Scleroderma is an uncommon disease, but when it occurs, it causes intense damage to the patient’s life.
Due to the overproduction of collagen and other connective tissue proteins , affected people may experience swelling in the joints, skin and even internal organs.
Among the most associated causes are genetic factors, causing changes in the immune system, as well as vascular abnormalities
From the Greek skleros (hard) and derma (skin), scleroderma is a chronic non-contagious autoimmune disease , considered rare and little known among the population. It is characterized by the hardening of the skin, caused by the accumulation of collagen in the tissues.
When it affects only the skin, the disease is classified as localized scleroderma. However, if the excess production of collagen also affects blood vessels and internal organs, there is a systemic scleroderma.
In such cases, numerous complications arise that can even lead to the death of the patient. Therefore, the severity of the disease is directly related to which regions of the body have been affected.
The first visible signs are skin lesions, which appear in the form of spots and marks.
In systemic scleroderma, the initial symptom is usually Raynaud’s Phenomenon – a condition that affects 95% of patients and causes color changes in the fingers after contact with the cold. However, symptoms can vary widely from one individual to another.
Despite the limitations, proper diagnosis and treatment can make the patient have a good relationship with the disease, in addition to a good life expectancy.
For this, it is important to know scleroderma in depth and understand how it affects your body.
The term autoimmune may seem confusing to some people. Therefore, understanding what it means is the starting point to better understand how scleroderma affects the body of those who live with the condition.
An autoimmune disease is characterized when an individual’s immune system creates antibodies to fight its own body. That is, instead of protecting, the defense mechanism attacks itself, affecting countless organs, cells and tissues. In this way, it is easier to understand why scleroderma is such a complex disease.
Scleroderma can be divided into two types: localized and systemic. Such classification is related to the symptoms and the way the disease manifests itself in the body. Understand:
In these cases, the disease affects isolated areas of the skin, without reaching internal organs and blood vessels. In some situations it can extend to muscles, joints and bones. More common in children, this type of scleroderma is subdivided into:
It is characterized by localized patches of thickened (hardened) skin, ranging from 1 to 5 cm in diameter, commonly oval shaped, with white coloring in the middle and purple border. The spots affect the trunk more frequently, but they can also appear in other parts of the body, such as arms and legs.
The symptoms of this subtype of the disease do not cause pain and tend to disappear on their own, although recurrences are common.
As the name implies, this type of scleroderma is represented by areas in lines or strips of hardened skin, extended along the arm or leg. In such cases, it is common for the affected limb to become thinner, since the layer of fat that is located under the skin tends to disappear. When the line is located in the frontal region – forehead or other area of the face – the condition is called “saber-toothed”.
Systemic scleroderma (systemic sclerosis)
Systemic sclerosis involves lesions in the small blood vessels and collagen-producing cells located throughout the body. That is, in this case, not only the skin is affected, but also the internal organs. It can be classified as:
In addition to the skin, this subtype of the disease affects the digestive tract and, rarely, it also involves the heart and lungs. The most affected regions of the skin are usually the hands, forearms, legs, feet, face and neck.
The acronym CREST, another term used to describe limited systemic scleroderma, represents the most common signs and symptoms of these patients:
- C alkinosis (calcium deposits on the skin);
- R aynaud phenomenon (changes in the color of the skin of the fingers after exposure to cold);
- D esophageal dysfunction (difficulty in swallowing and / or reflux);
- E S clerodactyly (stiffness and thickening of the skin on the fingers or toes);
- T elangiectasias (small vessels that cause red lines under the surface of the skin).
It is worth remembering that such symptoms tend to develop gradually.
This is the most severe type of scleroderma and can lead to death. It is characterized by a greater involvement of internal organs, including lungs, heart and kidneys, in addition to the digestive system. Common symptoms in these cases are shortness of breath, fatigue , joint pain and stiffness.
This variant of the disease is quite rare and occurs when there is evidence of scleroderma in an internal organ without the appearance of signs and symptoms on the skin.
The diagnosis of the disease in children can be daunting in the eyes of parents. However, the vast majority of small children will have localized scleroderma – one that affects only the skin. According to the organization Scleroderma and Raynaud’s UK (SRUK), cases of childhood systemic sclerosis represent only 10%.
