Autoimmune Diseases and their Symptoms

Autoimmune diseases that affect the skin and connective tissue

People with an autoimmune disease can live a relatively normal life.

The following sections will discuss some autoimmune conditions affecting the skin.

Psoriasis 

Psoriasis causes patches of flaky, inflamed skin. This occurs due to the skin producing too many new skin cells. Psoriasis is usually not a serious condition, but it can be painful or distressing.

The symptoms of psoriasis include:

  • thick, inflamed patches of skin, usually on the head, elbows, and knees
  • scaly skin
  • itching
  • pain

People with psoriasis sometimes also develop psoriatic arthritis, which causes joint inflammation. This affects 10–20% of people with psoriasis.

Treatment options include biologics, methotrexate, topical ointments, and UV light therapy.

Vitiligo

Vitiligo is a chronic condition that causes the skin to lose its color. One type of vitiligo, called non-segmental vitiligo, is an autoimmune disease. 

Dermatologists believe that it occurs when the immune system attacks melanocytes, which are cells that produce melanin. 

It is not uncommon for vitiligo to occur alongside other autoimmune conditions, such as lupus and Sjogren’s syndrome.

The symptoms of vitiligo include:

  • white or light patches of skin on the hands, feet, arms, and face
  • white or gray hair on the scalp, brows, or eyelashes 
  • discoloration on the inside of the mouth and nose

Vitiligo is not harmful to the body, but it can be very distressing for some people, especially those with darker skin. Certain treatments can slow or stop the discoloration, including medications and UV light therapy.

Scleroderma

Scleroderma causes an abnormal growth of connective tissue in the skin and blood vessels, leading to skin that is hard and thick. 

In some people, the condition is mild, but in some others, scleroderma can affect internal organs and be life threatening.

Symptoms include:

  • calcium deposits in the connective tissues
  • Raynaud’s phenomenon, which causes the fingers to change color when they are cold 
  • ulcers on the fingertips, which can lead to gangrene
  • thickening and tightness of the skin on the fingers and toes
  • loss of motility in the esophagus, which may make it difficult to swallow
  • red spots or blood vessels on the face
  • progressive shortness of breath

There is currently no cure for scleroderma, but a person can treat the symptoms using medications for heartburn and bowel discomfort. Sometimes, a doctor may also recommend immunosuppressants, especially for fibrosing (scarring) lung disease.

Autoimmune diseases that affect the blood

The following sections will discuss some autoimmune conditions affecting the blood.

Hemolytic anemia

Hemolytic anemia occurs when the immune system destroys a person’s red blood cells. This causes an oxygen deficiency, leading to symptoms such as:

  • fatigue
  • shortness of breath
  • dizziness
  • headache
  • cold hands or feet
  • yellow skin or whites of the eyes
  • cardiovascular problems, including heart failure

Doctors treat hemolytic anemia with corticosteroids, which reduce inflammation, and immunosuppressant drugs, which lower immune system activity.

A doctor might also consider a splenectomy, which refers to the surgical removal of the spleen. The spleen removes damaged red blood cells from circulation, so by removing it, a person is less likely to have low red blood cell levels.

However, autoimmune processes can also affect other blood cells. When they affect platelets, it can lead to thrombocytopenia. When they affect white blood cells, it can give rise to leukopenia, lymphopenia, and neutropenia.

Autoimmune diseases that affect the digestive system

The following sections will discuss some autoimmune conditions affecting the digestive system.

Celiac disease

In celiac disease, a person’s immune system reacts to gluten, which is a protein that foods such as bread, pasta, and barley contain. 

If a person with celiac disease eats gluten, they may experience:

  • abdominal bloating and pain
  • diarrhea or constipation
  • weight loss
  • fatigue
  • joint pain
  • missed menstrual periods
  • an itchy rash

Repeated exposure to gluten may damage the intestinal lining. However, most people with celiac disease can prevent these symptoms by removing sources of gluten from their diet.

Inflammatory bowel disease 

Inflammatory bowel disease (IBD) causes chronic inflammation of the digestive tract, giving rise to pain and irritation. 

The most common forms of IBD are Crohn’s disease and ulcerative colitis.

