Autoimmune diseases


An autoimmune disease develops when the body's immune system fails to recognize normal body tissues and attacks and destroys them as if they were foreign, rather than attacking an outside organism. The cause is not fully understood, but in some cases it is thought that autoimmune diseases are triggered by exposure to microorganisms or other environmental causes, especially in people with a genetic predisposition to the disorder. A single organ or multiple organs and tissues may be affected.

There are many autoimmune diseases with symptoms that range from mild rashes to life-threatening conditions that attack major organ systems. Though each disease is different, immune-system malfunction is present in all of them. Disease symptoms vary depending on which tissue is targeted for destruction. Symptoms common to all autoimmune disorders include fatigue, dizziness, malaise, and low-grade fever.

Autoimmune disorders are frequently classified into organ-specific disorders and non-organ-specific types. Organs and tissues frequently affected include the endocrine gland, such as thyroid, pancreas, and adrenal glands; components of the blood, such as red blood cells; and the connective tissues, skin, muscles, and joints.

In organ-specific disorders, the autoimmune process is directed mostly against one organ.  But patients may experience several organ-specific diseases at the same time. In non-organ-specific disorders, autoimmune activity is widely spread throughout the body. This includes Rheumatoid Arthritis (joints), Systemic Lupus Erythematosus, and Dermatomyositis (connective tissue).

According to the American Autoimmune Related Diseases Association, about 75 percent of autoimmune disease cases occur in women, particularly those who have had children. The cause is not fully understood, but in some cases it is thought to be triggered by exposure to microorganisms especially in people with a genetic predisposition to the disorder.

Common types of localized autoimmune disorders:

  • Addison's disease (adrenal)
  • Autoimmune hepatitis (liver)
  • Celiac disease (GI tract)
  • Crohn's disease (GI tract)
  • Graves' disease (overactive thyroid)
  • Guillain-Barre syndrome (central nervous system)
  • Hashimoto's thyroiditis (lowered thyroid function)
  • Multiple sclerosis
  • Raynaud’s phenomenon (fingers, toes, nose, ears)
  • Type 1 Diabetes Mellitus (pancreas islets)
  • Ulcerative colitis (GI tract)

Common types of systemic autoimmune diseases:

  • Lupus [Systemic Lupus Erythematosus] (skin, joints, kidneys, heart, brain, red blood cells, other)
  • Polymyalgia Rheumatica (large muscle groups)
  • Rheumatoid arthritis (joints; less commonly lung, skin, and Juvenile rheumatoid arthritis)
  • Scleroderma (skin, intestine, less commonly lung)
  • Sjogren's syndrome (salivary glands, tear glands, joints)
  • Systemic Sclerosis
  • Temporal Arteritis / Giant Cell Arteritis (arteries of the head and neck)

Types of autoimmune disease treated at SCCA with stem cell transplants

Multiple Sclerosis

Multiple Sclerosis is an autoimmune disease of the central nervous system with symptoms ranging from numbness and tingling to paralysis. In MS, the body attacks the myelin sheath, which coats nerves in the brain and spinal cord. As a result, the ability of the nerves to conduct electrical impulses to and from the brain is disrupted. An estimated 300,000 people in the United States have MS. More women are affected than men.

Risk factors: Scientists believe that several factors are involved in the development of MS: genetics, gender, and environmental factors (e.g., viruses, trauma and heavy metals). The incidence of MS is higher in more northern latitudes, suggesting an environmental component to the disease. Epidemiology surveys have determined that a person's risk of developing MS increases several-fold if a close family member has MS.

Symptoms: Symptoms are caused by the destruction of patches of myelin, a protective covering of nerve fibers in the brain and spinal cord. The symptoms can be mild, moderate or severe. 85 percent of the time, MS symptoms appear as a defined flare-up followed by long periods of remission. In more moderate cases, people with MS experience a progressive worsening of the disease with no distinct relapses or remissions. In the most severe cases, which are rare (5 percent), patients experience a progressive worsening of the disease and acute flare-ups. Symptoms of MS are unpredictable and vary greatly from person to person depending on the location of the nerve lesion. The symptoms include: abnormal fatigue, vision problems, dizziness, vertigo, bladder dysfunction, loss of balance and muscle coordination, slurred speech, tremors, stiffness, hearing loss, seizures, itching, numbness, sexual dysfunction, depression and pain.

