Systemic lupus erythematosus (SLE) is a chronic autoimmune disease affecting various organs and tissues, leading to inflammation and symptoms such as joint pain, skin rashes, and fatigue. Treatment may include medications to control inflammation, manage symptoms, and prevent complications. The assessment of the Polygenic Risk Score for systemic lupus erythematosus is based on the examination of 28 gene polymorphisms.
Genetic testing for systemic lupus erythematosus is included along with 12 other diseases in the Genetic Screening for Immune Diseases, Polygenic Risk Score.
Causes and non-genetic risk factors
The presence of antibodies that recognize different cellular structures has been identified, but the specific cause that triggers the production of these autoantibodies is unknown. Affected individuals would have a hereditary predisposition and would develop the disease when they come into contact with environmental factors that may trigger it. Among these possible triggers would be:
- Viral infections by cytomegalovirus, Epstein-Barr, retrovirus, or herpesvirus, among others
- Certain medications include isoniazid, hydralazine, anticonvulsants, and sulfasalazine
- Exposure to sunlight
- Smoking and excessive alcohol consumption
- Industrial pollutants or solvents, silica
- Specific hormonal states such as puberty, pregnancy, or menopause
In addition, different conditioning factors have been described that increase the risk of developing this condition:
- Gender: it is 4-12 times more frequent in females than in males
- Age: women of reproductive age from 15 to 44 years are at higher risk of presenting it. However, it can occur at any age, including childhood
- Ethnicity: it is more common in individuals with specific ancestries, mainly African Americans, Latinos, Asians, and Indo-Americans, and tends to worsen to a greater extent in these groups
Symptoms
Lupus symptoms vary widely among affected individuals, depending on whether there is general and/or organ-specific involvement. They may be sudden or develop slowly, be mild or severe, temporary or permanent. In most cases, it is a mild condition characterized by episodes or outbreaks after which the manifestations improve or even disappear for some time. The most frequent symptoms consist of:
- Fatigue and tiredness that do not disappear with rest
- Fever and muscle pain
- Joint pain accompanied by swelling and stiffness
- A butterfly-shaped rash on the face covering the nose and cheeks, known as malar erythema, or over the rest of the body
- Sensitivity to sunlight leads to the appearance of skin lesions
- Color changes in the fingers and toes to violet-blue, white, or red are caused by cold and stress (Raynaud's phenomenon)
- Oral sores and hair loss
In addition, other organs may be affected in the most severe cases. The kidneys trigger severe renal failure, which is one of the leading causes of death in these patients. The central nervous system causes headaches, dizziness, behavioral changes, vision problems, memory loss, disorientation, difficulties in expressing thoughts, and even strokes or seizures. Blood and vasculature, causing anemia, alterations in coagulation, or inflammation of the blood vessels. Lungs, favoring inflammation of the pleura, making breathing difficult, even pneumonia or pulmonary bleeding. Heart, causing inflammation of the heart muscle, arteries, and pericardium, increasing the risk of cardiovascular disease and infarction.
Prevention
There are no effective measures available to prevent the disease. However, there are indeed recommendations aimed at avoiding or reducing the appearance of new outbreaks, symptoms, and possible complications: avoid prolonged exposure to the sun and therefore receive vitamin D supplements to prevent its deficiency, stop smoking and reduce alcohol consumption, do regular physical exercise, follow a balanced diet low in fat, salt, sugars and rich in fiber, avoid stress, and rest adequately by limiting work overload.
