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Everything To Know About Autoimmune Diseases
Autoimmune diseases are conditions in which your immune system mistakenly damages healthy cells in your body. Types include rheumatoid arthritis, Crohn's disease, and some thyroid conditions.
Your immune system usually protects you from diseases and infections. When it senses these pathogens, it creates specific cells to target foreign cells.
Usually, your immune system can tell the difference between foreign cells and your cells.
But if you have an autoimmune disease, your immune system mistakes parts of your body, such as your joints or skin, as foreign. It releases proteins called autoantibodies that attack healthy cells.
Some autoimmune diseases target only one organ. Type 1 diabetes damages your pancreas. Other conditions, such as systemic lupus erythematosus, or lupus, can affect your whole body.
Below we provide an overview of some of the most common autoimmune diseases.
Doctors don't know exactly what causes the immune system to misfire. Yet some people are more likely to get an autoimmune disease than others.
Some factors that may increase your risk of developing an autoimmune disease can include:
Different autoimmune diseases may have similar early symptoms. These can include:
With some autoimmune diseases, including psoriasis or rheumatoid arthritis (RA), symptoms may come and go. A period of symptoms is called a flare up. A period when the symptoms go away is called remission.
Individual autoimmune diseases can also have their own unique symptoms depending on the body systems affected. For example, with type 1 diabetes, you may experience extreme thirst and weight loss. Inflammatory bowel disease (IBD) may cause bloating and diarrhea.
Researchers have identified more than 100 autoimmune diseases. Here are 14 more common ones.
1. Type 1 diabetesYour pancreas produces the hormone insulin, which helps regulate blood sugar levels. In type 1 diabetes, the immune system destroys insulin-producing cells in your pancreas.
High blood sugar from type 1 diabetes can damage the blood vessels and organs. This can include your:
In RA, your immune system attacks the joints. This causes symptoms affecting the joints such as:
While RA more commonly affects people as they get older, it can also start as early as your 30s. A related condition, juvenile idiopathic arthritis, can start in childhood.
3. Psoriasis/psoriatic arthritisSkin cells grow and then shed when they're no longer needed. Psoriasis causes skin cells to multiply too quickly. The extra cells build up and form inflamed patches. On lighter skin tones, patches may appear red with silver-white scales of plaque. On darker skin tones, psoriasis may appear purplish or dark brown with gray scales.
Up to 30% of people with psoriasis also develop psoriatic arthritis. This can cause joint symptoms that include:
4. Multiple sclerosisMultiple sclerosis (MS) damages the protective coating surrounding nerve cells (myelin sheath) in your central nervous system. Damage to the myelin sheath slows the transmission speed of messages between your brain and spinal cord to and from the rest of your body.
This damage can lead to:
Different forms of MS progress at different rates. Difficulties with walking are one of the most common mobility issues with MS.
5. Systemic lupus erythematosus (SLE)Although doctors in the 1800s first described lupus as a skin disease because of the rash it commonly produces, the systemic form, which is most common, actually affects many organs. This can include your:
Common symptoms can include:
IBD describes conditions that cause inflammation in the lining of the intestinal wall. Each type of IBD affects a different part of your gastrointestinal (GI) tract.
Common symptoms of IBD can include:
Addison's disease affects the adrenal glands, which produce the hormones cortisol and aldosterone as well as androgen hormones. Too little cortisol can affect how your body uses and stores carbohydrates and sugar (glucose). Too little aldosterone can lead to sodium loss and excess potassium in your bloodstream.
Common symptoms of Addison's disease can include:
Graves' disease attacks the thyroid gland in your neck, causing it to produce too much of its hormones. Thyroid hormones control the body's energy usage, known as metabolism.
Having too much of these hormones revs up your body's activities, causing symptoms that may include:
Some people with Graves' disease may also experience symptoms affecting the skin (Graves' dermopathy) or eyes (Graves' ophthalmopathy).
9. Sjögren's diseaseThis condition attacks the glands that provide lubrication to your eyes and mouth.
The hallmark symptoms of Sjögren's disease are dry eyes and dry mouth, but it may also affect your joints or skin.