Diagnosis: No single test is available to diagnose MS but several procedures are used. An MRI scan gives a view of the brain and makes it possible to visualize and count damaged areas or plaque in the brain and spinal cord. Evoked potential tests of electrical activity can detect a slowing in nerve impulses caused by demyelination. A spinal tap checks cerebrospinal fluid for signs of the disease. People with MS usually have elevated levels of IgG antibodies as well as oligoclonal bands in the cerebrospinal fluid. Sometimes, there are also certain proteins that break down products of myelin.

Systemic Lupus Erythematosus

Systemic Lupus Erythematosus is a chronic inflammatory disease characterized by inflammation in multiple organ systems, frequently involving skin, joints, and the kidneys. Lupus most commonly affects women between the ages of 20 and 40 years. The Lupus Foundation estimates that up to 1.5 million Americans have been diagnosed with lupus.

Symptoms: Lupus can affect any part of the body but most people experience symptoms in only a few organs. The most prevalent symptoms of lupus include achy joints, fever, arthritis, extreme fatigue, skin rashes and anemia. Symptoms also include, pain in the chest, butterfly-shaped rash across the cheeks and nose, sun or light sensitivity, hair loss, abnormal blood-clotting problems, Raynaud's Phenomenon (fingers turning white and/or blue in the cold), seizures and ulcers in the nose and mouth.

Diagnosis: A diagnosis may be difficult because many of the symptoms are similar to other diseases. To help doctors diagnose lupus, the American College of Rheumatology has issued a list of symptoms to distinguish lupus from other diseases. The individual should have four or more of the symptoms to confirm a diagnosis of lupus.

Risk factors: A number of environmental factors play a critical role in triggering lupus. Those include infection, antibiotics, ultraviolet light, extreme stress, certain drugs and hormones. While there is no known gene or genes thought to cause lupus, the disease is known to occur within families. Lupus can occur at any age and is 10-15 times more frequent among adult women. The disease shows an increase of symptoms before menstrual periods and during pregnancy, which supports the belief that the hormone estrogen may play a role in the disease.

Systemic Sclerosis

The most common manifestation of systemic sclerosis is Scleroderma (hard skin). The thickening and hardening of the skin-and possibly of other organs, is caused by the production of too much collagen. Early indications of the disease include joint pain and swelling of the hands, tightening skin and sensitivity to cold. This reaction to temperature changes occurs when the blood vessels in the fingers and toes narrow and may spasm when exposed to extremes of cold or heat, resulting in color change (Raynaud's phenomenon). The fingers become swollen and small blood vessels may be prominent; gradually the skin over the face and fingers becomes thickened and tight. In severe cases the lungs, heart and kidneys can be affected.

Treatment of Scleroderma is difficult and the condition tends to progress gradually. However, rapid progression of the disease is seen in more severe cases.

There are two kinds of Scleroderma: The systemic form, which affects the internal organs as well as the skin, and the localized form, which affects a specific area of skin. Possibly as many as 300,000 people in the United States have Scleroderma with about four times as many women as men being affected.

Risk factors: In most cases, the cause of Systemic Sclerosis is unknown.

Symptoms: Generalized symptoms can include: Raynaud's phenomenon, swollen, painful and or stiff joints; thickening of skin, difficulty swallowing, weight loss, fatigue, muscle aches and joint weakness, shortness of breath.

Diagnosis: A diagnosis may be very difficult in the early stages because many of the symptoms overlap with other diseases such as Rheumatoid Arthritis, Lupus, and Polymyositis. Confirmation may depend on blood studies and specific organ function tests. Diagnosis is aided by the presence of auto-antibodies in the blood.

Other autoimmune diseases treated at SCCA 

  • Autoimmune Cerebellar Degeneration
  • Autoimmune Peripheral Neuropathies
  • Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)
  • Gait Ataxia with Late Age Onset Polyneuropathy (GALOP)
  • Lambert Eaton Myasthenic Syndrome
  • Myasthenia Gravis
  • Opsoclonus/Myoclonus (Anti-Ri)
  • Rasmussen's Encephalitis
  • Stiff Person Syndrome
  • Tropical Spastic Paraperesis\ HTLV-1 Associated Myelopathy (TSP/HAM)

Autoimmune diseases that affect blood cells are discussed in our blood disorders section.

  • Immune thrombocytopenia purpura (ITP)
  • Autoimmune hemolytic anemia
  • Autoimmune neutropenia

Learn More About Blood Disorders