobnych naczyń krwionośnych, które ulegają nagłemu obkurczeniu, co prowadzi do niewłaściwego ukrwienia końcówek palców rąk, a czasem także stóp. W zależności od nasilenia zaburzeń krążenia, poza zmianami zabarwienia skóry palców i ich ochłodzenia, może pojawiać się drętwienie, a w skrajnych przypadkach nawet ból. Zdarza się także tak, że niedokrwienie palców jest tak poważne, że dochodzi do trwałego uszkodzenia tkanek i ich martwicy, która czasem prowadzi amputacji. Zaburzenia krążenia mogą występować także w innych lokalizacjach (nos, uszy, a nawet narządy wewnętrzne), u mężczyzn mogą powodować zaburzenia wzwodu.
The most common skin lesions in systemic scleroderma affect the face. The skin becomes very tense, with time it also thinned with visible discoloration and dilated small blood vessels – the so-called spider veins. The contour of the nose changes, it becomes narrow and sharp, and the disappearance of the labial red is also a very characteristic symptom. Lips become narrow, almost invisible. The mouth is also reduced, patients notice difficulties with opening their mouths wide (e.g. while eating, during dental examinations) and sticking out the tongue. The skin of the hands and fingers is also often affected. Initially, it is swollen and red, and over time it becomes fibrotic, impeding the ability to fully bend and straighten the joints. Crippling contractures may also appear. The skin of the hands is prone to difficult-to-heal wounds, and it also happens that in the skin of the hands – less frequently around the elbows and knees – calcification appears, which may come to the surface, leaving ulcerations difficult to heal. In the most advanced forms of the disease, fibrosis and hardening of the skin also occur on the skin of the torso, arms and thighs.
Fatal complications
When it comes to internal organs, systemic scleroderma most often – in as much as 90% of patients – affects the digestive system. Almost half of these patients remain asymptomatic. Others, however, most often experience epigastric discomfort, flatulence, heartburn, as well as swallowing problems, diarrhea and constipation. Much more dangerous symptoms appear when the disease affects the lungs. In the course of systemic sclerosis, even 70% of patients at some stage of the disease may develop lung damage due to the so-called interstitial lung disease leading to pulmonary fibrosis and vascular disorders leading to the development of the so-called pulmonary hypertension. Patients then report symptoms such as reduced exercise tolerance, faster fatigue, shortness of breath, dry cough. Untreated lung disease in the course of systemic sclerosis leads to the destruction of the lung parenchyma, their complete fibrosis and the development of respiratory failure. The appearance of pulmonary hypertension is the main factor leading to premature death in patients with systemic sclerosis. Patients with pulmonary fibrosis are also at a fivefold higher risk of developing lung cancer. The onset of pulmonary hypertension puts a heavy strain on the heart, which has to pump blood to the lungs against the increased resistance in the affected fibrotic lungs. In addition, the disease can lead to myocardial fibrosis and damage to the conduction system. It is estimated that cardiac complications affect about 20 percent of patients and may lead to heart failure and arrhythmias. Some patients die suddenly due to ventricular arrhythmias. Another critical organ, the damage of which determines the life of patients, is the kidneys. Up to 80% of patients with scleroderma develop kidney involvement, leading to kidney failure. A potentially fatal complication occurring in approximately 10% of patients is renal crisis, i.e. rapidly progressive kidney damage accompanied by the development of hypertension, leading to complete renal failure and the need for dialysis.
Difficult treatment and prognosis
Due to the unclear mechanism of disease development and the variety of symptoms, treatment is mainly based on relieving the symptoms of the disease and trying to slow its progression. A patient with scleroderma requires comprehensive care and detailed diagnostics to assess the occurrence of changes in internal organs (mainly lungs, kidneys), and then to monitor the dynamics of disease progression. Since scleroderma is a fairly rare disease with varying degrees of involvement of internal organs, there is still a lack of large clinical trials unambiguously assessing the effectiveness and justification of the use of specific therapeutic methods. Particularly controversial is the issue of the use of glucocorticosteroids, which on the one hand seem to be effective in the treatment of skin lesions and joint ailments, and are also adjuvant therapy in the case of lung involvement, but their high doses are a risk factor for the development of renal crisis. Patients with systemic sclerosis require constant blood pressure monitoring and rapid initiation of effective treatment. Treatment of pulmonary hypertension, which is the main factor of premature death in scleroderma patients, is associated with the need to administer expensive and hard-to-reach vasodilators, and in Poland it is carried out mainly as part of research projects. In extreme, unresponsive to treatment cases of heart and lung involvement, a transplant may be considered. In the treatment of Raynaud’s syndrome, vasodilators are used and it is recommended to avoid exposing the hands to cold, in refractory cases, surgical methods are used.
Rokowanie dla chorych na twardzinę zależy od stopnia zajęcia narządów wewnętrznych. W postaci uogólnionej odsetek dziesięcioletnich przeżyć wynosi około 20%, podczas gdy w postaci ograniczonej sięga nawet 70%. Średni czas przeżycia od postawienia rozpoznania wynosi 12 lat. W chwili obecnej twardzina jest chorobą nieuleczalną.
Text: lek. Paulina Jurek
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