28 diseases - Systemic lupus erythematosus

DNA test for genetic predisposition to systemic lupus erythematosus

Systemic lupus erythematosus (SLE, lupus, lupus) is a malady with a complex clinical performance, manifested by skin, heart, kidneys, lungs, joints, nervous system damage. The world incidence rate varies within the scope of 0.2-0.05% of the population.

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Systemic lupus erythematosus

SLE affects mainly young women: more than 70% of patients with a newly diagnosed diagnosis are of 18-35 age group. In 20% of cases, the diagnosis is established in childhood. The ratio of men and women is 1:11. Longevity of patients is significantly lower than the same in the population. In ten years after the diagnosis, 20% of patients die, in twenty years - about 40%.

Signs of malady are often nonspecific, which at first makes it difficult to diagnose. However, prompt treatment and constant monitoring of the patient's condition can significantly improve the patient's life quality and prevent development of serious, complicated maladies. Patients with SLE are allowed to have an active full-fledged life in case if they pay close attention to their health and receive adequate therapy.
Systemic lupus erythematosus: reasons and process of occurrence

Malady process is associated with an abnormal reaction of the immune system to micro damaging of body cells. For an unknown reason, the development of antibodies against the elements of its own connective tissue begins, and in all cases, the connective tissue structures of small vessels that provide nutrition and metabolism of the skin, kidneys and other important organs.

The risk factors for systemic lupus erythematosus are:

severe reactions of intolerance to medicines, including vaccine preparations;

excessive ultraviolet radiation;

intoxication (household, industrial);


hormone disruption;

severe malady or injury;

psychological stress;

inherited predisposition;

damaging exercise;

infectious agent.

Women should take into account that the period of pregnancy, which is associated with radical hormonal changes, increases the risk of SLE. In the patients with a previously diagnosed lupus erythematosus, pregnancy, as a rule, provokes an exacerbation of malady. Nevertheless, nowadays systemic lupus erythematosus is not considered as an absolute contraindication to conception and childbirth.

Correctly planned pregnancy and careful monitoring by specialists allows majority of women safely endure and give birth to a healthy baby. However, the frequency of miscarriages in women with lupus is about 20%. It should be taken into account when planning such an important event.

Genetic factor in the development of disease

The role of inherited predisposition in the development of SLE has been known for a long time. There are described some family cases, in which several relatives of the first, second and even third line suffered from this disease. In other cases, the presence of a close relative suffering from lupus does not practically change the risk of malady for other members of family. However, the situation is fundamentally different for identical twins: if the diagnosis of SLE is established for one of the twins, the likelihood of malady for the second one increases up to 45-50%.

Up to now, it is not completely known how genetic predisposition to the malady is realized. It is supposed that it can be connected with the coding of the process of apoptosis - the mechanism of destruction of own altered or damaged cells. As a result of a genetic defect, apoptosis becomes inadequate, and some of the remaining harmful substances damage the body tissues. An autoimmune reaction is a reaction to damage, which triggers a chain of pathological symptoms.

Systemic lupus erythematosus: symptoms and diagnosis

Systemic lupus erythematosus declares itself by a variety of symptoms that usually affect several important organs at once: the cause of such a vast pathological process is the characteristic lesion of connective tissue, the fibers of which present almost everywhere in the body.

Skin manifestations

Skin lesion— is one of the main and characteristic features of SLE. It is skin symptoms that often become the starting point in formulation of correct diagnosis.

  • Discoid lupus:
    it is characterized by the formation of reddish-cyanotic color convex scaly patches on skin.

  • Lupus erythema:
    rubefaction on face, neck, chest, in the area of knees and elbows. It is exactly erythema that forms a characteristic "butterfly" - a red spot on the nose and cheeks.

  • Alopecia:
    hair loss can be focal or generalized.

  • Vasculitis:
    it is presented by patches of different size and uneven color without any visible changes of surface of skin.

