Immune System and Autoimmune Diseases:
The immune system is designed in a very delicate way to protect our body from harmful agents. When this protective system starts to attack the body’s own cells then it is termed as an autoimmune disease. For reasons not yet fully understood, the immune system mistakes healthy body cells for foreign agents and destroy them. Autoimmune diseases are chronic and often life altering.
There are over 80 autoimmune diseases in total, known to have affected almost 5 to 8 percent of the total population. Autoimmune diseases are found more frequently in women than in man. In this blog we will go through some the important and well understood autoimmune diseases. We will be discussing these conditions in detail, what they are, their signs and symptoms and how they are treated.
1. Rheumatoid Arthritis (RA):
Rheumatoid arthritis is a chronic autoimmune disease where the immune system targets the joints, especially in the hands, wrists and knees. Unlike osteoarthritis that is caused due to wear and tear, rheumatoid arthritis is caused due to inflammation in the joints.
Symptoms:
Patients come to outpatient department with chief complaints of pain, stiffness, swelling in the joints and morning stiffness that last for more than 30 minutes. They also complain of fatigue and weight loss. Joint deformity is also seen in severe cases.
Diagnosis:
In order to diagnose rheumatoid arthritis you need to do blood tests for rheumatoid factor (RF) and anti-CCP antibodies. In imaging you can advise X-ray and ultrasound as well.
Treatment:
The most common treatment of rheumatoid arthritis is DMARDs (methotrexate), you can also give biologics like adalumumab and etanercept, physiotherapy and lifestyle adjustments also help in the prognosis of rheumatoid arthritis.
2. Systemic Lupus Erythematosus (SLE):
SLE is an autoimmune disease that involves multiple systems. It can affect the skin, joints, kidneys, brain and other organs. It is of the most difficult disease to diagnose due to its wide array of symptoms.
Symptoms:
The patients usually complains of fatigue, joint pain and skin rashes. Classical presentation of skin rash on the nose and cheeks resemble a butterfly. It can involve kidneys and lead to nephrotic symptoms. It can also affect the nervous system leading to symptoms like headache and seizures.
Diagnoses:
SLE diagnosis require ANA testing, Anti-dsDNA and Anti-Smith antibodies. Urinalysis and kidney function tests can also confirm the diagnosis.
Treatment:
Patients with SLE are treated with corticosteroids and immunosuppressant like Mycophenolate Mofetil. Hydroxychloroquine is preferred to relieve skin and joint symptoms. Biologics like Belimumab are also prescribed.
3. Type 1 Diabetes Mellitus:
I have uploaded a whole blog discussing type 1 diabetes mellitus on my website, click here if you want to know more details regarding both type 1 and type 2 diabetes mellitus. Type 1 diabetes is an autoimmune condition in which the immune system destroy the insulin producing beta cells in the pancreas. This leads to high levels of glucose in the blood resulting in numerous health concerns.
Symptoms:
Patient complains of excessive thirst and urination with unexplained weight loss. Fatigue and blurred vision is also reported by many patients. In severe cases diabetic ketoacidosis can develop.
Diagnosis:
Diabetes is diagnosed with blood glucose testing and hbA1c levels. Some doctors may also go for C-peptide test and autoantibodies test like GAD65.
Treatment:
There is no definitive cure for diabetes mellitus but it can be kept controlled with the help of lifestyle modifications and medications. Continuous glucose monitoring (CGM), dietary management, exercise, medications like metformin and insulin therapy all these can help you live a normal life.
4. Multiple Sclerosis (MS):
Multiple sclerosis is an autoimmune disease in which the immune system attacks the protective covering of the neurons called the “Myelin sheath”. This leads to disruption in the transmission of electrical signals between the body and the brain,
Symptoms:
The common complaint with which a patient of multiple sclerosis present is feeling of numbness, tingling or weakness in the limbs. He or she may also complain of vision problems, difficulty in walking, muscle spasms and cognitive issues.
Diagnosis:
MRI is the investigation of choice in patients with multiple sclerosis. Lumber puncture will be diagnostic modality if there is presence of Oligo-clonal bands. The doctor can also perform neurological examination to confirm the diagnosis and asses the severity of the condition.
Treatment:
Disease modifying therapies (DMTs) like interferons, Glatiramer acetate or newer oral meds (e.g., Fingolimod) are prescribed to the patients. In cases of flares corticosteroids are given. Physiotherapy is also helpful in regaining or maintaining muscle tone.
Hashimoto’s Thyroiditis:
A very common autoimmune disease in which the immune system attacks the thyroid glands leading to hypothyroidism is Hashimoto’s Thyroiditis. Thyroid gland secrete hormones that are necessary for the proper functioning of the body.
