Systemic Lupus Erythematosus is a chronic multisystemic autoimmune disease of unknown cause. The most prominent feature of this disease is the onset of immunologic abnormalities, especially the production of antinuclear antibodies. These antibodies chase for nuclear and cytoplasmatic antigens, which causes multisystem inflammation and protean clinical manifestations, among other symptoms. Although the dermatologic manifestation is the most representative feature, this disorder can affect any tissue or system in a wide range of intensity, causing from mild joint and skin involvement to life-threatening renal, hematologic and nervous system involvement. The mode of inheritance varies from autosomal dominant to recessive.
The Igenomix Systemic Lupus Erythematosus Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of arthritis ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
- The Igenomix Systemic Lupus Erythematosus Precision Panel is indicated for those patients with a clinical diagnosis or suspicion presenting with or without the following manifestations:
- Arthritis and arthralgias
- Facial eruption
- Cardiac involvement: Pericarditis and pericardial effusion.
- Vascular manifestations: Erythroderma, vasculitis, venous thrombotic event, Raynaud phenomenon.
- Gastrointestinal involvement: esophagitis, pancreatitis, peritonitis.
- Pulmonary involvement: pleuritis, pneumonitis, interstitial lung disease, alveolar haemorrhage.
- Neurologic involvement: Stroke, seizures, cognitive dysfunction, peripheral neuropathies.
- Hematologic abnormalities: Anemia of chronic disease, leukopenia, thrombocytopenia.
- Ophthalmologic involvement: Sjögren’s Syndrome, retinal vasculopathy, scleritis.
- Osteoporosis and osteonecrosis.
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of multidisciplinary treatment including mainly pharmacologic treatment with hydroxychloroquine or chloroquine to relief constitutional symptoms, musculoskeletal manifestations and mucocutaneous manifestations. High doses of systemic glucocorticoids (such as methylprednisolone) can be considered as well if secondary manifestations are life-threatening.
- Periodic follow up with cardiologist, rheumatologist, ophthalmologist and dermatologist.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
- Improvement of delineation of genotype-phenotype correlation.
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