In such cases, treatment and prognosis are no different from those indicated for adults. Of course, it will be up to the parents to take control of the child’s illness, offering the necessary support, especially in the emotional aspect.
It is worth mentioning that children diagnosed with linear localized scleroderma should receive even more rigorous monitoring, since the development of the affected limb can be impaired.
Medicine cannot yet explain what causes the disease. What is known is that scleroderma is the result of overproduction and accumulation of collagen in the body’s tissues, caused by the activation of the immune system of a susceptible individual.
Studies indicate that such predisposition may be related to genetic factors, but that, by themselves, they do not cause the disease. However, a susceptible individual who is exposed to certain chemicals, insect bites and medications is more likely to develop the condition. Therefore, the most accepted hypothesis is that scleroderma is a result of the combination of genetic and environmental factors.
In the case of systemic sclerosis, scientists consider the involvement of three factors in the onset of the disease:
Fibrosis and collagen overproduction
Collagen is a protein highly present in the body’s connective tissue – the one responsible for retaining cells. It can be found on the skin, joints, tendons and even the internal organs.
And do you know that thickened skin, characteristic of the patient with scleroderma? So, excess collagen production is largely responsible for this symptom. This is because this protein, when accumulated, originates a healing process (fibrosis), altering the normal functioning of the affected area.
Immune system dysfunction
As stated earlier, scleroderma is an autoimmune disease, in which there is an immune response against the structures of the body itself. It is known that patients with systemic sclerosis have a high amount of T cells (cells of the immune system), which, when activated, can cause a continuous inflammatory reaction.
Damage to small vessels is frequent in scleroderma. These body structures, which can also be called microvasculature, usually have the ability to contract and dilate, activated as different blood flow needs arise.
Healing on the wall of these vessels, caused by the accumulation of collagen, causes the canal to narrow and, consequently, the blood flow to decrease. In addition, in systemic sclerosis, blood vessels lose their ability to dilate (relax), increasing the chances of vasospasm (contracture of the wall and increased narrowing of blood flow).
Considering that the causes of the disease are still unknown, it is difficult to determine which factors increase the chances of developing the problem. However, it is known that scleroderma is four times more common in women. During the fertile period , this number increases to ten compared to men.
The disease still usually manifests itself in people aged 25 to 55 years, especially in patients diagnosed with Raynaud. In addition, the localized form of the disease is more common in children, while the systemic form usually affects adults.
Raynaud’s phenomenon is often the first symptom of systemic scleroderma, affecting about 95% of patients. For this reason, it deserves special attention.
But what are the signs of this condition? People with Raynaud are highly sensitive to changes in temperature. When exposed to cold or stressful situations , their extremities change color, reaching shades ranging from white to purple. This happens due to the contraction of the microvasculature of these regions. When blood circulation is restored, the area returns to its normal color.
In the vast majority of cases, the phenomenon affects the fingers and toes, but it can also affect other extremities, such as ears, nose and nipples.
It is worth noting that Raynaud’s Phenomenon is only related to scleroderma in its secondary form, where there is an underlying condition. In this subtype of the disease, the small blood vessels gradually decrease in size and sometimes disappear over time.
To find out if Raynaud’s symptoms are being caused by scleroderma, it is important to seek medical help as soon as you notice the first signs. This is because most patients diagnosed with the phenomenon, and who do not have other typical symptoms of scleroderma, do not have autoimmune disease.
In addition to Raynaud’s phenomenon, the most characteristic signs of scleroderma affect the skin, as this region is affected in both types of the disease. In the systemic variant, symptoms may develop more gradually and spread to other parts of the body.
In the skin
- Hardening and thickening of the skin;
- Sclerodactyly (hardening that causes swelling in the fingers and the formation of contractures, making mobility difficult);
- Dry and shiny skin;
- Telangiectasias (small vessels that cause red lines under the skin’s surface);
- Calcinosis (calcium deposits on the skin that cause hardened lumps or nodules);
- Changes in skin color (very light or darkened);
- Swelling (edema);
- Slow healing in small cuts, which can progress to ulcerations;
- Loss of hair and sweat glands in the affected area.
