Today, I want to talk about an important and sometimes insufficiently illuminated topic – lupus. This is a disease that can affect various parts of the body and seriously impact your health and well-being.
What is lupus?
Lupus (systemic lupus erythematosus, SLE) is a chronic autoimmune disease of the connective tissue that can affect the skin, joints, kidneys, heart, intestines, lungs, and nervous system.
The cause of lupus is the attack of the body’s immune system on its own organs. The immune system, which usually protects the body from infections, starts to mistakenly attack its own cells, tissues, and organs.
Lupus got its name due to the early observed association with skin rashes resembling a wolf’s bite. However, I must point out that this rash does not always appear in lupus, but it is quite common. If a person does not have a typical butterfly-shaped rash on the face, the rash may have a different appearance. Alternatively, the rash may appear on other parts of the body.
Lupus in Celebrities
Many people first heard about lupus in 2015 when popular singer Selena Gomez publicly announced her illness. After that, she disappeared from the screens for a while and when she reappeared, she revealed that she had to undergo a kidney transplant due to lupus-related kidney damage.
Another celebrity who devotes much attention to spreading information about this disease is Lady Gaga. However, her condition is in a borderline state and does not cause her any discomfort. Lady Gaga herself says that it’s all thanks to her taking care of her health. Her uncle has been diagnosed with lupus, and the singer is genetically predisposed to it.
Some Statistics
Approximately 15,000 (1 in 2,0Approximately 1 in 1,000 Canadians has SLE. Lupus can affect both men and women of any age, but it most commonly develops between the ages of 15 and 44. In this age group, SLE is about 10 times more common in women than in men. However, among individuals under 15 and over 45 years old, lupus occurs equally frequently in both men and women. As a result, lupus is mistakenly considered purely a female disease.
This disease occurs 2-3 times more often in African Americans and Asians than in native Europeans. Lupus is also more common and more severe among native Canadians.
Symptoms of Lupus
Diagnosing lupus can be very challenging. The symptoms of this disease can be diverse and depend on which organs and systems of the body are affected. However, there are some common signs, including:
Skin Manifestations:
- Red or purple rashes on the skin, especially on exposed areas exposed to sunlight, such as the face, neck, hands, and legs.
- Rashes can be flat or raised, scaly or non-scaly. Rashes can be itchy and are often sensitive to sunlight.
Joint Problems:
- Pain and inflammation in the joints.
- Swelling and limited range of motion in the joints.
- Chronic or recurrent joint symptoms.
General Symptoms:
- Fatigue and general weakness are present in 80-100% of patients and can reach disabling levels.
- Elevated body temperature (fever) which occurs with low white blood cell count is seen in 50% of patients.
- Loss of appetite and reluctance to eat.
- Weight loss – one of the most commonly encountered symptoms.
- Raynaud’s phenomenon, characterized by spasms (narrowing) of capillaries, mostly in the fingers and toes. This leads to changes in skin color (pallor, blueness, redness), sensation of cold, numbness, and pain. Occurs in 50% of patients with SLE.
Kidney and Urinary System Problems:
- Protein in the urine (proteinuria), which may indicate kidney damage. Kidney damage occurs in about 50% of lupus cases.
- Frequent urination.
- Swelling in the legs or around the eyes.
Heart and Lung Problems:
- Chest pain and difficulty breathing.
- Inflammation of the membrane of the heart (pericarditis) or lungs (pleurisy), 25% of cases of lupus.
Gastrointestinal Problems, which can lead to problems with nutrient absorption:
- Gastrointestinal involvement occurs in 40% of SLE cases.
- Mucositis – inflammation of the mucous membranes of the mouth and stomach. This can cause pain, mouth ulcers, and difficulty eating. Similar ulcers can occur in other conditions.
- Irritable bowel syndrome: abdominal pain, constipation, diarrhea.
- Periodic stomach pain, gas, and discomfort.
- Vomiting or nausea.
Brain and Nervous System Symptoms:
- Headaches and migraines.
- Dizziness and sleep disturbances.
- Psychological changes such as depression or anxiety.
- Seizures, mood changes, memory problems, and difficulty concentrating.
Other Organs and Systems:
- Inflammation of eye tissues and vision problems.
- Problems with the liver, spleen, and bone marrow.
It’s important to note that the symptoms of lupus can vary in severity and frequency among different patients.
In this text, we discussed the risk factors and the diagnosis of lupus:
Risk Factors:
- Genetic predisposition: People with a family history of lupus or other autoimmune diseases may have an increased risk.
- Gender: Lupus is more frequently diagnosed in women, especially during reproductive age, possibly due to hormonal influences on the immune system.
- Ethnicity: Lupus may be more common in certain ethnic groups, such as African Americans and Asians.