10. Hashimoto's thyroiditisIn Hashimoto's thyroiditis, thyroid hormone production slows to a deficiency. Common symptoms of Hashimoto's thyroiditis can include:
11. Myasthenia gravisMyasthenia gravis affects nerve impulses that help the brain control muscles. When the communication from nerves to muscles is impaired, signals can't direct the muscles to contract.
The most common symptom is muscle weakness. It may worsen with activity and improve with rest. Muscle weakness can also affect:
People with celiac disease can't eat foods containing gluten, a protein found in wheat, rye, and other grain products. When gluten is in the small intestine, the immune system attacks this part of the GI tract and causes inflammation.
People with celiac disease may experience digestive issues after consuming gluten. Symptoms can include:
According to the National Institute of Diabetes and Digestive and Kidney Diseases, celiac disease affects about 1% of people in the world.
13. Autoimmune vasculitisAutoimmune vasculitis happens when your immune system attacks blood vessels. The inflammation that results narrows your arteries and veins, allowing less blood to flow through them.
14. Pernicious anemiaPernicious anemia may happen when an autoimmune disorder causes your body to not produce enough of a substance called intrinsic factor. Having a deficiency in this substance reduces the amount of vitamin B12 your small intestine absorbs from food. It can cause a low red blood cell count.
Without enough of this vitamin, you'll develop anemia, and your body's ability for proper DNA synthesis will be altered.
It can cause symptoms that include:
This rare autoimmune disease typically occurs in people ages 60 to 70 and older.
What are 5 common symptoms of an autoimmune disorder?Some autoimmune disorders can have similar symptoms at early stages. These can include fatigue, dizziness or lightheadedness, low grade fever, muscle aches, and swelling.
What is the most serious autoimmune disease?Many researchers recognize giant cell myocarditis, a rare autoimmune condition that can lead to heart failure, as one of the most serious autoimmune diseases. It has a 1-year mortality rate of 70%.
What are the most common autoimmune disorders?The most common autoimmune diseases are psoriatic arthritis, rheumatoid arthritis, connective tissue diseases, multiple sclerosis, autoimmune thyroid diseases such as Hashimoto's, celiac disease, and inflammatory bowel disease.
What Is An Autoimmune Disease?
Autoimmune diseases result when your immune system is overactive, causing it to attack and damage your body's own tissues.
Normally, your immune system creates proteins called antibodies that work to protect you against harmful substances such as viruses, cancer cells, and toxins. But with autoimmune disorders, your immune system can't tell the difference between invaders and healthy cells.
Doctors have identified more than 100 different autoimmune diseases, which together affect over 24 million people in the U.S. It's not clear exactly what causes or triggers them. Treatment usually focuses on reducing immune system activity.
Some examples of autoimmune diseases are:
What's the most common autoimmune disease?
Doctors don't agree on which autoimmune disorder is most common. Because there are so many different types, there's no one way that they're reported. Many of them are also hard to diagnose, so people may have them without knowing it. But some of the most common types are type 1 diabetes, MS, RA, lupus, Crohn's disease, and psoriasis.
The exact causes of autoimmune diseases are unknown, but scientists have some theories on what triggers them:
Certain medications. Some drugs may cause changes in your body that confuse your immune system. Talk to your doctor about the side effects of statins, antibiotics, and blood pressure medications in particular.
Genetics. Some autoimmune diseases run in families, so you're at higher risk if your family has a history of them. People who have certain genes may also be more likely to have autoimmune disorders. While genes do play a role, they aren't enough to cause an autoimmune disease on their own.
Infections. Microorganisms like viruses and bacteria could set off changes that make your immune system attack itself. This may be more likely if you're genetically prone to immune system disease.
Certain risk factors raise your chances of getting an autoimmune disorder. Some common ones include:
While signs of autoimmune diseases differ depending on the type and location of the condition you have, some symptoms that are common to many include:
A diagnosis may take time and several different kinds of tests to confirm. The symptoms of many autoimmune diseases look like those of other conditions, so it can take months or even years to get the right diagnosis.
