Mixed connective tissue disease, also known as MCTD or Sharp's syndrome, is a disease in which symptoms of several different diseases appear from the group of systemic connective tissue diseases, including lupus erythematosus and rheumatoid arthritis. What are the causes and symptoms of mixed connective tissue disease? What is the treatment?

Mixed Connective Tissue Disease - MCTD, or Sharp's syndrome, is a disease syndrome that consists of symptoms of several diseases from the group of systemic tissue diseases connective

  • Systemic Marrow Erythematosus (SLE)
  • systemic scleroderma
  • rheumatoid arthritis (RA
  • polymyositis
  • dermatomyositis

For this reason, some specialists still argue whether MCTD is a separate disease or the initial stage of certain systemic diseases.

It is difficult to estimate the incidence of mixed connective tissue disease. On the other hand, it was noted that it is most often diagnosed between the ages of 15 and 25, and women get sick more often than men.

Mixed connective tissue disease - causes

The causes of mixed connective tissue disease are not fully known. It is supposed to be an autoimmune disease, i.e. one in which the cells of the immune system attack the body.

MCTD may also have a genetic basis (family history of the disease supports this theory).

Mixed connective tissue disease - symptoms

  • Raynaud's phenomenon, i.e. paling, and sometimes even bluing, fingers and / or feet under the influence of various stimuli, e.g. cold, emotions
  • swelling of the fingers (also known as puffy fingers) or hardened swelling of the fingers (sausage fingers)
  • finger ulcers

The lesions are mainly located on the face and hands

  • hardening of the skin, most often of the face
  • butterfly erythema (as in the course of lupus erythematosus)
  • painful changes in the joints - usually the hands and feet. In the course of MCTD, the most characteristic change isJaccoud arthropathy , i.e. the ulnar deviation inmetacarpophalangeal joints and interphalangeal hyperextension in the hands
  • muscle aches
  • subcutaneous nodules resembling rheumatic nodules

In addition, the disease can lead to changes in internal systems and organs - the gastrointestinal tract (then there are swallowing disorders), the respiratory system (then the development of pleurisy, pulmonary fibrosis and pulmonary hypertension) and the nervous system (may lead to damage to the trigeminal nerve). Kidney disease is less common.

In addition, there are general symptoms such as fatigue, weakness, low-grade fever or fever, enlarged lymph nodes.

Mixed connective tissue disease - diagnosis

General blood tests are performed. MCTD may be indicated, among others, by leukopenia, which is a decreased number of white blood cells, increased ESR and increased levels of muscle enzymes. About half of the patients have rheumatoid factor, and most of them have hypergammaglobulinemia, i.e. an increase in the concentration of the blood plasma protein fraction (gamma-globulin fraction) above the upper limit of normal.

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However, the most characteristic of mixed connective tissue disease is the presence in the blood of antibodies against uridine-rich nuclear ribonucleoprotein (anti-U1 RNP).

If there are symptoms of internal organ involvement, additional tests are required. For example, if there are changes in the respiratory system, spirometry and plethysmography may be ordered. Echocardiography is performed to rule out pulmonary hypertension.

Mixed connective tissue disease - treatment

The patient is given (orally or intravenously) corticosteroids (usually encorton). The doses are high at first and then gradually tapered down.

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In addition, the patient takes other medications that support the treatment. For example, pain in joints and muscles is relieved by non-steroidal anti-inflammatory drugs. In turn, when the esophagus is disturbed, proton pump inhibitors are administered. However, in the case of pulmonary hypertension, vascular drugs are used.

Mixed connective tissue disease - prognosis

The disease is usually mild, and prognosis is good unless internal organs are affected. Otherwise, the prognosis is much worse. This is especially true of patients who develop pulmonary hypertension. It is a diseasebecause the most common cause of death of the sick.

About the authorMonika Majewska A journalist specializing in he alth issues, especially in the areas of medicine, he alth protection and he althy eating. Author of news, guides, interviews with experts and reports. Participant of the largest Polish National Medical Conference "Polish woman in Europe", organized by the "Journalists for He alth" Association, as well as specialist workshops and seminars for journalists organized by the Association.

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Category:

Immune system