Systemic scleroderma

Systemic scleroderma is a multi–organ disease based on immune disorders and vasospastic vascular reactions of the Raynaud's phenomenon type, accompanied by activation of fibrosis and excessive deposition of extracellular matrix components (collagen) in tissues and organs.

The incidence of systemic scleroderma is 3-20 cases per 1 million population per year. Women are more likely to suffer from scleroderma (ratio 5-7:1) with a debut at the age of 30-60 years.

Clinical manifestations

Scleredema (swelling of the hands) – an increase in the mass of soft tissues of the fingers due to swelling of the skin, accompanied by a decrease in the severity of the skin pattern and smoothing of skin folds.

Sclerodactyly – compaction of the skin of the fingers distal to the metacarpal phalangeal joints, flexion contractures of the metacarpal phalangeal joints due to periarticular fibrosis, a decrease in the volume of soft tissues of the terminal phalanges, a limitation of the volume of movements and the compression force of the hands.

Digital scars and ulcers – located in the area of the distal phalanx or proximal interphalangeal joint scarring of the skin or defects resulting from ischemia, and not trauma or other exogenous causes.

Raynaud's phenomenon – episodes of transient digital ischemia due to vasoconstriction of digital arteries, precapillary arterioles and cutaneous arteriovenous shunts under the influence of cold temperature and emotional stress.

Telangiectasias are visible blotchy-dilated superficial blood vessels that disappear when pressed and slowly fill up when the pressure decreases. Telangiectasia in systemic scleroderma is rounded, well separated from each other and can be localized both on the skin and on the mucous membranes.

The symptom of the "pouch" is the narrowing of the mouth opening with the formation of deep wrinkles around it.

The presence of a triad – Raynaud's phenomenon, swelling of the hands and a positive test for ANF – serves as the basis for referring the patient to a consultation with a rheumatologist. 

Clinical forms

The diffuse form has an acute onset and a rapidly progressive course. The skin lesion begins with the fingers and spreads above the elbow and knee joints, capturing the skin of the face, chest, abdomen. In the debut – often arthritis, myositis, fever and significant weight loss. Vital organs are involved early: heart, lungs, kidneys and gastrointestinal tract. The detection of antibodies to topoisomerase I (Scl-70) is characteristic.

The limited form is manifested by Raynaud's phenomenon, and the first clinical signs of skin lesions (in the hands, feet and face) appear on average 5 years after the onset of Raynaud's phenomenon. Ischemic vascular disorders on the fingers predominate (scars and ulceration, a decrease in the volume of soft tissues of the distal phalanges). The sclerotic lesion of the internal organs is moderately pronounced, in about 6-10% of cases pulmonary arterial hypertension is detected. The detection of anticentromeric antibodies is characteristic. 

Visceral form – the disease has all the characteristic manifestations, except for skin compaction. The most common manifestations include Raynaud's phenomenon, fibrosing process in the lungs and heart damage.

Juvenile systemic scleroderma – about 10% get sick in childhood. In children, Raynaud's phenomenon and damage to internal organs are less common, skin lesions are often represented by focal or linear lesions, hemiforms. Immunological markers specific for systemic scleroderma are found only in half of patients. 

A cross form in which a patient with systemic scleroderma simultaneously has signs of another rheumatic disease.

Flow options

Acute – the development of generalized fibrosis of the skin and internal organs in the first 1-2 years from the onset of the disease, quickly leading to organ failure (lungs, kidneys, heart, gastrointestinal tract).

Subacute – moderate progression of the disease with signs of immune inflammation (dense edema of the skin, myositis, arthritis), cross-forms are not uncommon.

Chronic – with a predominance of vascular pathology, an increase in peripheral ischemic disorders (ulcers, necrosis), moderate skin manifestations (sclerodactyly, "sclerodermic" face) and visceral pathology (damage to the gastrointestinal tract, interstitial lung damage, pulmonary arterial hypertension).

Research methods

Capillaroscopy is a non–invasive method of visual examination of capillaries. The object of the study is the capillaries of papillary dermis papillae. Signs of microangiopathy: changes in capillary density, capillary expansion, avascular areas, microhemorrhages, neoangiogenesis and disorganization of the architectonics of the capillary network of the nail bed.

Immunological analysis of blood.

In order to exclude lesions of internal organs,:

• computed tomography of the lungs,
• echocardiography,
• daily ECG monitoring,
• spirometry,
• radiography of the upper digestive tract with barium,
• esophagogastroduodenoscopy.

Treatment

Depending on the severity of the condition, treatment is selected individually. The therapy is based on cytostatics and drugs that improve peripheral blood supply.