Common Autoimmune Diseases and their Treatment

Overview

Researchers believe sex chromosomes impact a person’s likelihood of developing an autoimmune disorder. Most commonly, the female sex is born with XX chromosomes (one X chromosome from each parent), and the male sex is born with XY chromosomes (an X from a female parent and a Y from a male parent). The X chromosome is significantly larger than the Y chromosome and is estimated to have over 100 times as many genes coded with protein instructions.

X chromosomes have a more significant number of immune-related and immune-regulatory genes. People born with two X chromosomes tend to have a more robust immune system and can fight off viruses more efficiently. However, a strong and swift immune system can be a double-edged sword. Having two X chromosomes increases the likelihood of mutation, thereby increasing the risk of developing an autoimmune disease.

The way cells reduce the risk of genetic mutations is through X-inactivation. This process occurs purposefully, yet randomly, silencing unnecessary X chromosomes.

Autoimmune Diseases in Females

Women are more often prone to autoimmune diseases but less susceptible to infectious diseases than men. This higher prevalence is attributed to the X chromosome, which contains many genes related to the immune system. It is advantageous for women to have two X chromosomes, but the price is a greater tendency to develop autoimmunity. Research suggests that hormonal changes play a role in triggering the development of autoimmune disorders.

 Puberty, pregnancy, and menopause all affect hormone levels significantly. The female reproductive life cycle best demonstrates the relationship between hormones and multiple sclerosis. Women are more likely to develop multiple sclerosis after puberty. Studies show increased cases in women post-puberty that are not reflected in men post-puberty.

During pregnancy, there seems to be a decrease in the symptoms and severity of MS due to the estrogen hormone estriol produced in the placenta. This hormone has anti-inflammatory properties, and pregnant people with MS experience a 70% reduction in relapses.

Clinical observations show that almost 50% of postmenopausal MS patients noted worsening symptoms. Postmenopausal patients on hormonal treatment saw an improvement in their symptoms.

Establishing the connection between autoimmune diseases and pregnancy is challenging without considering hormones. One theory explores what it means to keep a fetus alive. A fetus is a foreign entity with foreign antigens. The immune system appears to adapt in order not to reject the fetus. This adaptation may trigger the onset of an autoimmune disease.

What are Autoimmune Disorders?

Autoimmune disorders are medical conditions in which the immune system mistakenly attacks the body’s own tissues. They can be sporadic and cause complications occasionally, but most people who suffer from them experience symptoms more regularly. These disorders primarily affect women, and more is being understood about how sex, genetics, and hormones impact autoimmune disorders.

How Common are Autoimmune Disorders?

About 1 in 25 people worldwide are affected by an autoimmune disorder. While men often have more severe cases, women make up about 80% of autoimmune disease diagnoses. Common autoimmune disorders that affect more women than men include, but are not limited to:

Multiple sclerosis

• More commonly referred to as MS, this disease affects the central nervous system. It disrupts the covering and protecting myelin sheath of the nerves, resulting in interference with signals in the brain.

Systemic lupus erythematosus (lupus)

• Lupus is a condition in which the body’s immune system mistakenly attacks its own tissues. This inflammation can affect various organs, including the joints, skin, and kidneys.

Rheumatoid arthritis

• This condition happens when the immune system attacks the joint lining throughout the body. This leads to joints riddled with pain and stiffness, making mobility and everyday tasks difficult.

Psoriasis

• Psoriasis occurs when a rapid production of skin cells causes a buildup. Red, scaly, and inflamed patches of skin can characterize it. Psoriasis can also affect the joints.

Common Autoimmune Diseases

There are more than 80 autoimmune diseases known in general. Common autoimmune diseases in women include:

• Rheumatoid arthritis is a type of arthritis that attacks the joints.
• Psoriasis is a dermatological condition characterized by scaly, thick skin patches.
• Psoriatic arthritis is a type of arthritis that affects people with psoriasis.
• Lupus damages areas of the body that include skin, joints, and organs.
• Thyroid diseases, including Hashimoto’s thyroiditis, where it doesn’t cause enough of the hormone (hypothyroidism), and Graves’ disease (hyperthyroidism).
• Type 1 diabetes is a medical condition in which the immune system destroys the insulin-producing cells in the pancreas.

