A disease that begins innocently, by whitening the fingers, but complications can be fatal.

Scleroderma is a systemic connective tissue disease that does not affect a single organ, but the entire human body. The disease usually begins with whitening of the fingers, bruising from cold or during stress, when it is called Rhine syndrome. The disease is also characterized by damage to the skin and internal organs, eventually manifested by fibrosis, hardening or scarring.

“This rare disease mainly affects women of working age between 35 and 55 years old. There are different epidemiological data available, but basically systemic sclerosis affects one in ten thousand people, so it is considered a rare disease,” he says. Rheumatologist Doc Rita Rugiene.

According to her, there is no single cause of systemic sclerosis. The development and progression of the Rhine syndrome can be affected by cold, long-term smoking, and certain medications. However, this is only part of the cause of the disease. According to the doctor, the appearance of the disease can also be influenced by a genetic predisposition to rheumatic diseases. Viral, bacterial infections or various substances used in the beauty industry or industry are also believed to play an important role.

Most rheumatic diseases are characterized by an autoimmune inflammatory process, vascular damage, but systemic sclerosis is characterized by progressive fibrosis, that is, hardening or scarring. One of the most dangerous manifestations of the disease is the progression of fibrosis in the lungs. This complication occurs in more than a third of all patients and becomes the most common cause of death.

Patient story: these diseases would not be prone to the greatest enemy

Vanda, who has had severe systemic sclerosis for almost ten years with pulmonary hypertension, is one of those patients whose life has been fundamentally changed by the disease and has had a significant impact even on a woman’s daily activities.

“When I found out about the disease, I was 63 years old, I had recently retired. But while I was still working as a chef I noticed that my hands were starting to swell, my skin was cracking, I thought it was from work because my hands were always wet. When I finished working, the symptoms didn’t go away, my hands were doing it, I was bluish, I was breathing constantly, I was thinking, maybe because of the air. I went to the polyclinic, I didn’t find anything there. But then the family doctor referred me to the Santara clinics, where I heard the diagnosis of systemic sclerosis, ”Vanda recalls.

In women, the disease also immediately damaged the lungs. Over the years, this has caused a rise in blood pressure in a small circulatory system called pulmonary hypertension.

Due to this complication, Vanda is monitored and treated at the VUL SK Pulmonary Hypertension Center, and receives special therapy that reduces shortness of breath and improves well-being. A few years ago, the woman received additional infusion therapy, with a pump inserted into her abdomen that controls the dose of the drug. Every other day, Vanda has to refill the machine with medication and is visited once a month by a nurse who replaces the needle. To reduce dust, Vanda has been receiving additional oxygen for several years with the help of an oxygen device. The oxygen emitted by the device must be inhaled for about 12 hours. per day.

“It’s a big, heavy machine, so I can only use it at home. When I wake up in the morning, I immediately turn on and breathe. I don’t have a chance to go anywhere unless someone drives me to the clinic. Because of it. to a hand injury, there is little I can do around the house, I just prepare food and make a bit of a fuss with myself. I go to the store very rarely because I start to smoke, so once a week he visits me A social worker who helps me, buys what I need. Now I can only go out to the patio to sit in the open air, my options are very limited. It is a very serious disease, I would not wish the greatest enemy, “says the patient.

New treatment options for pulmonary fibrosis

According to rheumatologist R. Rugienė, both the development and treatment of systemic sclerosis are complex and require a lot of experience. In Lithuania, most drugs for the treatment of the disease are available, and patients with systemic sclerosis are systematically monitored and treated.

“Patients with systemic sclerosis are monitored and treated by rheumatologists, consulted by cardiologists, pulmonologists and other specialists. Those patients diagnosed with pulmonary hypertension receive specific treatment and their condition stabilizes and, for the most part, improves. 2012 In the Santara clinics, a patient with systemic sclerosis underwent the first autologous hematopoietic stem cell transplant in Lithuania, which successfully halted the progression of the disease. This alternative treatment method is still used ”, says the doctor.

There are several groups of drugs for the inhibition of the inflammatory autoimmune process, but there is still no effective treatment for the fibrotic process, especially lung damage. Although antifibrotic therapy drugs have been approved by the European Medicines Agency for about a year and are available in other countries.

According to Agnė Gaižauskienė, director of the Association of Innovative Pharmaceutical Industry, the situation in Lithuania could improve significantly if the health sector were to become a priority area in terms of public finances.

“According to current state funding for health, our country has up to 2 percent. It is behind the OECD average of 6.6%. GDP. This is one of the main obstacles that make the availability of innovative medicines less accessible to patients in our country ”, says A. Gaižauskienė.

2020 m. atlikto WAIT (Hoping to access innovative therapies), the European Medicines Agency had approved 152 innovative medicines for the period 2016-2019. However, only 26 of them were available to Lithuanian patients.

“Systemic sclerosis affects people of working age, limiting their daily activities, opportunities to work and live a full life. Prompt and effective treatment would not only save their lives, it would also have an impact on their quality of life. Therefore, we hope that the innovative treatment of this threatening disease will finally pay off in Lithuania as well, ”says A. Gaižauskienė.

How to identify emerging health risks?

Systemic sclerosis is a rare disease, so there is a lack of information about it not only for people but also for doctors. Whitening of the fingers, bruising from the cold, called the Rhine syndrome, may be the first prophet of the disease. Later, swelling of the skin of the extremities and face occurs, followed by hardening. This disease affects not only the skin, but also the entire digestive tract, the heart.

Pulmonary fibrosis is one of the main causes of death in systemic sclerosis, so the timely identification of its main signs is very important. Most of the time it is shortness of breath caused even by daily activities like walking, and patients also experience a dry cough and increased fatigue.

Due to the general nature of pulmonary fibrosis symptoms, people often view them as signs of smoking or aging, and doctors mistake them for symptoms of other common respiratory diseases. For these reasons, finding a diagnosis can take a long time. Therefore, it is very important to know the first symptoms of the disease. The sooner the symptoms of this threatening disease are noticed, the earlier the diagnosis is made, the sooner it will be possible to start the necessary treatment and stop the progression of the disease.

According to A. Gaižauskienė, early and accurate diagnosis and timely treatment can reduce the symptoms of this threatening disease and the likelihood of irreversible damage.