Your doctor may start by interviewing you about your symptoms and health history. Then, they may run some tests commonly used to help diagnose autoimmune disorders.
Blood tests
Your doctor can use different blood tests to cross-check any symptoms you've described. One common test, known as an autoantibody screen, looks for antibodies that are attacking your own tissues (autoantibodies). While the presence of autoantibodies in your blood isn't enough to confirm an autoimmune disease diagnosis, it's a start.
Other blood tests your doctor may use include:
Imaging
Your doctor can use these tests to look for visible signs of an autoimmune disease. For instance, ultrasounds and x-rays can reveal joint issues, and MRIs can show damage deep in your body.
While there aren't any cures for autoimmune diseases yet, there are many kinds of treatment that help control your immune system response and manage your symptoms.
Medication
Your doctor can prescribe different medications depending on the type of autoimmune disorder you have, how serious it is, and what your symptoms are. Some drugs they may use to tamp down an overactive immune reaction include:
Steroids. A group of drugs called corticosteroids are often the first treatment because they work quickly and effectively to lessen your immune system's overactive response. But these slow down your entire immune system, which can come with serious side effects.
Some other drugs focus only on slowing down part of your immune system and come with fewer side effects. These can target cells that make certain antibodies or get rid of specific proteins in your immune system.
Anti-inflammatory drugs. These medications help control your immune system while still supporting organ function. For instance, anti-TNF medications fight tumor necrosis factor (TNF), a protein that spurs inflammation. These are used to treat some forms of autoimmune arthritis and psoriasis. And nonsteroidal anti-inflammatory drugs (NSAIDs) help ease pain, swelling, and stiffness.
Then there are drugs and treatments to help manage symptoms, including:
Your doctor may prescribe medications to supplement substances your body is low on due to your autoimmune disease, such as insulin, thyroid hormone, or vitamin B12.
If the disorder affects your blood, they may also do blood transfusions.
Lifestyle changes
Aside from medications, doctors often suggest shifts in personal habits as part of treatment. Exercise or physical therapy are common for autoimmune diseases that affect your muscles, such as myositis and multiple sclerosis. For those with autoimmune diseases that affect blood vessels, quitting smoking can help.
There are many types of autoimmune diseases, which result when your immune system mistakenly attacks healthy body tissues. Scientists aren't sure why this happens. Most treatments aim to calm your overactive immune system.
What are the 10 most common autoimmune diseases?
While there are more than 100 different kinds of autoimmune disorders, the most common ones include:
What are the most serious autoimmune diseases?
While any autoimmune disease can be hard to manage day to day, there are a few that can be fatal:
Giant cell myocarditis. Though rare, giant cell myocarditis is a life-threatening autoimmune condition that attacks your heart muscle. It has a one-year death rate of 70%.
Mixed connective tissue disease (MCTD). Also rare, this disease has the symptoms of a range of autoimmune diseases such as lupus, scleroderma, and polymyositis. Many people with MCTD also have Sjögren's syndrome, and the disease can lead to serious problems, some of which can be fatal.
What can trigger autoimmune disease?
Typically, one or more triggers in your everyday environment can make your immune system start to attack itself. Some things that can cause an autoimmune disease include:
Is eczema an autoimmune disease?
While your immune system plays a role in eczema, and drugs that suppress your immune system can treat it, it's not technically considered an autoimmune disorder. That's because it doesn't result from an immune system attack on a specific target in your body.
What You Need To Know About Muscular Dystrophy
Symptoms, age of onset, and outlook depend on a person's type of muscular dystrophy. Read on for more about this group of conditions and how they may affect you.
Muscular dystrophies affect people of all sexes. However, the two most common types, Duchenne and Becker, are much more common in males assigned at birth (MAAB).
Combined, muscular dystrophies affect about 32 in 100,000 people in the United States, according to the Centers for Disease Control and Prevention (CDC).
Muscular dystrophy is a group of conditions that damage and weaken your muscles over time.