The symptoms of IBD can include:

  • abdominal pain
  • diarrhea, which is sometimes bloody
  • mouth ulcers 
  • painful or difficult bowel movements
  • rectal bleeding
  • fever
  • weight loss
  • fatigue

IBD does not currently have a cure, but people may see an improvement in symptoms and their quality of life by changing their eating habits. Medications such as aminosalicylates, corticosteroids, and immunosuppressants — including biologics — can also help.

Autoimmune diseases that affect the hormones

The following sections will discuss some autoimmune conditions affecting the hormones.

Type 1 diabetes

In type 1 diabetes, the immune system attacks the cells in the pancreas that make insulin. Insulin is a hormone that controls blood sugar levels. 

Without the hormone, a person’s blood sugar level remains high, causing symptoms such as:

  • thirst
  • a frequent need to urinate
  • hunger
  • fatigue
  • unintentional weight loss
  • slow wound healing
  • dry or itchy skin
  • numbness or tingling in the feet
  • blurry vision
  • confusion

People with type 1 diabetes can manage the condition with daily insulin injections to balance out the amount of carbohydrates they eat. 

Unlike type 2 diabetes, a person cannot prevent type 1 diabetes by making diet or lifestyle changes. However, monitoring diet and exercise levels can help reduce symptoms.

Graves’ disease

Graves’ disease causes the thyroid gland to become overactive and produce too much thyroid hormone. This can cause a range of symptoms, including:

  • heat sensitivity
  • sweating
  • fine or brittle hair
  • muscle weakness
  • insomnia
  • irritability
  • weight loss
  • light menstrual periods or no periods
  • bulging eyes
  • shaky hands
  • racing heartbeat

There are several treatment options for Graves’ disease. Antithyroid medications can lower thyroid hormone levels, and radioactive iodine damages the thyroid cells so that they do not produce as much hormone. In severe cases, a doctor may recommend removing part or all of the thyroid gland.

Hashimoto’s thyroiditis

Hashimoto’s thyroiditis is an autoimmune condition wherein the immune system attacks the thyroid gland, causing it to produce less thyroid hormone. 

This usually leads to an underactive thyroid, which causes symptoms such as:

  • fatigue
  • hair loss
  • muscle aches
  • facial swelling
  • constipation
  • weakness
  • weight gain
  • sensitivity to cold
  • stiff joints

The main treatment for Hashimoto’s thyroiditis is a daily dose of levothyroxine, which increases thyroid hormone levels.

Learn more about Hashimoto’s thyroiditis here.

Autoimmune diseases that affect the nervous system

The following sections will discuss some autoimmune conditions affecting the nervous system.

Multiple sclerosis

In multiple sclerosis (MS), the immune system mistakenly attacks the myelin sheath that protects the nerves. This causes damage, affecting the transmission of information to and from the brain and spinal cord and the nerves they connect with.

The symptoms of MS include:

  • paralysis
  • tremors
  • weakness in the extremities 
  • difficulty with coordination, balance, speaking, and walking
  • numbness or tingling in the arms, legs, hands, and feet
  • vision loss

There is currently no cure for MS, but some medications may reduce the symptoms and the underlying disease process. The type of medication that the condition responds to will vary from case to case.

Guillain-Barre syndrome

Guillain-Barre syndrome occurs when the immune system attacks healthy nerves, disrupting the electrical signals the nerves send to the brain. This may cause:

  • muscle weakness and unsteadiness
  • vision problems
  • difficulty chewing or swallowing
  • pins and needles in the hands or feet
  • lack of bladder control
  • chronic pain
  • unusual heart rate or blood pressure
  • breathing problems

Guillain-Barre syndrome is a rare condition that can be severe, but with medical support, recovery is possible. 

To treat and prevent further nerve damage, a doctor may use plasma exchange, high dose immunoglobulin therapy, and high dose steroids.

Autoimmune diseases that affect the joints

The following sections will discuss some autoimmune conditions affecting the joints.

Rheumatoid arthritis 

Rheumatoid arthritis occurs when the immune system attacks the lining of the joints (synovium), causing inflammation and discomfort. Rheumatoid arthritis can affect many joints, but it commonly affects the hands, wrists, and knees on both sides of the body.

Symptoms include:

  • pain or aching in the joints 
  • stiffness in multiple joints, especially in the morning
  • tenderness and swelling
  • fever
  • fatigue
  • weakness
  • weight loss
  • eye inflammation
  • lung disease
  • lumps of tissue under the skin, often near the elbows (rheumatoid nodules)
  • anemia

Doctors tend to treat this condition using antirheumatic drugs, including biologics, that slow disease progression and prevent joint deformity. 

