Scleroderma: a chronic, autoimmune, rare disease

On World Scleroderma Day, Dr. Noemí Garrido Puñal, a rheumatologist specialized in this disease and member of Top Doctors, explains the basic aspects of scleroderma in order to better understand how it affects people who suffer from it.

What is Scleroderma?

It is a disease of unknown cause that is characterized by the involvement of the skin and subcutaneous cellular tissue, causing a decrease in skin elasticity and subsequent fibrosis. There are several types depending on whether the involvement is only cutaneous or systemic. The cutaneous form is known as morphea and is not accompanied by internal organ involvement.

Systemic forms are divided into two types:

  • Limited systemic scleroderma: Cutaneous involvement is limited to parts distal to the elbows and knees, and on the other hand, the face is usually associated with anti-centromere antibodies.
  • Diffuse systemic scleroderma: Cutaneous involvement extends above the elbows and is usually associated with anti-Scl70 antibodies.

What are the causes of this disease?

Scleroderma is a disease of unknown cause, involving infectious and environmental agents over a genetic predisposition. As for the pathogenesis, although unknown, it is known the existence of a primary endothelial damage and in the function of fibroblasts with the release of various cytokines and the deposition of collagen in places other than normal, which would produce a vascular alteration at all levels from capillaries to large vessels.

How does it manifest itself?

The most visible form of the disease is the cutaneous form, which suffers from decreased skin elasticity, Raynaud’s phenomenon in hands and feet, and depending on the evolution, trophic lesions with ischemic ulcers in distal areas of the fingers.

Although internal organ involvement can be seen in both limited and diffuse forms, it has a different distribution:

  • Limited systemic scleroderma: It is more frequently associated with cardiopulmonary vessel involvement originating pulmonary hypertension (PHT) in late evolutionary stages, usually associated with calcinosis in fingers, telangiectaisas and esophageal involvement (formerly called CREST syndrome: Cacinosis, Raynaud’s, Sclerodactyly, Esophageal disorders, telangiectasias).
  • Diffuse systemic scleroderma: It is most frequently associated with diffuse pulmonary parenchymal involvement, increased risk of renal crisis that usually occurs in the early years of the disease, and increased esophageal and cardiac involvement.
See also  Hypertension affects 40% of adult Spaniards

Common manifestations

  • Renal: Severe involvement occurs with malignant arterial hypertension, proteinuria, oliguria and renal failure. Until a few years ago it was the leading cause of death in patients with scleroderma; fortunately, since the use of ACE inhibitors, mortality due to this cause has decreased considerably. When it occurs, it usually occurs in diffuse forms and in the first 4 years of the disease.
  • Gastrointestinal tract: Esophageal motility disorder is produced by smooth muscle involvement that manifests as dysphagia, especially for solids, reflux and slowing of motility. It can also affect the lower tract with diarrhea and even fecal incontinence; and the duodenum causing malabsorption with malnutrition and episodes of abdominal distension.
  • Heart: The cardiac manifestation is also more frequent in diffuse forms and although the most frequent is pericarditis and pericardial effusion, this in many cases is asymptomatic. It can also cause arrhythmias and myocardial and myocardial fibrosis. It is usually of greater severity in males and mortality is greater than 60-70% of cases of myocardial involvement.
  • Pulmonary: Pulmonary involvement affects 70% of patients with synthetic scleordermia, it can affect the pulmonary interstitium in the form of interstitial pneumopathy or vascular in the form of PHT. The most frequent clinical manifestation is dyspnea, dry cough and the auscultation may show the presence of detachment crackles or dry crackles. PHT is usually associated more with the limited form and usually appears in late stages of the disease, it is also manifested by dyspnea on moderate exertion and exercise intolerance.
  • Musculoskeletal: Arthritis is rare, but arthromyalgia is very frequent in early stages, prior to cutaneous fibrosis there is a painful indurated edema in hands and feet, and with the subsequent fibrosis there is a loss of elasticity and the ability to flex the joints, with friction lesions in the tendons (more characteristic in the diffuse form). And when Raynaud’s and digital ischemia is significant, bone resorption of the distal phalanges may be observed.
See also  Dr. Natalia Ribé raffles products and aesthetic treatments on the eighth anniversary of her clinic

How is it diagnosed?

The diagnosis is clinical and accompanied by the presence of autoantibodies, although the absence of these does not rule it out. A combative biopsy or alterations in the distal capillaries assessed by capillaroscopy may be helpful. It is very important to know the state of the internal organs at the time of diagnosis.

Among the complementary tests to be requested are the following:

  • Analytical: Complete blood count, general biochemistry with renal function. Urine systemic. Autoimmunity: Antitopoisomerase I antibodies (Anti-Scl-70), anticentromere, ANA, Anti-DNA, ENA.

In addition to chest Rx Pay L, electrocardiogram, spirometry and DLCO diffusion test, high resolution chest CT, since up to 20-40% of the initial interstitial pulmonary involvement occurs with a normal chest Rx; transitogastroesophageal and esophagogastric endoscopy, and depending on the clinic: colonoscopy, echocardiogram, renal echo-Doppler, etc.

Who is affected?

Scleroderma affects both sexes but is more frequent in women with a ratio of 4 to 1, and the age at which it usually appears is between 30 and 50 years old, although it can appear at any age. Likewise, this disease affects men more violently.

It is estimated that 3 out of every 10,000 inhabitants suffer from Scleroderma, due to this low percentage affecting the population it is considered a rare disease. The Spanish Scleroderma Association currently has 570 members, 360 of them suffer from this disease, that is, 10% of those affected in Spain. In Spain, it is estimated that 3,600 people suffer from this disease and in the world there are 2.5 million people.

How is it treated?

There is no specific and curative treatment for this pathology, the most important thing is to identify the internal manifestations early and treat them before they become irreversible. For this reason, it is very important to routinely study them and treatment must be individualized according to the disease:

  • Cutaneous manifestations: there is no treatment that has been shown so far to be effective in slowing or reversing cutaneous fibrosis, however, some studies, although without statistically significant data, found improvement in cutaneous evolution if both methotrexate and mycophenolate are used in initial stages.
  • Pruritus: Intense pruritus is often a frequent problem in patients with scleroderma. The indicated measures are to avoid abrasive soaps, not to be in contact with water for a long time, good hydration and in very severe cases creams with capsaicin or antihistamines. And although they do not give very good results, low doses of oral steroids can also be used (topical ones do not usually work).
  • Raynaud’s syndrome: General measures should be taken avoiding cold, coffee, stimulants, beta-blockers, avoiding sudden changes in temperature. Depending on the severity, calcium antagonists, losartan, fluoxetine, sindernafil should also be taken, starting with small doses and increasing as needed. In severe cases with digital ischemia, iloprost IV should be taken and in case of recurrent ulcers, bosentan (antiendotline1).
  • Gastrointestinal: Proton pump inhibitors, metoclopramide or cisapride or erythromycin are recommended for hypomotility, antibiotics such as amoxicline 500 mg every 8h,
    ciprofloxacin, tripetroprim, etc. for malabsorption or metronidazole in cases of persistent diarrhea.
  • Pulmonary: If there is interstitial pulmonary involvement, the use of steroids and immunosuppressants such as cyclophosphamide, azathioprine, and in refractory cases imatinib, rituxima, also in some cases autologous bone marrow transplantation has been used (but the results are not conclusive) and sometimes lung transplantation.