Unlocking the Genetic Secrets: Systemic Lupus Erythematosus Susceptibility

Short answer: No genetic test can diagnose lupus, but research has identified many genes and regions linked to lupus susceptibility. Doctors diagnose systemic lupus erythematosus (SLE) from clinical findings, lab tests and your history. The criteria described below are older; newer 2019 classification criteria now exist.

Systemic lupus erythematosus (SLE) is an autoimmune disease that affects multiple organs and systems in the body. It is characterized by the production of autoantibodies, which attack healthy tissue, leading to inflammation and damage. The complexity of SLE makes it challenging to diagnose and treat, but recent advancements in genetic testing have begun to unravel the mysteries of this elusive disease. In this article, we will explore the current understanding of SLE, its diagnosis, and how genetic testing can be used to identify susceptibility and improve patient care.

Understanding Systemic Lupus Erythematosus

SLE is a chronic, relapsing-remitting autoimmune disease that predominantly affects women of childbearing age. The exact cause of SLE remains unknown, but it is believed to result from a combination of genetic, environmental, and hormonal factors. The disease can manifest in various ways, ranging from mild skin rashes to life-threatening organ damage.

Recent studies have shed light on the genetic basis of SLE, revealing numerous susceptibility genes and loci associated with the disease. For example, a genome-wide association study identified three novel genetic risk factors for steroid-associated osteonecrosis in SLE patients. Additionally, research on abnormal B cell development in SLE has provided valuable insights into the genetic underpinnings of the disease.

Diagnosing Systemic Lupus Erythematosus

Diagnosing SLE can be challenging due to its diverse clinical presentations and the absence of a single diagnostic test. Instead, clinicians rely on a combination of clinical findings, laboratory tests, and patient history to make a diagnosis. The American College of Rheumatology has established a set of 11 criteria for SLE diagnosis, with a patient needing to meet at least four of these criteria to be diagnosed with the disease.

Note: The criteria above are the older American College of Rheumatology criteria. The 2019 European League Against Rheumatism and American College of Rheumatology classification criteria for SLE are newer.

However, the diagnostic process can be complicated by the presence of infectious complications, as highlighted in a case report of a 12-year-old girl with SLE presenting with infectious joint involvement. This emphasizes the importance of considering infectious complications in the diagnostic process for lupus patients.

Genetic Testing for SLE Susceptibility

Identifying Genetic Risk Factors

Genetic testing can help identify individuals at risk for developing SLE by detecting specific genetic variants associated with the disease. By understanding a person's genetic predisposition, healthcare providers can implement preventive measures and closely monitor patients for early signs of SLE. Additionally, genetic testing can also help differentiate between SLE and other autoimmune diseases with similar symptoms, leading to more accurate diagnoses and targeted treatment plans.

Genetics and Treatment

Research into genes linked to lupus is helping scientists understand the disease and explore more personalized treatments. Specific genetic tests can already help doctors choose an appropriate starting dose of medicines such as azathioprine, helping reduce the risk of serious side effects (CPIC guideline).

Improving Prognosis and Quality of Life

Early detection and intervention are crucial in managing SLE, as they can help prevent or minimize organ damage and improve long-term prognosis. Genetic findings about lupus are research tools. They cannot diagnose lupus or predict who will develop it, so see a rheumatologist if you have symptoms.

Conclusion

Systemic lupus erythematosus is a complex and often challenging disease to diagnose and treat. Research into lupus genes is giving scientists valuable insight into its causes and may lead to more effective, targeted therapies, while drug specific tests such as those for azathioprine already help doctors choose safer starting doses.

Related Articles

• Systemic Lupus Erythematosus: Genetic Testing: what genetic testing can and cannot offer.
• Discoid Lupus Rash: a form of lupus that mainly affects the skin.
• Autoimmune Disease, Susceptibility to, 6: a broader look at autoimmune conditions.

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Frequently Asked Questions About Systemic Lupus Erythematosus Susceptibility

What is systemic lupus erythematosus (SLE)?

SLE is an autoimmune disease that affects multiple organs and systems. The immune system makes autoantibodies that attack healthy tissue, which leads to inflammation and damage.

What causes lupus?

The exact cause is unknown. It is believed to result from a combination of genetic, environmental and hormonal factors.

How is lupus diagnosed?

There is no single diagnostic test. Doctors use a combination of clinical findings, laboratory tests and your history. Classification criteria help guide this, and newer 2019 European League Against Rheumatism and American College of Rheumatology criteria now exist.

Can genetic testing diagnose lupus or show my risk?

No. Studies have found many susceptibility genes and regions, including new risk factors for steroid associated osteonecrosis in people with lupus, but these are research findings and not a diagnostic test. A rheumatologist can explain what they mean for you.

Who is most affected by lupus?

SLE is a chronic, relapsing and remitting disease that mainly affects women of childbearing age. It can range from mild skin rashes to life threatening organ damage.

Does Sequencing test for lupus?

No test, including ours, can diagnose lupus. Sequencing's whole genome sequencing reads 100% of your DNA, so your results can be reviewed for variants that research links to lupus risk. Bring any result to a rheumatologist or genetic counselor.

References

1. Suetsugu H, Kim K, Yamamoto T, et al. Novel susceptibility loci for steroid-associated osteonecrosis of the femoral head in systemic lupus erythematosus. Hum Mol Genet. 2022;31(7):1082-1095. doi:10.1093/hmg/ddab306
2. Karrar S, Cunninghame Graham D. Abnormal B cell development in systemic lupus erythematosus: what the genetics tell us. Arthritis Rheumatol. 2018;70(4):496-507. doi:10.1002/art.40396
3. Hadef D, Salhi B, Haddadi M, et al. Systemic lupus erythematosus and infectious complications: a pediatric case report. Rheumatology. 2022;61(Suppl 2). doi:10.1093/rheumatology/keac496.087
4. Aringer M, Costenbader K, Daikh D, et al. 2019 European League Against Rheumatism/American College of Rheumatology classification criteria for systemic lupus erythematosus. Arthritis Rheumatol. 2019;71(9):1400-1412. doi:10.1002/art.40930

This article is for education and is not a substitute for professional medical advice, diagnosis, or treatment. Talk to a qualified healthcare provider about your own health.