I do not treat gastrointestinal
- Gastroparesis (slow emptying of the stomach);
- Difficulty swallowing.
In the respiratory tract
- Lack of air;
- Dry cough.
- Joint pain and stiffness;
- Weakness and fatigue;
- Weight loss;
- Difficulty sleeping.
There are several problems that can be caused by scleroderma, especially in the systemic type, when there is involvement of internal organs. In these cases, the symptoms are not always visible, hence the need for multidisciplinary monitoring.
People with scleroderma, especially systemic, are at increased risk of developing heart disease. Some of them include:
Hypertensive heart disease
According to SRUK, about one in 10 patients has high blood pressure in the pulmonary arteries. In these situations, the right side of the heart needs to work harder, increasing the chances that the organ will wear out and eventually fail.
Coronary artery disease
Systemic sclerosis can considerably increase the patient’s risk of developing coronary artery disease, a condition that affects the main blood vessels in the heart. Such a problem can cause angina ( chest pain ), heart attack and heart failure.
Changes in normal heart rhythm are common in elderly people who have fibrosis in the heart tissue. In these cases, the most frequent type of arrhythmia is atrial fibrillation, a serious condition that generates irregular beats in the atrial chambers and can cause blood clots to form.
Two conditions are quite common in patients with the disease:
When it affects the lungs, scleroderma generates pulmonary fibrosis. As a consequence, transporting oxygen into the bloodstream of that area becomes more difficult. Thus, with reduced lung function, the patient feels short of breath and less tolerance to exercise.
Pulmonary arterial hypertension
This rarer condition is characterized by an increase in blood pressure in the pulmonary artery. It can occur when the blood vessels in the lung become narrower due to fibrosis. The result of all this is a reduction in the amount of blood that reaches the lungs, in addition to less oxygen in the bloodstream. In these cases the patient feels short of breath or tired .
Changes in kidney function can be easily detected in people who have scleroderma. However, most of the time, there is nothing to worry about, since even with reduced functional capacity, the kidneys are able to work perfectly.
In rare cases, patients may develop an uncontrollable increase in blood pressure, resulting from narrow blood vessels in the kidney. This whole process characterizes a scleroderma renal crisis (CRE), a condition that can generate renal failure, making the patient need dialysis or even a transplant.
Changes in the digestive system
To understand how the disease relates to the digestive system, it is important to remember that this complex is formed by the gastrointestinal tract, which comprises the organs that go from the mouth to the anus. Thus, fibroses that form in the tissues of the digestive system can cause weakened muscles and alter the movement of food in the digestion process.
This can lead to more serious conditions, such as:
The esophagus has the function of taking food from the mouth to the stomach. In people with scleroderma, the mechanism that controls the entry of food does not work properly, causing acids in the stomach to enter the esophagus. Thus, heartburn and reflux directly affect the patient.
In some situations, it is also possible that acids cause injuries to the lining of the lower esophagus, causing scarring and stenosis (narrowing of the canal).
The slower movement of food within the body caused by the narrowing of the esophagus can result in difficulty in swallowing, creating that feeling as if the food is stuck. This can also have consequences for speech.
Oral and dental problems
Microstomy (decreased mouth opening) is one of the possible symptoms of the disease. The lack of treatment for this problem can harm the patient’s health, affecting his diet, dental hygiene and speech.
Raynaud’s changes can evolve into so-called digital ulcers: wounds that reach the fingers and toes. Such a condition causes permanent damage to the tissue of the fingertips, favoring the appearance of infections. In the most severe cases, there may be gangrene and the need for amputation.
It is common for patients diagnosed with scleroderma to also have Sjögren’s Syndrome, an autoimmune disease that decreases the secretion of the lacrimal and salivary glands. That is, this condition makes it difficult for the person to produce the tear and saliva, resulting in dryness of the mouth and eyes.
All of this can lead to eye inflammation, as well as difficulty in swallowing and speaking, increased cavities and decreased taste.
In children diagnosed with morpheal localized scleroderma, if the affected areas are the head and neck, permanent eye damage is possible.
Changes in sexual function
Scleroderma can cause erectile dysfunction and vaginal dryness, affecting the sex life of men and women, respectively.