This damage and weakness are due to the lack of a protein called dystrophin, which is necessary for typical muscle function. A deficiency of this protein can cause problems with walking, swallowing, and muscle coordination, among other symptoms.
Most diagnoses occur in childhood, although they can occur at any age. The outlook for muscular dystrophy depends on the type of muscular dystrophy and the severity of symptoms.
There are several types of muscular dystrophy, which vary in symptoms and severity. They include:
1. Duchenne muscular dystrophy (DMD)Duchenne muscular dystrophy (DMD) is the most common among children. Most individuals affected are children assigned male at birth. It's rare for children assigned female at birth to develop it.
Studies estimate the incidence of DMD to be about 1 in 3,600 male infants born in the United States. The U.S. Prevalence rate may be as high as 2 per 10,000.
Symptoms tend to begin between ages 2 and 6 years. They include:
Most people with DMD start using a wheelchair before their teenage years.
In the past, people lived with DMD into their late teens or 20s. However, it's now more common for people to live into their 30s. This is due in part to advances in medical treatment, including cardiac and respiratory care.
2. Becker muscular dystrophy (BMD)Both Becker muscular dystrophy (BMD) and DMD are caused by a problem in skeletal muscle producing dystrophin. Dystrophin is completely absent in DMD, whereas people with BMD have some, but it's not enough for normal functioning.
As a result, BMD is similar in symptoms to DMD but less severe. Muscle weakness occurs mostly in the arms and legs, with symptoms appearing between ages 11 and 25 years.
Other BMD symptoms include:
This type of muscular dystrophy is also more common in children assigned male at birth. Many with this condition won't choose to use a wheelchair until they're in their mid-30s or older, and a small percentage of people never require one. Most people with BMD live until middle age or later.
In the United States, BMD occurs in about 0.26 per 10,000 males. Combined, DMD and BMD affect 14 in 100,000 males ages 5–24 years.
3. Congenital muscular dystrophy (CMD)Congenital muscular dystrophy (CMD) is often apparent between birth and 2 years old. This is when parents begin noticing that their child's motor functions and muscle control aren't developing as they should.
Symptoms vary and may include:
Symptoms range from mild to severe. The lifespan of someone with this type of muscular dystrophy also varies, depending on their symptoms. Some people with CMD pass away in infancy, while others live until adulthood.
About 1 in 100,000 people of all ages in the United States live with congenital muscular dystrophy.
4. Myotonic dystrophy (DM)This form of muscular dystrophy causes myotonia, which is an inability to relax your muscles after they contract. Myotonic dystrophy is also called Steinert's disease.
People with other types of muscular dystrophy don't experience myotonia, but it's a symptom of other muscle diseases.
Myotonic dystrophy can affect your:
Symptoms most often appear first in the face and neck. They include:
This dystrophy type may also cause impotence and testicular atrophy. In others, it may cause irregular periods and infertility.
About 8 in 100,000 people in the United States have myotonic dystrophy (DM). It affects all sexes equally.
DM diagnoses are most likely to occur in adults in their 20s. The severity of symptoms can vary greatly. Some people experience mild symptoms, while others have potentially life threatening symptoms involving the heart and lungs. Many people with the condition live a long life.
5. Facioscapulohumeral muscular dystrophy (FSHD)Facioscapulohumeral muscular dystrophy (FSHD) affects the muscles in the face, shoulders, and upper arms. This type of muscular dystrophy is also known as Landouzy-Dejerine disease.
FSHD may cause:
A smaller number of people with FSHD may develop hearing and respiratory problems.
FSHD tends to progress slowly. Symptoms usually appear during teenage years, but they sometimes don't appear until a person is in their 40s. Most people with this condition live a full life span.
About 4 in 100,000 people in the United States live with FSHD.
6. Limb-girdle muscular dystrophy (LGMD)Limb-girdle muscular dystrophy (LGMD) refers to a group of more than 20 inherited conditions. They cause muscle weakening and a loss of muscle bulk. The symptoms usually begin in the shoulders and hips but may also occur in the legs and neck.