Symptoms:
Patients with Hashimoto’s Thyroiditis presents with fatigue, weight gain, cold intolerance, hair thinning, depression, constipation and menstrual irregularities.
Diagnosis:
TFTs is the investigation of choice. It will reveal elevated TSH levels and low T4 levels. Also test for TPO antibodies will be positive.
Treatment:
Patients are treated with Levothyroxine (a synthetic thyroid hormone), they need to monitor their thyroid hormone levels on regular basis to avoid complications.
6. Psoriasis:
Psoriasis is an autoimmune disease of the skin characterized by rapid skin cell turnover leading to scaling and inflammation. In about 30 percent of the psoriasis patients, psoriatic arthritis is seen.
Symptoms:
Patient present with red scaly patches on the elbows, scalp and knees. Morning stiff is also seen in psoriatic patients. If the nails are involved then nail pitting and separation from nail beds can be appreciated on general physical examination.
Diagnosis:
Psoriasis is diagnosed on the basis of clinical examination. In order to find out the severity of joints involvement X-rays are used. Biopsy is rarely needed for the diagnosis of rheumatic arthritis.
Treatment:
Topical therapies, phototherapy and biologics (e.g., Secukinumab, Ustekinumab) are prescribed. In psoriatic patients NSAIDS and DMARDs are given.
7. Celiac Disease:
In this autoimmune disease the body reacts abnormally to a protein found in wheat, barley and rye called “Gluten”. This response damages the lining of the small intestine.
Symptoms:
Patients complain of bloating, gas and diarrhea after consuming wheat or barley, they have nutritional deficiencies (iron, calcium, B12), dermatitis herpetiformis (red itchy skin rash). Children with Celiac disease fail to thrive and have growth retardation.
Diagnosis:
tTG-IgA antibody test is the investigation of choice for the diagnosis of celiac disease. Small intestine biopsy can also confirm the presence of the disease. Genetic testing for HLA-DQ2/DQ8 can also confirm the diagnosis but are expensive to perform.
Treatment:
Strick gluten-free diet for life. Many gluten free products are now available in the market. Nutritional counselling is important. Vitamin supplementation should be started.
Common Thread among Autoimmune Diseases:
Despite many differences, Autoimmune diseases share many common characteristics such as, chronic inflammation, fluctuating course (flares and remissions are common), diagnostic delay and major impact on quality of life.
Conclusion:
Living with an autoimmune disease can be frustrating, confusing and physically draining. But with education, right medical support and lifestyle modifications one can live a normal life. A friendly reminder, if you or someone you love experience unexplained symptoms of fatigue, pain or chronic discomfort don’t ignore it. Seek advice from a medical specialist and try to understand your condition. The earlier the diagnosis, the better the outcomes.
Sources:
American College of Rheumatology – Rheumatoid Arthritis Overview
Lupus Foundation of America – Understanding Lupus
American Diabetes Association – Type 1 Diabetes
National MS Society – What is MS?
American Thyroid Association – Hashimoto’s Disease
National Psoriasis Foundation – Psoriatic Disease Info
Celiac Disease Foundation – What is Celiac Disease?
FAQs:
What is an autoimmune disease?
An autoimmune disease occurs when the body’s immune system mistakenly attacks its own healthy cells and tissues. Instead of fighting infections and harmful agents, it starts targeting organs and systems, causing inflammation and damage.
What causes autoimmune diseases?
The exact cause is unknown, but factors like genetics, environmental triggers (such as infections), stress, and hormonal changes can contribute. Autoimmune diseases often run in families and are more common in women.
How many autoimmune diseases are there?
There are over 80 known autoimmune diseases, each affecting different organs or systems. Some of the well-known ones include Rheumatoid Arthritis, Lupus, Type 1 Diabetes, Multiple Sclerosis, Hashimoto’s Thyroiditis, Psoriasis, and Celiac Disease.
Who is most at risk?
Women are significantly more likely to develop autoimmune diseases than men. People with a family history of autoimmune disorders, certain infections, or environmental exposures may also be at higher risk.
Can autoimmune diseases be cured?
There is currently no cure for most autoimmune diseases. However, many can be effectively managed with medication, lifestyle changes, and regular monitoring to reduce symptoms and prevent complications.
Are autoimmune diseases life-threatening?
Many autoimmune diseases are chronic, not necessarily life-threatening, especially with early diagnosis and proper management. However, if left untreated, some can lead to serious complications affecting vital organs.
How do autoimmune diseases affect mental health?
Living with a chronic illness can impact mental well-being, leading to depression, anxiety, or stress. Support from healthcare providers, therapy, and peer support groups can improve quality of life.