- Environmental factors: Toxic substances in the environment may play a role, particularly in those with a genetic predisposition.
- Sun exposure: Ultraviolet rays from the sun can stimulate the immune system and contribute to lupus activation in some individuals.
- Infections: Certain infections can trigger lupus activation or worsen its symptoms, especially in those on immunosuppressive medications.
- Use of certain medications: Some medications, though rarely used now, may be associated with an increased risk of lupus development.
- Psychosocial factors: Stress and psychological factors can impact the immune system and contribute to lupus flares.
It is also important to note that these factors can affect each individual differently.
Diagnosis:
Since lupus is an autoimmune disease, its diagnosis can be complex and may require the involvement of specialists from various medical fields, such as rheumatologists, dermatologists, immunologists, and others.
Usually, the diagnosis is made in several stages, and often the initial diagnosis is not lupus but a range of conditions that may be mistaken for it:
- Viral Infections: Such as viral hepatitis or influenza.
- Various Rheumatologic Diseases: Like rheumatoid arthritis and systemic sclerosis.
- Sjögren’s Syndrome: Another autoimmune disease that may present with dry eyes and mouth, as well as joint pain and fatigue.
- Lymphoma and other lymphoproliferative disorders.
- Thyroid Disorders: Such as hypothyroidism.
- Chronic Infections: Such as tuberculosis or Lyme disease.
- Crohn’s Disease: Which may present with joint pain and can mimic lupus.
- Dermatomyositis and Polymyositis: Two other types of autoimmune diseases that can affect muscles and cause weakness and fatigue.
- Fibromyalgia: A chronic disorder characterized by diffuse muscle and joint pain.
Laboratory Tests:
Systemic lupus erythematosus (SLE) is considered a challenging condition to diagnose. Not only because it is known as the “great imitator,” but also because there are no tests that can definitively confirm this diagnosis.
The patient’s blood is analyzed to detect specific markers and antibodies characteristic of SLE:
- Analysis of antinuclear antibodies (ANA): This marker may be positive even without SLE (5-10% of the population may have a positive ANA without having SLE). However, in 98% of cases, a positive ANA confirms the presence of SLE.
- Analysis of double-stranded DNA (dsDNA) antibodies: Only 50% of SLE patients will have a positive marker, but they are more likely to experience kidney complications.
- A new marker approved in the USA in 2022, EliA Rib-P, can help diagnose SLE. It is highly specific to SLE, meaning it can aid in diagnosing SLE if ANA does not yield a positive result.
There are also elevated blood parameters that can indirectly help suspect SLE and assess the extent of organ involvement in the autoimmune process:
- Complete blood count (CBC): May show anemia or low levels of white blood cells or platelets, which often occur in conjunction with SLE.
- Comprehensive metabolic panel: Assesses kidney and liver functions, and checks blood sugar, electrolytes, cholesterol, and triglyceride levels. Deviations from normal ranges may indicate complications affecting vital organs.
- Serum protein electrophoresis: May show increased gamma-globulin and decreased albumin levels in the blood.
- C-reactive protein (CRP): An inflammation marker often present in SLE and other autoimmune diseases.
- Complement levels: Complement proteins play a role in inflammation. Levels are typically low in patients with active SLE, especially with kidney involvement. However, low complement levels alone are not a diagnostic sign of SLE.
- Erythrocyte sedimentation rate (ESR): Indicates how quickly red blood cells settle to the bottom of a test tube in one hour. If the rate is elevated, it may be a sign of a systemic condition like SLE. However, ESR alone does not specifically indicate SLE and may be elevated in other inflammatory conditions such as cancer or infection.
- Kidney and liver evaluation: SLE can affect these organs; their functionality needs to be assessed.
- Urinalysis: Increased levels of protein or red blood cells in the urine can be observed in SLE, especially if it has affected the kidneys. Some form of kidney damage is seen in about 50% of people living with SLE.
- Antiphospholipid antibodies (APL): These antibodies attack certain aspects of normal cell membranes, and their presence signifies autoimmune activity. Approximately 50% of SLE patients have these antibodies. A positive test can help confirm the diagnosis and identify women of childbearing age with SLE who have certain risks (e.g., blood clots and miscarriages) that may require prophylactic treatment and monitoring.
None of these tests are specific to SLE, but they can raise suspicion of its presence. The ordering and analysis of these indicators should be performed by medical specialists.
Other tests help monitor the condition of organs typically affected by SLE:
- Chest X-ray: May show fluid or inflammation in the lungs.
- Echocardiogram: May indicate heart problems.
- Kidney biopsy: In some cases, a biopsy of kidney tissue helps assess kidney condition and determine the treatment plan. This type of investigation is usually considered after other non-invasive tests because it is invasive.
In the second part, we will discuss everything that may be helpful for those who have already been diagnosed with lupus.