Systemic lupus erythematosus

It is an autoimmune disease that causes inflammation ranging from skin and joints to affecting other organs, resulting in heterogeneous manifestations from mild skin disease to multi-organ failure. The global incidence ranges from 1.5 to 11 cases per 100,000 people per year due to differences in sex, ethnicity, and environmental factors.

Currently, antibodies that recognize different self-cellular structures have been identified, but the specific cause that triggers the production of these autoantibodies is unknown. Apparently, affected individuals may have a hereditary predisposition and develop the disease upon exposure to environmental factors that can trigger it. Among these possible triggers are:

  • Viral infections by cytomegalovirus, Epstein-Barr, retrovirus, or herpesvirus, among others.
  • Certain medications such as isoniazid, hydralazine, anticonvulsants, sulfasalazine, among others.
  • Exposure to sunlight.
  • Smoking and excessive alcohol consumption.
  • Industrial pollutants or solvents, silica.
  • Specific hormonal states such as puberty, pregnancy, or menopause.

Additionally, various factors that increase the risk of developing this condition have been described:

  • Gender: it is 4-12 times more common in women than in men.
  • Age: women of reproductive age, from 15 to 44 years old, are at higher risk of developing it, although it can occur at any age, including childhood.
  • Ethnicity: it is more common in individuals of specific ancestries, mainly African Americans, Latinos, Asians, and Native Americans, and tends to worsen more in these groups.

Symptoms

The symptoms of lupus vary widely among affected individuals, as they also depend on whether there is general involvement and/or specific organ involvement. Symptoms can be sudden or develop slowly, be mild or severe, temporary or permanent. In most cases, it is a mild condition characterized by episodes or flares after which symptoms improve or even disappear completely for a time. The most common symptoms include:

  • Fatigue and tiredness that does not improve 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 rash, or on other parts of the body.
  • Sunlight sensitivity leading to skin lesions.
  • Color changes in the fingers and toes to blue-purple, white, or red caused by cold and stress (Raynaud’s phenomenon).
  • Mouth sores and hair loss.

Additionally, other organs may be affected in more severe cases. The kidneys, triggering severe renal failure, which is one of the main causes of death in these patients. The central nervous system, causing headaches, dizziness, behavioral changes, vision problems, memory loss, disorientation, difficulty expressing thoughts, and even strokes or seizures. Blood and vasculature, causing anemia, clotting disorders, or inflammation of blood vessels. The lungs, leading to pleural inflammation making breathing difficult, even pneumonia or pulmonary hemorrhage. The heart, causing inflammation of the heart muscle, arteries, pericardium, and increasing the risk of cardiovascular disease and heart attack.

Prevention

There are no effective measures to prevent the disease, although there are recommendations aimed at avoiding or reducing the occurrence of new outbreaks, symptoms, and possible complications: avoiding prolonged sun exposure and therefore taking vitamin D supplements to prevent deficiency, quitting smoking and reducing alcohol consumption, exercising regularly, following a balanced diet low in fats, salt, and sugars, and rich in fiber, avoiding stress, and resting adequately by limiting work overload.

Number of observed variants

13.5 million variants

Number of risk loci

28 loci

Genes analyzed

ADO ANKRD27 ARHGAP15 C10orf105 C1QTNF12 CABP1 CACYBP CD58 CMC1 CTLA4 FCRL5 HMG20A IL12RB2 IL7R IQCN LRRC25 MYC NEMP2 NAB1 NR4A3 RCBTB1 SIRPD SLC45A1 SLC6A16 TM9SF2 TMEM86B TNIP2 TRAF3 YRDC

Bibliography

Barber MRW et al. Global epidemiology of systemic lupus erythematosus. Nat Rev Rheumatol. 2021 Sep;17(9):515-532.

Centers for Disease Control and Prevention [April 2022]

National Health Services [April 2022]

American College of Rheumatology [April 2022]

Choi MY et al.Preventing the development of SLE: identifying risk factors and proposing pathways for clinical care. Lupus. 2016 Jul;25(8):838-49.

Wang YF et al. Identification of 38 novel loci for systemic lupus erythematosus and genetic heterogeneity between ancestral groups. Nature Communications. 2021 Feb;12(1):772.

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