Systemic scleroderma

Scleroderma is a systemic autoimmune disease of the connective tissue (collagenosis) that has a chronic progressive character and severely limits the patient to life. It first affects the skin and the musculoskeletal system, and later the internal organs. Ethiology is unknown. It mainly affects young women. The effect of specific autoantibodies is to fibrotise both peripheneal and visceral vessels.

Classification
At least acrosclerosis (from metacarpophalange joints distal) must be present to confirm the diagnosis. We recognize the milder form localized and the diffusion form.

Sclerodermia circumscripta


Localized form, organ involvement tends to be minimal, mainly affecting the skin and in localization distal from the elbows, distal from the knees, face and neckline. One type is morpheus. It is a coin-sized bearing, ivory in colour with a purple hem. It occurs anywhere on the skin.

Sclerodermia diffusa
A diffuse form, a very progressive extensive disability of the skin and organs, especially the oesophagus and lungs.

CREST syndroma
There is a syndrome where this set of symptoms is pooled:

Sine sclerodermia
There are no typical skin manifestations, on the contrary, changes in internal organs are expressed, and autoantibodies are also present.

Overlapping syndromes
In addition to the criteria for scleroderma, the criteria for other systemic autoimmune diseases, typically systemic lupus erythematosus and rheumatoid arthritis, are also met.

Clinical picture
In the initial stages, the manifestations can be very varied. General symptoms (loss of weight, tiredness, reactive depression) appear. At the same time, changes are erupting in specific bodies. As a rule, skin changes dominate, but different combinations of organ damage occur within each type of the disease. The order of their onset is variable (sometimes the disease starts with skin symptoms, sometimes with changes in internal organs and skin changes occur later or not at all).

Vascular changes
They are the basis of the Raynaud phenomenon - ischemia of both upper and lower limbs, ulceration to gangrene with the need for amputation of finger cells. Small blood vessels are also affected - it can be examined by capillaroscopy of the nail wall (finding: disordered extended capillaries, avascular zones).

Skin involvement
Skin changes usually start on the fingers of the upper limbs as skin atrophy and tissue swelling that expands proximately, followed by sclerodermic thickening, the skin is stiff and shiny. Typical is a masked face with radial grooves around the mouth.

GIT
Disease of the oesophagus (distatic 2/3 of the oesophagus - smooth muscle), manifests as dysphagia, regurgitation, pyrosis, which progresses into erosive esophagitis, fusions and strictures (surgery required). Both small and large intestines are uncommon, with bloating, convulsions, diarrhoea and malabsorption.

Muskuloskeletal system
Symmetrical non-erosive polyarthritis (arthralgia, morning stiffness), tendon and articular sheath involvement are present.

Lungs
Interstitial lung processes (autoimmune alveolitis), then pulmonary fibrosis, which leads to pulmonary hypertension and right-sided heart failure (the most common cause of death in scleroderma patients). Initial manifestations tend to be shortness of breath and dry listening phenomena. The only therapy for advanced pulmonary fibrosis is a lung transplant.

Heart
Myocardial inefficiency, palpitations, rhythm disturbance, shortness of breath, rarely pericarditis.

Kidney
They tend to be affected less frequently, sclerodermic renal crisis = very rapidly progressing oliguria leading to kidney failure.

Laboratory finding
Typical findings of autoantibodies are: In addition, thrombocytopenia based on autoimmune process, autoimmune underlying anaemia (normocyte, normochrome) or chronic disease anaemia (microcyte hypochrome) are present.
 * antinuclear antibodies 70–90 % of the time;
 * anticentromer antibodies – in the limiting form (approximately 70%);
 * anti-DNA topoisomerase 1 (anti-Scl-70) antibodies - in 40% of patients affected by diffusion.

Therapy
There is no causal therapy, only symptomatic:
 * in the edematous stage of skin manifestations - corticosteroids, D-penicillamine;
 * interstitial lung processes - combination of cyclophosphamide and corticoids;
 * renal crisis - ACE inhibitors;
 * Raynaud's phenomenon - calcium channel blockers, pentoxyphilin;
 * pulmonary hypertension - vasodilators.