What Are the Keys to Recognizing and Diagnosing Autoimmune Disorders?

The immune system safeguards the body against threats, including bacteria, viruses and toxins, and enables healing and recovery. When it isn't working as it should, that could be due to autoimmunity.

Autoimmune disorders—there are more than 100 types—can have broad implications for a person's health and quality of life, affecting everything from sleep to sex.

"Autoimmune disorders can differ by the type of condition. However, in general, most autoimmune disorders are the result of the body's immune system mistaking its own tissues or cells for a threat and mounting an attack against them," explained Mahmud Kara, M.D., the founder and CEO of KaraMD, a supplements manufacturer in Cleveland. "The exact causes of autoimmune disorders are still unknown and, again, can vary based on the condition itself. Some common causes or factors when it comes to autoimmune disorders include genetics, environment and chronic inflammation."

Approximately 50 million Americans live with one or more autoimmune disorders. The conditions transcend demographics, but women are about twice as likely as men to develop autoimmunity. Scientists aren't sure why, but many believe hormones and genetics play roles.

Symptoms and effects vary substantially from one autoimmune disease to another, depending on what part of the body the immune system is attacking. For instance, rheumatoid arthritis originates in and predominantly affects the joints, whereas Hashimoto's thyroiditis primarily impacts the endocrine system.

All of these conditions affect multiple facets of health, and many people who have them share similar challenges. Knowing autoimmunity's potential signs and symptoms—and the truth behind common misconceptions—can empower you to seek help and take control of your health.

Autoimmunity symptoms

Yes, symptoms are distinct to each condition and individual, but most people with common autoimmune disorders, such as lupus, rheumatoid arthritis, multiple sclerosis (MS) and autoimmune-related hypothyroidism, experience one or more of the following symptoms, according to Kara:

• Fatigue
• Joint or muscle pains and aches
• Skin problems (e.g., dryness, itchiness, rashes, discoloration)
• Gastrointestinal issues
• Swelling, typically in the joints or glands
• Hair loss
• Fever
• "Brain fog" or difficulty focusing

Sexual health implications are also prevalent, according to Jacob Teitelbaum, M.D., a board-certified internist in Kailua-Kona, Hawaii. Some conditions directly impact sexual function or sensation by affecting specific body parts, such as the nerves or glands in the genitals, or limiting mobility.

Across disorders, symptoms such as fatigue, pain, anxiety and depression frequently contribute to difficulties such as low libido, erectile dysfunction (ED) and difficulty with orgasm. Diminished self-esteem and confidence can pose additional challenges.

A systematic review and meta-analysis published in March 2023 in the journal Rheumatology collated data from 68 studies of women with systemic autoimmune rheumatic diseases (SARDs), such as systemic sclerosis (scleroderma), rheumatoid arthritis, Sjögren's syndrome and systemic lupus erythematosus. The results indicated sexual function was "severely impaired" across disorders, with about 63 percent of participants reporting some level of dysfunction.

A 2019 study published in the journal Inflammatory Bowel Diseases reported up to 94 percent of men with chronic inflammatory bowel disease experience ED.

Up to 91 percent of men and 72 percent of women with MS may experience sexual difficulties, according to the National Multiple Sclerosis Society.

Autoimmunity can affect fertility and pregnancy, too. Conditions including rheumatoid arthritis, Hashimoto's thyroiditis, Graves' disease and type 1 diabetes are associated with diminished fertility in men and women.

Several autoimmune ailments are associated with pregnancy complications, and most pregnant people with one or more such conditions are considered high risk. However, with disease management and careful monitoring, healthy pregnancies are common.

Symptoms can come and go, or their severity can increase or decrease, explained Hana Patel, M.B.B.S., a general practitioner and mental health coach in London, in an email interview. When symptoms dissipate or disappear, it's known as remission. When they return or worsen, it's a flare-up.

Many women find their menstruation symptoms worsen before or during their period. Pregnancy and menopause can affect symptoms, too.

How are autoimmune disorders diagnosed?

No single test can diagnose autoimmunity, according to Kara. Diagnosis is typically a multistep process that includes a physical exam, a discussion of symptoms and blood tests. A doctor also may take a tissue biopsy or order imaging, such as magnetic resonance imaging (MRI).

Most autoimmune conditions have certain telltale signs, but many symptoms are vague and common across myriad disorders, which can complicate the diagnostic process. Plus, autoimmune diseases frequently co-occur with other conditions, autoimmune or otherwise, which may compound difficulties.

"Depending on symptoms, they can take some time unless they present with classic textbook symptoms," Patel said.

Most of the time, primary care providers can diagnose autoimmunity and often treat it. In some instances, however, a specialist's expertise is helpful or necessary.

Rheumatologists generally handle autoimmune disorders, but different specialists work with various conditions. For example, a person with MS may benefit from seeing a neurologist, and someone with an autoimmune thyroid condition could benefit from working with an endocrinologist.

What can happen if autoimmunity is undiagnosed?

Outcomes vary from one condition to another, but unaddressed autoimmune conditions often worsen with time, Patel explained. Some can cause significant, lasting damage.

Rheumatoid arthritis, for example, can lead to long-term joint deformity and destruction. As a systemic condition, it can sometimes involve multiple body systems over time, including internal organs, and increase the risk of heart disease and other issues.

Untreated type 1 diabetes can lead to cardiovascular disease and eye and nerve damage.

According to Kara, some of the most common complications of autoimmune conditions include, but aren't limited to, the following:

• Blindness or vision loss
• Blood clotting problems
• Bone, ligament and joint damage
• Frequent infections or illnesses
• Heart diseases or cardiovascular damage
• Nervous system issues, such as neuropathy and seizures
• Other organ damage, such as kidney disease

Generally speaking, untreated or undiagnosed autoimmune conditions can have severe complications and cause a deterioration of health and quality of life for many people.

Besides the physical implications, autoimmune conditions can substantially impact a person's mental health and quality of life, Kara added.

"Autoimmunity can cause uncomfortable symptoms and impact daily functioning, which in turn may lead to increased feelings of depression, anxiety or even isolation," he said.

Misconceptions about autoimmunity

Much advancement has been made in the area of autoimmune conditions, but there are still unknowns and misconceptions. One of the most common misconceptions is that they can be cured, Kara and Patel noted. Treatments that can significantly improve the quality of life for most patients exist for most conditions, yes, but none is currently curable.

"There is no one specific cure or treatment approach that alleviates all autoimmunity issues. However, certain approaches, like dietary changes, can help reduce inflammation and, in turn, help improve certain symptoms," Kara said.

Patel agreed. She noted that vague, generalized recommendations and unscientifically touted elixirs do not work as effective treatments for everyone, if at all. Even medications and other widely recognized treatment methods are not one-size-fits-all propositions, she added. What works for someone else with your condition may not work for you, and it may take some trial and error to find the best fit, which your doctor can help you figure out.

Another misconception is that all autoimmune disorders have one cause, Kara said. People often suggest they're caused by stress. Although stress and other factors can contribute, the cause of autoimmunity is still unknown and varies based on the specific condition.

Yet another myth is that autoimmunity doesn't affect young people, Patel explained. Many conditions impact people in their 30s and younger. Some, including type 1 diabetes and juvenile rheumatoid arthritis, are frequently diagnosed earlier in life.