The fact that a man is unable to maintain an erection may be related to damage to one or more of the following systems: circulatory, nervous and psychological – all of which are affected by scleroderma. In the case of women, the decrease in vaginal lubrication may be directly linked to dryness of the mucous membranes, one of the symptoms related to Sjögren’s Syndrome, which is frequent in patients with the disease.
Depression and anxiety
It is not uncommon for patients with chronic diseases to present psychological problems. This is because the treatment tends to be time consuming and very stressful, which can generate anxiety . Added to this is the fact that scleroderma causes certain limitations in the lifestyle of those living with the disease, thus favoring depression .
The changes in the skin, common in both types of scleroderma, can directly impact the image that the patient has about himself.
Autoimmune diseases tend to be more difficult to diagnose. And in the case of scleroderma it is no different! There is no specific exam capable of detecting the problem. Therefore, in the vast majority of cases, it is necessary to carry out a series of tests, including to check whether internal organs have been affected.
After the physical examination, the doctor is likely to request:
Blood tests are used to check the levels of certain antibodies produced by the individual’s immune system. If these numbers are high, there is a high chance that the patient will have the disease.
In these tests, the types of antibodies evaluated are also very important. This is because they can help to identify the type of scleroderma and suggest if there are internal organs affected. For example: in the limited form of systemic scleroderma, or CREST, the anti-centromere antibody is found at a frequency of 20 to 40%. In such cases, the appearance of ulcers is also common.
Other antibodies associated with scleroderma:
- Anticorpos anti-Scl-70;
- Anticorpos anti-U3-RNP (fibrilarina);
- Anticorpos anti-RNA polymerases I, II and III;
- Anticorpos anti-Th-RNP (Th/T0);
- Anticorpos anti-NOR-90;
- Anticorpos anti-PM/Scl.
This painless and non-invasive examination evaluates the cuticle of the fingernails, using a microscope, in order to examine whether the small vessels in the region have a normal shape and quantity.
It is important to say that such a microvasculature is present in the whole body of the patient and, in the case of capillaroscopy, the examination is done in the cuticle region, because specifically in that place the visualization of the vessels is easier.
The removal of a small tissue sample for further laboratory analysis is also required in some cases.
Depending on the type of the disease or when it is suspected that internal organs have been affected, it is possible that the doctor recommends other tests, such as:
- Upper and lower gastrointestinal tests;
- Pulmonary function test;
- Computed tomography;
- Magnetic resonance imaging;
The diagnosis of scleroderma can be made by a general practitioner. However, there are several specialists who should be part of the patient’s routine as soon as the disease is detected, in order to monitor all affected areas. The list includes:
The multidisciplinary team can also count on the support of a dentist, psychologist, physiotherapist, nurse etc.
Like the vast majority of chronic diseases, scleroderma has no cure . However, in localized cases, which affect only the skin, there may be spontaneous regression over time, rendering the disease inactive. In systemic cases, the treatment only serves to relieve symptoms and / or delay the evolution of the disease.
For this, it is important that the patient is supported by a multidisciplinary team, constantly monitoring and following the treatment correctly.
Chronic patients should follow treatment according to their individual needs and other diverse aspects that involve their lifestyle. Medical recommendations also vary depending on symptoms and diagnosis. In addition, over time, it is possible for treatment to change depending on the course of the disease.
Commonly, the patient will have to use medications and, in some cases:
Physiotherapy and exercise
Joint problems can be alleviated through physical therapy. The practice helps in strengthening and increasing mobility, avoiding muscle contractures. Exercises such as walking or swimming can also be good allies to health, as long as they are performed in moderation, since patients with scleroderma tend to experience weakness and pain.
Considering the fact that the hands are the most affected limb in scleroderma cases, this specialty of occupational therapy can be of great help. This is because it acts in the maintenance of the upper limb and helps to avoid further complications, increasing the patient’s independence.
In cases of systemic sclerosis, in which the patient develops difficulty in swallowing ( dysphagia ), speech therapy is a great alternative. This treatment involves a series of exercises to improve muscle strength and maintain range of motion when swallowing.
The monitoring of a nutritionist or nutrologist is also essential in most cases. Through a specific diet, it is possible to mitigate and avoid some manifestations related to the disease, such as dysphagia, gastroesophageal reflux and hypertension. In addition, a balanced diet avoids the risk of heart, lung and kidney problems.
