Scleroderma (Systemic sclerosis)

What is scleroderma?

Scleroderma is a chronic disease, considered orphan or rare, which is included in the rheumatic diseases. Its low prevalence is the reason why it is considered rare. Thus, 5-12 cases per year are detected for every 1,000,000 people. It affects, according to some studies, 3 people per 10,000 inhabitants, being more frequent in women in a ratio of 4 to 1 (80% of affected people are women). It usually appears between 30 and 50 years of age, although it can appear at any age.

It is a disease that most commonly affects the skin, which becomes hardened, but the internal organs can also be seen.

There are several types of scleroderma:

• Localized scleroderma, which affects only the skin, and may extend to muscles, bones and joints.
• Systemic scleroderma, which affects the internal organs and, depending on the involvement of a smaller or larger extension of the skin, may be limited systemic scleroderma or diffuse systemic scleroderma.
• Scleroderma without scleroderma, in the sense that it does not affect the skin but the internal organs.

Scleroderma mostly affects the skin, hardening it.

Prognosis of the disease

Scleroderma usually affects the skin. However, it can also affect the internal organs. In such a case, it can become a serious disease.

In general, it is a disease that significantly impairs the patient’s quality of life, regardless of the involvement or severity of the symptoms suffered.

Symptoms of scleroderma

Scleroderma is affected at three levels and, according to this alteration, the different symptoms that may appear will be determined. The three levels of involvement are as follows:

• Vascular involvement.
• Inflammatory changes (fibrosis (increased collagen production), connective tissue disease).
• Autoimmune alterations: presence in serum of autoantibodies, i.e. substances that react against cells and proteins of the body.

Scleroderma mostly affects the skin, causing hardening. However, it can also sometimes affect the internal organs, so it can be a serious disease.

The symptoms are very variable depending on the patient and the involvement suffered, making it a very heterogeneous disease. The most common general manifestations, which cause a significant decrease in the patient’s quality of life, are: fatigue, arthralgias with or without inflammation, swelling in the hands, weight loss, myalgias with or without loss of strength.

Other symptoms of scleroderma are:

• Cutaneous manifestations, with hardening of the skin, calcium deposits, appearance of spider veins, changes in skin pigmentation (Raynaud’s phenomenon), etc. In addition, the changes that the skin undergoes in terms of thickening and hardening cause the physical appearance of the hands and face to change. This has a very important psychological impact, especially when the appearance of the patient’s face changes.
• Affection of the internal organs, being the most common:

1. Pulmonary involvement. It is very common, and usually manifests with pulmonary fibrosis and pulmonary hypertension. The patient usually begins to develop it before presenting symptoms, so it is very important to rule out visceral involvement early on by means of chest X-rays, chest CT or respiratory function tests. The patient, when symptomatic, usually presents with shortness of breath and cough on exertion. Sometimes these patients need oxygen cylinder in their daily life, and even a lung transplant.
2. Affection of the digestive system. Any part of the digestive system can be seen and it is also a frequent affectation. Above all it usually affects the esophagus, giving swallowing problems when it hardens. It also causes burning, reflux, intestinal involvement (constipation or, on the contrary, incontinence) or malabsorption of nutrients, which leads to weight loss and intestinal bacterial infections.
3. Cardiac involvement. The patient may suffer heart rhythm disturbances: tachycardia, arrhythmia and bundle branch block, as well as pericardial effusions and myocardial fibrosis.
4. Kidney involvement. It can cause arterial hypertension and renal malfunction, which can become very serious.

Other symptoms are repeated infections, as it is an autoimmune disease. These can be gastroenteritis, pneumonia, cystitis, etc. Psychiatric symptoms should also be noted, since as a chronic degenerative and disabling disease affects the work and social life of the person, who often suffer from anxiety and depression.

Medical tests for scleroderma

First of all it is necessary to distinguish an initial phase or pre-scleroderma, in which there are few symptoms, and an established phase where there are more symptoms and the internal organs are affected. Early diagnosis is very important and the main warning signs that can help to detect it are Raynaud’s phenomenon, edema in the fingers and positive ANAS. If these are detected, the family physician should refer the patient to a specialist in rheumatology, who will carry out diagnostic tests. Among them is a capillaroscopy and a complete blood test, including specific AK that will help the specialist to identify the disease. In the capillaroscopy the characteristic alterations of scleroderma are: megacapillaries, areas of capillary absence, capillary hemorrhage or branched capillaries.

In addition to these tests, other tests will be performed, depending on the patient’s symptoms and involvement. In case of interstitial lung involvement, chest X-rays, chest CT or respiratory function tests will be performed. If the patient suffers cardiac involvement, ECG, holter if there are alterations of the cardiac rhythm and echocardiogram will be performed. To study pulmonary hypertension, an echocardiogram with Doppler and respiratory function tests with CO diffusion will be performed. In case of renal involvement, blood pressure and blood and urine tests will be done periodically to detect increased creatinine, presence of thrombopenia, proteinuria or hemolysis. If there is intestinal involvement, esophageal manometry and an esophageal barium study will be performed.

What are the causes of scleroderma?

The cause of scleroderma is unknown. However, some current studies point to a multifactorial origin, where genetic and environmental factors play a role. It should be noted that it is an autoimmune disease, so it is the immune system itself that reacts against other parts of the body.

Can it be prevented?

Scleroderma cannot be prevented, as it is an autoimmune disease. However, the only thing that can be prevented is the progression of the symptoms of the disease. For this, early diagnosis and timely treatment will be very important.

Treatments for scleroderma

There is no treatment that cures scleroderma but, in recent years, many therapies have been shown to be effective in some manifestations of the disease, since each symptom requires specific monitoring and treatment.

Within the pharmacological treatment, three large groups of drugs are being used to address three of the most important alterations of the disease: vasodilators, immunosuppressants and anti-fibrotics. This is in addition to other treatments such as TENS, which can improve gastrointestinal symptoms, or stem cell therapy.

In addition to this, there are a series of measures that the patient should take on a daily basis, which will make life easier:

• Take care of the skin, moisturizing it daily and taking care of possible wounds and protecting it from the sun.
• Avoid the cold and use gloves.
• Avoid stress.
• Do not smoke.
• Be strict with oral hygiene and use special toothpaste for dry mouth.
• Perform muscle stretching and physiotherapy and rehabilitation exercises.
• Take anti-reflux measures, in case the patient suffers from it: avoid large meals, chew food well, avoid lying down until 2-3 hours after a meal and elevate the head of the bed.

Which specialist treats it?

The specialist who should treat scleroderma is the rheumatologist. The family physician may have some suspicion of the disease, after which he/she will refer the patient to the Rheumatologist, who will perform the relevant diagnostic tests and establish the best treatment.