  • Painful ulcers on the mucous membranes:
    they appear in mouth, on lip borders, in vagina.

Symptoms are often exacerbated after exposure to the sun, so patients are strictly prohibited to take sunbathing and visit solarium. In some cases, SLE occurs with isolated skin symptoms without damage of other organs.

Joints damage

Systemic lupus erythematosus is characterized by involvement of the joints in the pathological process, while in some cases malady changes the configuration of the joints and disrupts their function, in others it has a temporary character without permanent damage to the joint structure. The most dangerous is aseptic necrosis (usually heads of the femur) and polyarthritis with deformation of small joints of hand.

Pulmonary involvement

Almost one third part of patients with SLE has pleurisy — an inflammation of the pleura (lungs serosa ). Pronounced pleurisy can cause pain connected with act of breathing, dyspnea, fever, weakness.

Heart and vessel damage
In case of SLE, the following heart maladies can be developed:
  • Pericarditis
    — inflammation of the outer shell of the heart (pericardium). Usually it does not show itself at all and is can be found out at inspection.

  • Endocarditis
    - phlogotic deformation of the inner shell of the heart (endocardium) with the formation of valvular defects. It rarely makes any inconveniences to patients.

  • Myocarditis
    — aseptic heart muscle myositis. Usually is a sign of severe lupus.

  • Atherosclerosis:
    develops in patients with SLE very early even in case of absence of concomitant obesity.

  • Raynaud's lupus-like syndrome:
    occurs when small vessels of the hand are affected and is manifested by numbness and a sense of tingling in the fingers.

Kidney damage

About half of patients with systemic lupus erythematosus suffer from lupus nephritis (lupus-nephritis). In a number of cases, patients do not make any complaints, however, in a laboratory study, protein is detected in urine. Other patients has glomerulonephritis, which is manifested by swellings, blood pressure rising, blood in urine, and progressive deterioration of general condition. In especially severe cases acute renal failure development is possible.

Neurologic signs
Systemic lupus erythematosus is characterized by:
  • migraine headaches that are not controlled by analgesics;

  • convulsive disorder: large and small convulsive seizures;

  • insults: with an erased or expanded clinic of cerebral circulation disorder;

  • neurogenic nature dysopsia;

  • neuropathy: manifested by pain, sensory decrement, sensation of "goosebumps," etc.

  • psychotic disorders: exaltation, hallucinatory inclusions, mental obscuration.

Lesion of abdominal cavity organs

SLE can cause a polyserositis — autoimmune inflammation of serous membranes of liver and spleen. The malady is manifested by pain in the projection of location of these organs (in the right and left hypochondrium, in lumbar zona).

Lesion of hemic system

Often a decrease in content of leukocytes, erythrocytes and platelets in blood is detected in patients. Hemoglobin indication is also reduced. Patients may feel signs of anemia in the form of weakness, dizziness, fatigue. Deterioration of coagulability may be manifested by increased bleeding.

To confirm the diagnosis, a general blood and urine test, a biochemical blood test, immunological tests for the detection of the antinuclear factor (ANF) and antinuclear antibodies (anti-DNA, anti-Sm, anti-Ro, etc.) are prescribed. If necessary, appoint U/S, X-ray, ECG, CT, etc.

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Annually lifes of thousands of people all over the world are being broken by a dangerous disease - systemic lupus erythematosus. Since diagnosis, patients are forced to spend a lifetime immense amount of money for therapy and treatment of severe complications.

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The current classification subdivides all cases of systemic lupus erythematosus into three groups characterized by features of course of disease.

Acute disease.

The least favorable option, fortunately, is rare enough. It is characterized by a rapid increase of damage to vital organs and systems. The periods of severe complications are replaced by a short-lived remission. Any slightest provoking factor can cause a new exacerbation.


Malady manifests itself less aggressively. The exacerbations are severe, but symptoms are of moderate intensity. Kidney damage is occured in 1-2 years after diagnosis.