Another concern concerns malnutrition. As the gastrointestinal tract is affected in the vast majority of patients with systemic sclerosis, many begin to have difficulties in eating and suffer from weight loss. Thus, a diet based on the patient’s needs can prevent future problems.
As a last alternative in cases where the disease has generated more serious complications, it is possible that the patient needs surgeries that include:
- Amputation: when a digital ulcer, caused by Raynaud’s phenomenon, developed into gangrene.
- Lung transplantation: when the patient developed pulmonary arterial hypertension.
Drug treatment for people with scleroderma can vary widely, as the symptoms depend on the classification of the disease. Among the remedies commonly indicated are:
- Corticosteroids ( prednisone , BetaTrinta , Celestone , Bi-Profenid , Ketoprofen , Diprospan , Duoflam ): possess anti-inflammatory action;
- Non-steroidal anti-inflammatory drugs (NSAIDs) ( Aspirin , Naproxen, Ibuprofen , Nimesulide ): treat joint pain, etc .;
- Vasodilators (Diltiazem, Nifedipine): treat the symptoms of Raynaud’s phenomenon and hypertension;
- Immunosuppressants ( Methotrexate , Cyclophosphamide , Azathioprine ): act directly on the immune system, decreasing the inflammatory response;
- Angiotensin converting enzyme (ACE inhibitors) ( Lisinopril ): serve to treat high blood pressure;
- Selective serotonin reuptake inhibitors (Fluoxetine): used to treat depression;
- Antacids : fight heartburn and reflux.
In addition to all these classes of drugs, it is possible that the doctor also prescribes antibiotics in case of infections.
NEVER self-medicate or stop using a medication without first consulting a doctor. Only he will be able to tell which medication, dosage and duration of treatment is the most suitable for his specific case. The information contained in this website is only intended to inform, not in any way intended to replace the guidance of a specialist or serve as a recommendation for any type of treatment. Always follow the instructions on the package insert and, if symptoms persist, seek medical or pharmaceutical advice.
Scleroderma can cause some limitations in the patient’s life. However, living with the disease can be more peaceful if you adopt some measures that help to relieve the symptoms of the disease and improve your quality of life.
Take care of hands and feet
One of the most important requirements for the good living with the disease is to maintain special care for the hands and feet, since both are affected by scleroderma. The measures include:
- Keep the limbs warm with the help of gloves and socks, in order to avoid Raynaud’s symptoms;
- Moisturize the skin of your hands and feet daily, preferably more than 3 times a day;
- Exercise to maintain limb flexibility;
- Inspect your feet daily and seek medical help for any signs of alteration;
- Avoid wearing tight shoes and give preference to those that have a thicker sole – this will help keep you protected from the cold.
Maintain a healthy diet
A balanced and healthy diet is one of the biggest secrets to avoid and fight the problems related to scleroderma, besides helping the patient to maintain an adequate weight. Not to mention the benefits that good nutrition brings to the entire body.
So here is a list of the main nutrients and foods you should include in your diet:
- Calcium: important for bone health. It can be found in dairy products, fish, vegetables, seeds, nuts, dark green vegetables.
- Vitamin D: helps the body to absorb calcium. It can be found in eggs, butter, fish, seafood, liver.
- Iron: decreases the risk of anemia. It can be found in red meat, poultry, fish, eggs, dark green leafy vegetables.
- Omega 3: help protect the body from heart disease, in addition to reducing inflammation in arthritis. It can be found in fish, nuts, seeds (chia and flaxseed).
- Ginger: has anti-inflammatory and antioxidant action.
- Pineapple: in its fresh form, it has anti-inflammatory action and aids in the digestion of foods rich in protein.
- Cereals: Specifically in grains of barley, oats, rye and wheat, there is a fiber called beta-glucan, which is believed to be useful in the management of scleroderma.
What to avoid?
Patients suffering from heartburn and reflux should avoid citrus fruits, such as pineapple, lemon, strawberry etc. In addition, in general, foods high in fat and sugar need to be consumed in moderation, as they can have several negative health effects.
