Autoimmune Diseases Insights - Genetic Tests and Hereditary Risks

Hereditary autoimmune diseases that runs in a family
Hereditary risks for other diseases: autoimmune disease

Autoimmune diseases are conditions where the immune system mistakenly attacks healthy cells and tissues. These diseases can have extensive symptoms and affect different organs and systems, making diagnosis and treatment complex. Treatment often involves medications to suppress the immune response and reduce inflammation. Research on autoimmune diseases continues to increase our understanding and improve treatment options.

What are the most common autoimmune diseases?

  • Rheumatoid arthritis: Rheumatoid Arthritis (RA) is a chronic autoimmune disease that causes inflammation and joint damage, leading to pain, stiffness, and swelling in multiple joints. While it affects old age people, people are diagnosed even in their 30s.
  • Type 1 Diabetes: Type 1 Diabetes is an autoimmune condition where the immune system mistakenly destroys the insulin-producing cells in the pancreas. This results in a lifelong dependence on insulin injections to regulate blood sugar levels.
  • Psoriasis: Psoriasis is a chronic autoimmune skin condition that leads to the rapid buildup of skin cells, resulting in red, itchy, and scaly patches. Around 30% of individuals with psoriasis may also develop psoriatic arthritis.
  • Systemic Lupus Erythematosus (Lupus): This is the most common type of lupus in which the immune system mistakenly targets and damages the body's tissues. This condition leads to inflammation and harm to various organs, including the joints, skin, brain, lungs, kidneys, and blood vessels.
  • Multiple sclerosis: Multiple Sclerosis (MS) is a chronic neurological autoimmune disease where the immune system attacks the protective myelin sheath around nerve fibers in the central nervous system.
  • Inflammatory bowel disease (Crohn's disease and ulcerative colitis): Inflammatory Bowel Disease (IBD) includes conditions like Crohn's Disease and Ulcerative Colitis, such as chronic disorders causing inflammation in the digestive tract. While Crohn’s disease can cause inflammation in any part of the GI tract from mouth to the anus, Ulcerative Colitis affects the colon and rectum lining.
  • Graves' Disease: Graves' Disease is a thyroid gland-related autoimmune disorder. In Graves' Disease, the immune system produces antibodies that stimulate the thyroid to produce excessive amounts of thyroid hormones.
  • Sjögren's syndrome: Sjögren's Syndrome is an autoimmune disorder that primarily affects the body's moisture-producing glands, leading to dry eyes and mouth.
  • Hashimoto's thyroiditis: Hashimoto's Thyroiditis, also known as chronic lymphocytic thyroiditis, is an autoimmune disease that affects the thyroid gland. In Hashimoto's, the immune system mistakenly targets and damages the thyroid, leading to reduced thyroid function (hypothyroidism).
  • Celiac disease: Celiac Disease is an autoimmune condition triggered by gluten intake, a protein found in wheat, barley, and rye. It damages the small intestine's lining, leading to digestive issues, malabsorption of nutrients, and various symptoms, including abdominal pain, diarrhea, and fatigue.

These are just a few examples, and many more autoimmune diseases can affect different organs and systems in the body.

What can cause autoimmune disease?

The exact causes of autoimmune diseases are not fully understood, but several factors can contribute to their development. These factors may include:

  • Genetic Predisposition: There is often a genetic component, as autoimmune diseases tend to run in families. Some genes may increase the risk of developing an autoimmune condition.
  • Your gender: Women are more likely to get affected by autoimmune diseases. 78% of women are said to be affected by autoimmune diseases.
  • Environmental Triggers: Various environmental factors, such as infections, exposure to toxins, and certain medications, can trigger or worsen autoimmune responses in individuals with a genetic predisposition.
  • Infections: Some viral or bacterial infections may trigger an autoimmune response by mimicking or altering the body's proteins.

It's important to note that the interplay of these factors can vary widely among different autoimmune diseases, and research is ongoing to understand the specific mechanisms better and the causes behind each condition. Autoimmune diseases are complex and multifactorial, making them a subject of study in medical research.

What are the most common symptoms of an autoimmune disease?

Common symptoms of autoimmune diseases can vary widely depending on the specific condition and the affected organs or systems. However, some general symptoms that may be present in many autoimmune diseases include:

  • Fatigue
  • Joint pain and swelling
  • Muscle weakness
  • Skin problems
  • Frequent fevers
  • Inflammation
  • Gastrointestinal problems
  • Nervous system symptoms
  • Hair loss
  • Changes in organ function
  • Swollen glands
  • Difficulty breathing

It's important to remember that symptoms can vary significantly between individuals, and not all people with autoimmune diseases will experience the same symptoms. If you suspect you have an autoimmune disease, it's essential to consult a healthcare professional for evaluation and diagnosis.

Autoimmune diseases and genetic testing:

Genetic testing for autoimmune diseases is an active area of research.

The HLA (human leukocyte antigen) genes are a group of genes that are involved in the immune system’s recognition of the body and parts that are foreign and harmful.

Variations in these genes are associated with an increased risk of developing several autoimmune diseases, including type 1 diabetes, rheumatoid arthritis, and multiple sclerosis.

Similarly, variations in the CTLA-4 gene have been linked to an increased risk of developing autoimmune thyroid disease, type 1 diabetes, and lupus.

Variations in the PTPN22 gene have been associated with an increased risk of developing rheumatoid arthritis, lupus, and type 1 diabetes.

Variations in the IL-23R gene have been linked to an increased risk of developing psoriasis, Crohn’s disease, and ulcerative colitis.

Finally, variations in the TNF-alpha gene have been associated with an increased risk of developing rheumatoid arthritis, psoriasis, and ankylosing spondylitis.

As autoimmune diseases continue to evolve, it’s possible that genetic testing may play a greater role in the diagnosis and management of these conditions in the future. For now, the diagnosis of autoimmune diseases is primarily based on clinical symptoms and laboratory tests.


  1. National Library of Medicine. Recent advances in the genetics of autoimmune diseases
  2. Medlineplus.gov: Autoimmune Disease Symptoms
  3. WebMD What is an Autoimmune Disease 
  4. Centers for Disease Control and prevention(CDC) - Systemic Lupus Erythematosus

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