Bottom Line:

There are many autoimmune diseases. Some cause distressing symptoms that affect a person’s quality of life but otherwise are not life threatening. Other autoimmune conditions are more serious and can cause lasting tissue damage.

In many cases, management strategies such as taking medication, modifying the diet, and making lifestyle changes can help reduce the symptoms. 

A doctor can help diagnose and recommend treatments for specific autoimmune conditions.

Diseases of Connective Tissue, from Genetic to Autoimmune

Diseases of connective tissue include a large number of different disorders that can affect skin, fat, muscle, joints, tendons, ligaments, bone, cartilage, and even the eye, blood, and blood vessels. Connective tissue holds the cells of our body together. It allows for tissue stretching followed by a return to its original tension (like a rubber band). It’s made up of proteins, such as collagen and elastin. Blood elements, such as white blood cells and mast cells, are also included in its makeup. 

Types of connective tissue disease

There are several types of connective tissue disease. It’s useful to think of two major categories. The first category includes those that are inherited, usually due to a single-gene defect called a mutation. The second category includes those where the connective tissue is the target of antibodies directed against it. This condition causes redness, swelling, and pain (also known as inflammation). 

Connective tissue diseases due to single-gene defects 

Connective tissue diseases due to single-gene defects cause a problem in the structure and strength of the connective tissue. Examples of these conditions include:

Connective tissue diseases characterized by inflammation of tissues

Connective tissue diseases characterized by inflammation of tissues are caused by antibodies (called autoantibodies) that the body incorrectly makes against its own tissues. These conditions are called autoimmune diseases. Included in this category are the following conditions, which are often handled by a medical specialist called a rheumatologist: 

  • Polymyositis
  • Dermatomyositis
  • Rheumatoid arthritis (RA)
  • Scleroderma
  • Sjogren’s syndrome
  • Systemic lupus erythematosis
  • Vasculitis

People with diseases of connective tissue may have symptoms of more than one autoimmune disease. In these cases, doctors often refer to the diagnosis as mixed connective tissue disease.

Causes and symptoms of genetic connective tissue disease

The causes and symptoms of connective tissue disease caused by single-gene defects vary as a result of what protein is abnormally produced by that defective gene.

Ehlers-Danlos syndrome

Ehlers-Danlos syndrome (EDS) is caused by a collagen formation problem. EDS is actually a group of over 10 disorders, all characterized by stretchy skin, abnormal growth of scar tissue, and over-flexible joints. Depending on the particular type of EDS, people may also have weak blood vessels, a curved spine, bleeding gums or problems with the heart valves, lungs, or digestion. Symptoms range from mild to extremely severe.

Epidermolysis bullosa

More than one type of epidermolysis bullosa (EB) occurs. Connective tissue proteins such as keratin, laminin, and collagen can be abnormal. EB is characterized by exceptionally fragile skin. The skin of people with EB often blisters or tears at even the slightest bump or sometimes even just from clothing rubbing against it. Some types of EB affect the respiratory tract, the digestive tract, the bladder, or the muscles. 

Marfan syndrome

Marfan syndrome is caused by a defect in the connective tissue protein fibrillin. It affects the ligaments, bones, eyes, blood vessels, and heart. People with Marfan syndrome are often unusually tall and slender, have very long bones and thin fingers and toes. Abraham Lincoln may have had it. Sometimes people with Marfan syndrome have an enlarged segment of their aorta (aortic aneurysm) which can lead to fatal bursting (rupture).

Osteogenesis imperfecta

People with different single-gene problems placed under this heading all have collagen abnormalities along with typically low muscle mass, brittle bones, and relaxed ligaments and joints. Other symptoms of osteogenesis imperfecta are dependent upon the specific strain of osteogenesis imperfecta they have. These may include thin skin, a curved spine, hearing loss, breathing problems, teeth that break easily, and a bluish gray tint to the whites of the eyes.

Causes and symptoms of autoimmune connective tissue disease

Connective tissue diseases due to an autoimmune condition are more common in people who have a combination of genes that increase the chance that they come down with the disease (usually as adults). They also occur more often in women than men.