These diseases typically result from interactions between environmental factors and genetic factors. Race, gender, and ethnicity characteristics are linked to the likelihood of developing an autoimmune disease. Autoimmune diseases are often more prevalent when individuals are exposed to specific environmental factors.

Who is at risk for Autoimmune Diseases?

Women develop several types of autoimmune diseases more often than men. Having one autoimmune disease increases your risk of developing another. Experts don’t know the causes of autoimmune disease, but many theories suggest that an overactive immune system attacks the human body after an illness or injury.

The following risk symptoms increase the chances of autoimmune disorders:

Genetics

Certain diseases, like lupus and multiple sclerosis (MS), tend to run in families. Having a relative with an autoimmune illness enhances risk, but it doesn’t mean you will have it for sure. 

Weight

Obesity raises your risk of developing rheumatoid arthritis or psoriatic arthritis. This could be because more weight puts more strain on the joints or because fat tissue creates substances that encourage inflammation.

Smoking

Research has linked smoking to several autoimmune disorders, such as rheumatoid arthritis, hyperthyroidism, lupus, and multiple sclerosis.

Certain medications

Blood pressure drugs or antibiotics can trigger drug-induced lupus, often a more benign form. Statins can trigger statin-induced myopathy.

Environmental factors

A family’s susceptibility to autoimmune diseases may be linked to shared environmental factors, which may work in conjunction with genetic factors.

Gender

Around three-quarters of people with autoimmune diseases are women.

Sex hormones

Autoimmune disorders tend to strike during the childbearing years. Some diseases seem to be affected, for better or worse, by significant hormonal changes such as pregnancy, childbirth, and menopause.

Infection

Some disorders appear to be triggered or exacerbated by specific conditions.

Symptoms of Autoimmune Diseases?

Autoimmune disorders can be tricky to recognize at first because the symptoms often start slowly and can look like many other conditions. Early signs may include:

• Fatigue
• Achy muscles
• Numbness or tingling in the hands and feet
• Low-grade fever
• Swelling or redness
• Hair loss
• Trouble concentrating (“brain fog”)
• Unexplained weight loss
• Swollen lymph nodes
• Anemia
• Digestive changes
• Skin rashes or autoimmune-related skin conditions
• Raynaud’s phenomenon
• General loss of appetite
• Cough or respiratory symptoms
• Ear, eye, or nasal involvement
• Nervous system symptoms
• Difficulty swallowing
• Swelling of the hands

Autoimmune symptoms can also depend on the specific disease. For example:

• Type 1 diabetes may cause extreme thirst, frequent urination, fatigue, and weight loss.
• Inflammatory bowel disease (IBD) may cause bloating, abdominal pain, and diarrhea.

Conditions like psoriasis or rheumatoid arthritis (RA) often come with flare-ups. That means symptoms can appear for a while, then ease up or disappear during periods of remission.

Common symptoms many autoimmune patients report include:

• Joint pain or stiffness
• Skin changes or rashes
• Ongoing fatigue
• Abdominal discomfort or digestive issues
• Swollen glands
• Recurrent fevers

Why Diagnosis Can Be Difficult

Many women say getting diagnosed with an autoimmune disorder takes time—and that’s true. There isn’t a single test that confirms most autoimmune diseases. Instead, diagnosis usually requires a combination of:

• Your symptoms
• Blood tests or antibody markers
• Imaging
• Sometimes a tissue biopsy

Because these symptoms overlap with other common conditions, it’s important not to ignore new or persistent changes in your body. Seek medical care if you suddenly feel unusually fatigued, develop joint stiffness, or notice any symptoms that feel out of the ordinary for you.

Note: Muscle aches, swelling, redness, and fatigue can be signs of autoimmune activity. Symptoms may come and go, so tracking how you feel over time can be helpful during evaluation.