You may find it hard to get up out of a chair, use stairs, and carry heavy items if you have LGMD. You may also stumble and fall more easily.
Overall, about 2 in 100,000 people in the United States live with LGMD.
Many people with this form of muscular dystrophy experience severe disability within 20 years of diagnosis.
7. Oculopharyngeal muscular dystrophy (OPMD)Oculopharyngeal muscular dystrophy (OPMD) causes weakness in your facial, neck, and shoulder muscles. Other symptoms include:
OPMD is one of the rarer types of muscular dystrophy, affecting fewer than 1 in 100,000 people in the United States. Individuals usually begin to experience symptoms in their 40s or 50s.
8. Distal muscular dystrophyDistal muscular dystrophy is also called distal myopathy. It's a group of over six diseases affecting the muscles furthest from the shoulders and hips, specifically the:
The condition may also affect your respiratory system and heart muscles. The symptoms tend to progress slowly and include a loss of fine motor skills and difficulty walking.
Most people develop symptoms of distal muscular dystrophy between ages 40 and 60 years.
This condition is also particularly rare, affecting fewer than 1 in 100,000 people in the United States.
9. Emery-Dreifuss muscular dystrophy (EDMD)Emery-Dreifuss muscular dystrophy (EDMD) usually begins in childhood and tends to affect more children assigned male at birth than children assigned female at birth. The symptoms include:
Fewer than 1 in 100,000 people of all ages in the United States are affected by EDMD.
By 30 years old, nearly all people with EDMD have a heart issue that requires intervention, such as a pacemaker. The most common causes of limited life expectancy are progressive heart or lung issues.
Differences in genes cause muscular dystrophy.
Thousands of genes are responsible for the proteins that determine muscle integrity. People carry genes on 23 pairs of chromosomes, with one-half of each pair inherited from a biological parent.
One of these pairs of chromosomes is sex-linked. This means the traits or conditions you inherit as a result of those genes may depend on your sex or the sex of your parent. The other 22 pairs are not sex-linked and are also known as autosomal chromosomes.
A change in one gene can lead to deficiencies in dystrophin, a critical protein. The body may not make enough dystrophin, may not make it the right way, or may not make it at all.
People develop muscular dystrophy in one of four ways. The gene differences that cause muscular dystrophy are normally inherited, but they can also come from a spontaneous mutation.
Autosomal dominant inherited disorderA person inherits a gene difference from just one parent, on one of the 22 autosomal chromosomes.
Each child has a 50% chance of inheriting muscular dystrophy, and people of all sexes are equally at risk. Because this is a dominant gene, only one parent needs to be a carrier for their child to develop muscular dystrophy.
Autosomal recessive inherited disorderA person inherits a gene difference from both parents, on one of the 22 autosomal chromosomes. The parents are carriers of the gene but don't develop muscular dystrophy themselves.
Children have a 50% chance of inheriting one copy of the gene and becoming carriers. They have a 25% chance of inheriting both copies. All sexes carry the risk equally.
Sex-linked (X-linked) disorderThis inheritance is connected to the genes linked to the X chromosome.
Parents may carry two X chromosomes or an X and a Y chromosome. A child receives an X chromosome from one parent and either an X or a Y chromosome from the other. If a child receives a gene difference on the X chromosome from the parent with two X chromosomes, they'll become carriers of the gene or develop muscular dystrophy.
A child with a faulty X chromosome develops muscular dystrophy if they also inherit a Y chromosome (as is typically the case with children assigned male at birth).
They're only carriers if they inherit an X chromosome from the other parent (as with children assigned female at birth). This other X chromosome offsets the effect of the X chromosome with the gene difference, as it can produce dystrophin.
Spontaneous mutationIn this case, muscular dystrophy develops because of a spontaneous change in genes. It occurs in people whose biological parents were not carriers of the gene difference.
Once the change occurs, the carrier can pass it on to their children.