Polymyositis and dermatomyositis

These two diseases are related. Polymyositis causes inflammation of the muscles. Dermatomyositis causes inflammation of the skin. The symptoms of both diseases are similar and may include fatigue, muscle weakness, shortness of breath, difficulty swallowing, weight loss, and fever. Cancer can be an associated condition in some of these patients.

Rheumatoid arthritis 

In rheumatoid arthritis (RA), the immune system attacks the thin membrane that lines the joints. This causes stiffness, pain, warmth, swelling, and inflammation throughout the body. Other symptoms may include anemia, fatigue, loss of appetite, and fever. RA can permanently damage the joints and lead to deformity. There are adult and less-common childhood forms of this condition.

Scleroderma

Scleroderma causes tight, thick skin, a buildup of scar tissue, and organ damage. The types of this condition fall into two groups: localized or systemic scleroderma. In localized cases, the condition is confined to the skin. Systemic cases also involve the major organs and blood vessels.

Sjogren’s syndrome

The main symptoms of Sjogren’s syndrome are dry mouth and eyes. People with this condition can also experience extreme fatigue and pain in the joints. The condition increases the risk of lymphoma and can affect the lungs, kidneys, blood vessels, digestive system, and nervous system.

Systemic lupus erythematosus (SLE or lupus)

Lupus causes inflammation of the skin, joints, and organs. Other symptoms may include a rash on the cheeks and nose, mouth ulcers, sensitivity to sunlight, fluid on the heart and lungs, hair loss, kidney problems, anemia, memory problems, and mental illness.

Vasculitis

Vasculitis is another group of conditions that affect the blood vessels in any area of the body. Common symptoms include loss of appetite, weight loss, pain, fever, and fatigue. Stroke can occur if blood vessels of the brain become inflamed.

Treatment

There is currently no cure for any of the connective tissue diseases. Breakthroughs in genetic therapies, where certain problem genes are silenced, hold promise for the single-gene diseases of connective tissue. 

For autoimmune diseases of connective tissue, treatment is aimed at helping to reduce the symptoms. Newer therapies for conditions such as psoriasis and arthritis can suppress the immune disorder that causes the inflammation. 

Commonly used medications used in the treatment of autoimmune connective tissue diseases are:

  • Corticosteroids. These medications help prevent the immune system from attacking your cells and prevent inflammation.
  • Immunomodulators. These medications benefit the immune system.
  • Antimalarial drugs. Antimalarials can help when symptoms are mild, they can also prevent flare-ups.
  • Calcium channel blockers. These medications help to relax the muscles in the walls of the blood vessels.
  • Methotrexate. This medication helps control symptoms of rheumatoid arthritis.
  • Pulmonary hypertension medications. These medications open the blood vessels in the lungs affected by autoimmune inflammation, allowing blood to flow more easily.

Surgically, an operation on an aortic aneurysm for a patient with Ehlers Danlos or Marfan’s syndromes can be lifesaving. These surgeries are particularly successful if performed prior to rupture.

Complications

Infections can often complicate autoimmune diseases.

Those with Marfan syndrome can have a burst or ruptured aortic aneurysm.

Osteogenesis Imperfecta patients can develop difficulty breathing due to spine and rib cage problems.

Patients with lupus often have fluid accumulation around the heart which can be fatal. Such patients can also have seizures due to vasculitis or lupus inflammation. 

Kidney failure is a common complication of lupus and scleroderma. Both these disorders and other autoimmune connective tissue diseases can lead to complications with the lungs. This can lead to shortness of breath, coughing, difficulty breathing, and extreme fatigue. In severe cases, the pulmonary complications of a connective tissue disease can be fatal.

Bottom Line:

There is a wide variability in how patients with single-gene or autoimmune connective tissue disease do in the long run. Even with treatment, connective tissue diseases often get worse. However, some people with mild forms of Ehlers Danlos syndrome or Marfan syndrome need no treatment and can live into old age. 

Thanks to newer immune treatments for autoimmune diseases, people can enjoy many years of minimal disease activity and can benefit when the inflammation “burns out” with advancing age. 

Overall, the majority of people with connective tissue diseases will survive for at least 10 years after their diagnosis. But any individual connective tissue disease, whether single-gene or autoimmune-related, can have a far worse prognosis.

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