Diagnosis of Autoimmune Diseases

Specialists often have a hard time diagnosing autoimmune diseases. There’s usually no specific test to show whether you have particular autoimmune disorders, as the symptoms can be confusing. That’s because many autoimmune diseases have the same symptoms. Some symptoms, like muscle aches, are common in many other illnesses. It can take a long time and a few visits to different types of specialists to get a diagnosis.

To assist your health care professional in finding out if an autoimmune disorder is causing your symptoms,

• Learn about the health situation in your family history. What health problems did your aunts, grandparents, uncles, and cousins have? Note down what you learn and explain it to your doctor.
• Maintain track of symptoms, including what makes them better or worse, and how long they last 
• Share the details with your healthcare provider.
• See a specialist for your symptoms. For example, if you have an autoimmune rash with a positive ANA IFA screen, the clinician needs to diagnose the root cause of the positivity. This can be achieved through a reflex to an algorithm of certain antibody tests to help identify autoantibodies associated with specific autoimmune diseases.
• See a dermatologist (skin doctor).

Laboratory testing and clinical assessment

Laboratory testing and clinical assessment are compulsory for differential diagnosis and disease classification of autoimmune disorders.

The antinuclear antibody immunofluorescence assay (IFA) is a first-line screening checkup for patients with suspected autoimmune disorder symptoms. Due to its high sensitivity compared to other assays, this test may be considered a gold standard.  Positive results may prompt clinicians to keep investigating the reason for a positive ANA IFA and narrow down the field of potential culprits.

Clinical suspicion and correlation are generally necessary to proceed with additional testing for specific antibodies beyond the algorithm of the most common rheumatic diseases.

A positive ANA result alone is not diagnostic of an autoimmune disorder. The prevalence of ANAs in healthy individuals is about 3-15%. The production of these autoantibodies is strongly age-dependent and increases to 10-37% in healthy persons over 65. Even healthy people with viral infections can have a positive ANA, albeit for a short time. Patients with infectious diseases may also test positive for ANA. These include viral infections (hepatitis C, parvovirus), bacterial infections (tuberculosis), and parasitic infections (schistosomiasis). Certain medications and some lymphomas may also cause a positive ANA.

An ANA IFA cascade with reflex to specific testing has clinical significance in the proper setting. A positive ANA IFA can show pre-clinical autoimmune disease, yet utilizing the ANA IFA cascade with reflex to thorough testing can lead to early diagnosis and treatment of potentially devastating diseases, putting some patients in remission. Test results should be interpreted in a clinical context that includes a history and physical, basic chemistry panel, imaging studies, and assessment of symptoms and signs of autoimmune disease.

How are Autoimmune Diseases Treated?

Autoimmune disorders, in general, cannot be cured. Still, the condition can be controlled through an overactive immune response, which can help bring down inflammation or at least reduce pain and inflammation in autoimmune cases. Historically, treatments include

Anti-inflammatory drugs

Nonsteroidal anti-inflammatory drugs (NSAIDs) to reduce inflammation and pain, such as ibuprofen (Motrin, Advil) and naproxen (Naprosyn)

Corticosteroids

To reduce inflammation, they are sometimes used to treat acute flare of symptoms.

Pain-killing medication

Such as paracetamol and codeine.

Immune-suppressing drugs

It is used to inhibit the activity of the immune system.

Treatment for the autoimmune deficiency

Insulin injections in the case of diabetes.

Physical therapy

Use to encourage mobility.

Surgery

 example, to treat bowel blockage in the case of Crohn’s disease.

High-dose immunosuppression

The use of immune system-suppressing drugs (in the doses needed to treat cancer or to prevent the rejection of transplanted organs) has been tried recently, with promising results. When intervention is early, the chance of a cure for some of these conditions seems possible.

Treatments are also available to relieve symptoms like pain, swelling, fatigue, and skin rashes.

Eating a well-balanced diet and regular exercise may also help you feel better.

Note: The primary autoimmune disease treatment is done with drugs that bring down inflammation and calm the overactive immune response. Treatments can also help relieve symptoms.