Avoid reflux episodes
Heartburn and reflux are often part of the daily life of people with scleroderma. The good news is that there are some simple tips to help you avoid this problem:
- Maintain an upright posture during and after meals;
- Eat several small meals a day;
- Avoid fatty foods and fried foods;
- Reduce your consumption of caffeine, alcohol and fizzy drinks;
- Eat a lighter meal in the evening;
- Avoid eating and drinking right before bed.
Dribbling the difficulty of swallowing
To combat difficulty swallowing, you must:
- Eat slowly and chew your food well;
- Allow enough time for meals;
- Prefer softer or pasty foods – if necessary, use the blender to prepare the food;
- Avoid eating meats, fibrous vegetables, nuts and seeds.
Join support groups
Diseases that impose changes in the patient’s lifestyle directly affect his emotional side. Meeting with people who have similar problems is one of the best ways to accept the condition and learn more about it.
There are several communities that aim to promote well-being and help to increase the quality of life of people with the disease, sharing information and, most legally, reporting real cases. In Brazil, there is the Brazilian Association of Patients with Systemic Sclerosis (ABRAPES), a “non-profit association aimed at raising awareness of the pathology and supporting scleroderma patients”.
Exercise your mind
One of the techniques that can bring more balance to your life is mindfulness , also known as mindfulness. It is a state of mind that aims to concentrate on what happens during the “here and now”. In other words, it is a practice that defends the awareness of what is happening around us in the present moment. And why is this important when living with scleroderma?
It is common for people with the disease to be constantly concerned about treatment and possible complications. Therefore, letting go of the past and the future can help control anxiety and stress, improving your emotional well-being.
Bet on makeup
Skin lesions should not be a cause for shame, but if you feel uncomfortable, makeup is a great ally to disguise the blemishes, especially those located on the face. A very useful technique is camouflage , capable of improving the appearance of the skin, minimizing or neutralizing discolorations and different marks.
The cosmetics market offers hundreds of makeup products, for the most diverse purposes. In the case of people with scleroderma, one of the best ways to soften the marks is with the use of colored concealers. They can be used to hide stains of different colors.
It is important, however, to always consult with a dermatologist before using any product on the skin.
- Avoid situations that increase fatigue. It is important to know your limits;
- Maintain good hygiene habits, especially of the feet, teeth, gums and skin;
- Do not smoke! The effects of smoking on blood circulation and lung function can be highly damaging;
- Share your feelings with friends and family. As well as seeking help from support groups, having the support of the people you love is essential and good for your emotional health.
One of the biggest doubts surrounding the disease is pregnancy: is it possible to have children after being diagnosed with scleroderma? The answer is yes!
If there is a desire to become pregnant, it is extremely important to discuss the intention with your doctor so that he can determine under what conditions this would be feasible, in addition to checking the need for changes in drug treatment.
However, it is important to know that women with scleroderma, especially the systemic type, may have a more complicated pregnancy, which includes the following risks:
- Spontaneous abortion;
- Premature birth and / or small baby;
- Pre-eclampsia (high blood pressure with protein in the urine) – especially if the patient has high blood pressure and / or kidney disease before becoming pregnant;
- Renal failure;
- Difficulty receiving injections of anesthesia – due to thickening of the skin or involvement of blood vessels;
- Difficulty receiving general anesthesia – due to limited mouth opening (microstomy).
Does scleroderma get worse during pregnancy?
This is another common question. The good news is that pregnancy is not usually a determining factor for the evolution of the disease, except in situations of recent onset or when there is kidney involvement.
In most cases, what can occur only is greater suffering in relation to one of the most common symptoms of pregnancy: heartburn. In the breastfeeding period, it is possible that the new mother perceives Raynaud’s symptoms in the breast region.
Since the disease has different forms and symptoms, the clinical course can be unpredictable. However, it is known that scleroderma usually progresses in the first five years, which is the most critical period for patients.
These cases in which the condition spread through the body and reached internal organs, can cause the patient’s death. Among the major causes of mortality related to scleroderma are pulmonary hypertension, pulmonary fibrosis and scleroderma renal crisis.
Living with a chronic disease is not always an easy task, especially when it is little known. Scleroderma can bring several limitations to the patient, but some tips and care help to improve their quality of life, making everything lighter.
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