Lupus Awareness Day: what you should know about it
Lupus, or more properly Systemic Lupus Erythematosus (SLE), is a chronic autoimmune disease responsible for inflammation of organs and tissues of various parts of the human body
What is Lupus?
Systemic Lupus Erythematosus, or more simply Lupus, is a chronic autoimmune disease of an inflammatory nature. More frequent in women, Lupus can affect various anatomical districts of the human body: in the mildest forms, it merely causes inflammation of the skin and joints; in the moderate forms, it extends to the blood, heart, lungs and kidneys; finally, in the most severe forms, it causes damage to organs already affected and, in addition, affects the nervous system (brain in particular).
Autoimmune diseases are particularly morbid conditions, characterized by an exaggerated and improper response of the immune system that recognizes as foreign some organs and/or tissues of the human body causing more or less serious damage depending on the case.
The term "Lupus" derives from the Latin word "Lupus", which means, as is easily intuitable, "wolf".
Its use to indicate SLE is explained by the fact that doctors in the past compared a symptom of the condition - a particular facial rash called Lupus vulgaris - to the effects produced on the face by a wolf bite.
What are the symptoms of Lupus?
Lupus symptoms vary widely among subjects. They may occur suddenly with fever giving the impression of a sudden infection or they may develop gradually over months or years, with seizures (exacerbations) alternating with periods when symptoms are absent or minimal.
Most people who suffer from Lupus show mild symptoms that mainly affect the skin and joints but the symptoms can affect any organ system: intermittent joint pain (arthralgia) to sudden inflammation of several joints (acute polyarthritis), appear in about 90% of subjects and may be present for years before other symptoms appear, rashes include a butterfly-shaped erythema on the nose and cheeks, breathing difficulties, heart problems, renal failure, lymphadenopathy, splenomegaly, decreased hematocrit, nausea, diarrhea, Raynaud's phenomenon (which causes pale or bluish toes and fingers when exposed to cold), in the most serious cases the central nervous system may also be involved.
Causes of Lupus
The precise causes of Lupus or, rather, the immune abnormality leading to Lupus are unknown.
Based on several scientific studies, however, the medical community is inclined to think that this systemic autoimmune condition has a multifactorial origin, i.e. it is the result of several concomitant factors.
According to the most widely accepted theories, the immune defect responsible for Lupus is triggered by genetic and inherited factors combined with hormonal and/or environmental factors.
About Genetics and Lupus
Lupus is a chronic autoimmune disease that causes inflammation in connective tissues but the symptoms can involve different tissues. There are two types of Lupus, SLE (Systemic Lupus Erythematosus) and Lupus non Systemic, the difference is that in the second one the symptoms are only cutaneous and it affects the 5% of people with Lupus.
In lupus, the responsibles for systemic inflammation are a series of autoantibodies having the particularity of attacking proteins and other molecules based in the cell nucleus or in the cytoplasm.
Lupus can be inherited, there is some evidence that children born in families with Lupus history have a percentage from 5 to 12% to be affected by Lupus.
Some ethnic groups are most affected by Lupus including African Americans, Native Americans, Hawaiian natives, Latin Hispanics, Asio Americans and Pacific Islanders. In addition, 9 out of 10 cases are women, highlighting a possible hormonal correlation to the onset of the Lupus Disease.
More than 50 genes are said to be responsible for the onset of Lupus. In Caucasian populations the genes associated with consistent risk factors for SLE are HLA-DR2 and HLA-DR3. Some genes in MHC Class II and Class III have shown an association with SLE, and are also shown associations with multiple genes including TNF in Class III region and TAP1 and TAP2 genes in class II region.
Advantages of getting the Whole Genome Sequencing for Lupus
If you want to know if you have Lupus, the best way is doing a genetic test. In this case is enough to identify variants in the genes which have been identified to be implicated in the onset of the disease.
Lupus does not always correlate with a family history of pathogenicity, so is advisable to do the whole genome sequencing to investigate your clinical status.
If a person has some symptoms that could be associated with Lupus it is important to investigate with a Genome Sequencing test to know the nature of the disturbance.
Some symptoms of Lupus can be confused with other pathologies, for example the typical skin reaction of Lupus might seem a dermatological problem, therefore it would be impossible without an appropriate genetic test to indicate the presence of Lupus and treat the pathology in the best way.
It is also important for everyone to know their clinical condition because for a child with parents with Lupus there is the possibility of between 5 and 12 percent of inheriting this disease.
Diagnosis and treatment
Doctors base the diagnosis of Lupus on the results of the objective examination and on predetermined criteria.
Nevertheless, due to the wide variety of symptoms, it is difficult for the doctor to distinguish Lupus from a similar pathology. Laboratory tests can help doctors to confirm the diagnosis. There are some blood tests that help to make a diagnosis, very important are the antinuclear antibodies (ANA), which are present in almost all patients with Lupus. Other more specific tests include the detection of antibodies against native DNA and a measurement of the levels of certain blood proteins (e.g. complement proteins, part of the immune system) can also be performed.
Dante Labs for Lupus Awareness Day
Dante Labs decided to be involved in raising awareness of Lupus.
Our customer care service will be available to answer your questions and will help you understand the importance of genetic tests.
Raise the awareness: we are all in this together!
Are you interested in your DNA and you want to test it? Click here to learn more about Dante Labs Genetic Test.