The clinical picture is sluggish. There are usually two or three leading symptoms while the absence or weak manifestation of other manifestations. Kidney damage rarely reaches dangerous proportions.

Systemic lupus erythematosus is characterized by wave-like course with periods of exacerbation and remission.
Depending on the severity of the symptoms, there are defined two phases of disease:

Active phase:

factually, it is an exacerbation of malady. The severity of clinical picture is described by the following degrees of activity:

  • 1
  • 2
  • 3
Inactive phase:

skin rashes becomes pale and practically disappear, other manifestations of the disease also regress, even including kidney syndrome.

Systemic lupus erythematosus: treatment and prognosis

Treatment of systemic lupus erythematosus is aimed at stabilizing of condition and preventing irreversible damage to vital organs and systems (primarily kidneys and nervous system).

Non-drug treatment

For patients with SLE, a therapeutic correction of lifestyle and habits is important.

Patients are strongly recommended to:

  • give up a long exposure to the sun;

  • give up smoking, exclude alcohol;

  • increase stress resistance and avoid psycho-emotional overstrain;

  • treat cold and infectious-inflammatory diseases in time;

  • do physical exercises;

  • include in diet food rich in calcium and vitamin D;

  • avoid use of animal fats and simple carbohydrates;

  • not to take any medication without consulting a doctor;

  • be able to respond sensitively to changes in condition and report about them to a specialist in time.

Medical treatment

Treatment of patients with systemic lupus erythematosus is always individual. Therapy is selected basing on the leading symptoms of the disease and the patient's well-being.

Depending on the indications, the following drugs may be prescribed:

  1. 1

    are the basis for treatment of SLE. They suppress inflammation and autoimmune reactions. These drugs are classified as a hormone, and therefore require special care in choosing a regimen. High doses are prescribed for a period of severe exacerbation with symptoms that pose a threat for life. During remission period, most patients should have small, supporting doses of glucocorticoids.

  2. 2

    Immunosuppressants (cytotoxic drug):
    suppress production of immune cells, thereby reducing the intensity of autoimmune destruction of body tissues. Have a number of side effects, so require careful selection of dosage and close monitoring by the doctor.

  3. 3

    Antimalarial drugs (Plaquenil etc):
    have anti-inflammatory effect and correct the immune system activity. Sometimes can be used as the main drug for treatment of SLE.

  4. 4

    Nonsteroidal anti-inflammatory drugs (ibuprofen, aspirin, metamizole, indomethacin, diclofenac etc):
    are applied for fever, arthralgia, muscle damage.

  5. 5

    Homogeneous antibodies:
    suppress activity of B-lymphocytes, which are responsible for the synthesis of antibodies to their own tissues. Drugs of this group in many cases show high results at a relatively low (in comparison with glucocorticoids) incidence of complications and side effects.

Treatment of infectious diseases in SLE always requires special care, since the appointment of antibiotics often provokes an exacerbation of disease.


Sometimes acute lupus conditions require special measures aimed at eliminating the threat to life. In these cases, plasmapheresis can be used - it is hardware purification of blood from pathological protein molecules that present a danger to kidney function.


There are no special SLE preventive measures.

The following recommendations can help to low risk of malady:

Adequate regime of day with harmonious alternation of work and rest.
Avoiding of stress effects, including physical overloads.
Abandonment of bad habits.
Reasonable physical activity.
Infectious and other diseases timely treatment.
Periodic medical examinations.
Your future in your hands!

Understanding of genetic predisposition to lupus can be a valuable diagnostic and preventive tool for a specialist. The results of DNA test will help to make an individual plan of preventive measures and in case of suspicious symptoms to put a correct diagnosis and begin effective therapy in time.

Don’t wait for illness! Make DNA test for a genetic predisposition to systemic lupus erythematosus: start preventive measures and treatment as early as possible.