Muscular dystrophy progresses a bit differently for every person. Complications also vary depending on the type of muscular dystrophy. Some of the more common complications affect:
Progressive muscle weakness can eventually limit mobility. Many people with muscular dystrophy will eventually use assistive technology and devices, such as a wheelchair. Specially designed wheelchairs can improve comfort, possibly reduce pain, and provide adequate muscle support.
Respiratory issuesMuscular dystrophy can cause breathing problems, as muscle weakness makes breathing harder. Trouble swallowing can lead to aspiration, or having substances in the airway or lungs. Overall, it's harder for the respiratory system to do its job of bringing oxygen into the body and exhaling carbon dioxide.
Cardiac issuesThe lack of dystrophin can also affect the heart since it's a muscle.
People with muscular dystrophy often have cardiomyopathy or heart muscle disease. As part of ongoing muscular dystrophy treatment, doctors assess your heart health and may recommend heart medication.
Contractures and scoliosisMuscular dystrophy can also affect the skeletal muscles, which allow for flexibility in the tendons and joints. The result is a pulling of tendons and joints into a flexed position, which can become permanent. This is called a contracture.
Weakness in the spinal muscles can cause scoliosis, a curvature of the spine.
Some contractures may be relieved with surgery. Corticosteroids and physical therapy may help prevent the onset of scoliosis.
Pregnancy considerationsPeople with muscular dystrophy who become pregnant are also at a greater risk for complications during gestation and labor.
For example, muscle weakness in the legs, hips, and abdominal muscles may make it hard to push during labor, increasing the chance of cesarean delivery or other interventions.
The generalized muscle weakness that can come with myotonic dystrophy can lead to pregnancy loss. Pregnancy can also lead to people with myotonic dystrophy experiencing a faster onset of their condition and a worsening of their symptoms.
A number of tests can help your doctor diagnose muscular dystrophy. Your doctor can perform:
There's currently no cure for muscular dystrophy, but treatments can help manage your symptoms and slow disease progression.
Treatments depend on your symptoms and the kind of muscular dystrophy you have. For example, since many different mutations can cause BMD and DMD, some emerging treatments that might work for DMD, might not work for BMD, and vice versa.
MedicationsThe Food and Drug Administration (FDA) has approved new treatments for some people with DMD. Many of these treatments use a new process called "exon skipping," where the faulty segment (exon) of the dystrophin gene is patched over so the body can produce the protein.
These new treatments include:
In 2023, the FDA approved Elevidys, the first gene therapy drug for children ages 4–5 years with certain types of DMD. It's administered as a single injection and causes the body to make a shortened version of the dystrophin protein.
Additional research is underway for a potential cure for DMD. In 2018, scientists found a way to repair a gene in canine subjects, ensuring adequate dystrophin production. They hope to one day use this advanced gene editing technique in people with DMD.
Other research is ongoing in the space of gene therapy for treating muscular dystrophy.
Muscle therapyForms of muscle therapy have proven to be effective. These techniques involve working with a professional to improve physical function. Types of therapy include:
Occupational therapy, a process that focuses on daily activities, can help those with muscular dystrophy:
Other treatment options include:
Muscular dystrophies are genetic conditions. A family history of muscular dystrophy is a risk factor for being a carrier or developing muscular dystrophy.
Because DMD and BMD are linked to the X chromosomes, children assigned male are much more likely to experience them.
However, even though children assigned female receive an X chromosome from each parent and should have adequate dystrophin production, they can still experience symptoms of DMD or BMD, such as muscle cramps, weakness, and heart issues.
What is the life expectancy of muscular dystrophy?The life expectancy of a person living with muscular dystrophy depends on the type. For example, people with BMD tend to live for about 40–50 years, while most individuals with EDMD may live through middle age.
Can you fully recover from muscular dystrophy?There's currently no known cure for any of the muscular dystrophies, but treatments and therapies are available.
What is the earliest age of muscular dystrophy?Congenital muscular dystrophy typically develops from birth.
A person's type of muscular dystrophy largely determines their symptoms, age of onset, and outlook.
Breakthrough research and medications have the potential to slow the progression of DMD symptoms and offer more advanced medical options for many people with muscular dystrophy and their families.
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