The treatment depends on the disease. In most cases, the goal of the cure is to slow down your immune system and ease redness, swelling, and pain from inflammation. For a few diseases, you may need treatment for the rest of your life.

Autoimmune vs Immunocompromised

The immune response is how the human body recognizes and protects itself against pathogens such as fungi, bacteria, viruses, and substances that appear foreign. The system protects the body from harmful foreign substances and possible pathogens by recognizing them correctly. Immune system diseases occur due to defects in the system. Autoimmune disease and immunocompromised are two situations that occur due to defects in the immune system. An autoimmune disorder occurs when the immune system mistakenly attacks healthy cells in the human body. In contrast, individuals with immunocompromised systems have a weakened immune system that fails to respond adequately to infections or diseases. Thus, this is the crucial difference between autoimmune disease and immunocompromised.

Similarities

The following are some similarities:

• Both situations depend on the activity of immune cells.
• These conditions occur due to problems in the immune system.
• They cause serious diseases.
• They are treatable.
• Both can be due to genetic mutations.

Differences

The following are the differences:

• An autoimmune disorder is a condition that happens when the immune system attacks the healthy cells of the human body. 
• An immunocompromised condition occurs when the immune system fails to respond adequately to an infection or disease.
• An autoimmune disease is a condition that is due to a hyperactive immune system.
• Immunocompromised is a condition that is due to an underactive immune system.

Inflammatory Disorders

Inflammation is associated with a biological response to stimuli interpreted by the human body to have a potentially harmful effect. Inflammation is a healthy response to injury, infections, or other medical conditions. For example, consider how the area gets warm and red around a splinter.

An inflammatory disease, however, is one where the human immune system causes inflammation by mistakenly attacking human body cells or tissues. The human immune system can go wrong and cause inflammation in several ways.

In autoimmunity, our antibodies get directed against our cells, as in patients with rheumatoid arthritis and lupus. An example of a different way our immune system can attack our tissues is when you have an “autoinflammatory” disease. In that case, cells produce inflammatory chemicals without the involvement of antibodies. Gout, for example, is felt to be an autoinflammatory disease.

How to Prevent Autoimmune Disease?

There are no known cures for autoimmune disorder symptoms, and there are no proven vaccines available to prevent them. However, there are ways you can minimize your risk of developing an autoimmune condition. 

Eat a balanced, whole-food diet.

The best way to increase your nutrient intake and support your healthy gut is through eating a Mediterranean-style, whole-food diet, including gut-loving nutrients such as prebiotic fibers, probiotics, and antioxidants. This will help the natural healing process in the gut.

Whole foods also contain nutrients that may relieve symptoms of autoimmune disorders. Zinc, antioxidants, and anti-inflammatory nutrients, like omega-3 fatty acids, all contain properties that could support autoimmunity.

Explore food intolerances

Utilizing foods you are intolerant to can cause issues with digestion, including leaky gut and gut bacteria imbalances. It can increase the chances of an autoimmune flare-up for people with autoimmune conditions.

Common intolerances include dairy products, wheat, and fructose. 

Manage your stress levels

The function of stress in an autoimmune onset and flare-ups, handling stress levels is an essential step for both management and prevention. The more pressure you are under, the more critical it is to focus on stress management techniques.

There are many ways to handle stress, depending on what is best for you and your situation. Some ideas include meditation, yoga, tai chi, gentle walks, journaling, or starting a new hobby.

There is no authentic way to prevent an autoimmune disorder from developing. By taking small steps to support your body’s immune system, you can decrease your risk of autoimmunity. If you have already been diagnosed, you can use these steps to manage your symptoms and flare-ups in a way that complements your current management plan.

When should I see a healthcare provider?

Seek treatment when you notice new autoimmune disease symptoms. Don’t downplay if you’ve been healthy and suddenly feel fatigued or have joint stiffness. Telling your doctor helps them examine your symptoms more closely. An online doctor can help you get blood tests and imaging to identify or rule out autoimmune diseases.

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