Diseases & Conditions
Autoimmune Disorders
An autoimmune disorder is a malfunction of the body's immune system that causes the body to attack its own tissues. Autoimmune disorders can be triggered in many ways. Symptoms vary depending on which disorder develops and which part of the body is affected. Several blood tests are usually needed to confirm the presence of an autoimmune disorder Autoimmune disorders are treated with drugs that suppress the activity of the immune system.
The immune system defends the body against what it perceives to be foreign or dangerous substances (see Biology of the Immune System: Recognition ). Such substances include microorganisms, parasites (such as worms), cancer cells, and even transplanted organs and tissues. Substances that can stimulate an immune response are called antigens. Antigens are molecules that may be contained within cells or on the surface of cells (such as bacteria, viruses, or cancer cells). Some antigens, such as pollen or food molecules, exist on their own.
Even cells in a person's own tissues can have antigens. But, normally, the immune system reacts only to antigens from foreign or dangerous substances, not to antigens from a person's own tissues. However, the immune system sometimes malfunctions, interpreting the body's own tissues as foreign and producing antibodies (called autoantibodies) or immune cells that target and attack particular cells or tissues of the body. This response is called an autoimmune reaction. It results in inflammation and tissue damage. Such effects may constitute an autoimmune disorder, but some people produce such small amounts of autoantibodies that an autoimmune disorder does not occur.
Some of the more common autoimmune disorders include rheumatoid arthritis, systemic lupus erythematosus (lupus), and vasculitis, among others. Additional diseases that are believed to be due to autoimmunity include glomerulonephritis, Addison's disease, mixed connective tissue disease, polymyositis, Sjögren's syndrome, progressive systemic sclerosis, and some cases of infertility.
Some Autoimmune Disorders
Disorder
Main Tissues Affected
Consequences
Autoimmune hemolytic anemia
Red blood cells
Anemia (decreased number of red blood cells) develops, causing fatigue, weakness, and light-headedness.
The spleen may enlarge.
The anemia can be severe and even fatal.
Bullous pemphigoid Skin Large blisters, surrounded by red, swollen areas, form on the skin. Itching is common.
With treatment, the prognosis is good.
Goodpasture's syndrome
Lungs and kidneys
Symptoms, such as shortness of breath, coughing up blood, fatigue, swelling, and itching, may develop.
The prognosis is good if treatment begins before severe lung or kidney damage occurs.
Graves' disease
Thyroid gland
The thyroid gland is stimulated and enlarged, resulting in high levels of thyroid hormones (hyperthyroidism).
Symptoms may include a rapid heart rate, intolerance of heat, tremor, weight loss, and nervousness.
With treatment, the prognosis is good.
Hashimoto's thyroiditis
Thyroid gland
The thyroid gland is inflamed and damaged, resulting in low levels of thyroid hormones (hypothyroidism).
Symptoms may include weight gain, coarse skin, intolerance to cold, and drowsiness.
Lifelong treatment with thyroid hormone is necessary and usually relieves the symptoms completely.
Multiple sclerosis
Brain and spinal cord
The covering of affected nerve cells is damaged. As a result, cell cannot conduct nerve signals normally.
Symptoms may include weakness, abnormal sensations, vertigo, problems with vision, muscle spasms, and incontinence. Symptoms vary over time and may come and go.
The prognosis varies.
Myasthenia gravis
The connection between nerves and muscles (neuromuscular junction)
Muscles, particularly those of the eyes, weaken and tire easily, but the weakness varies in intensity. The pattern of progression varies widely.
Drugs can usually control the symptoms.
Pemphigus
Skin
Large blisters form on the skin.
The disorder can be life threatening.
Pernicious anemia
Certain cells in the stomach's lining
Damage to cells in the stomach's lining makes absorbing vitamin B 12 difficult. (Vitamin B 12 is necessary for the production of mature blood cells and the maintenance of nerve cells.) Anemia results, often causing fatigue, weakness, and light-headedness. Nerves can be damaged, resulting in weakness and loss of sensation.
Without treatment, the spinal cord may be damaged, eventually contributing to loss of sensation, weakness, and incontinence.
The risk of stomach cancer is increased. Otherwise, with treatment, the prognosis is good.
Rheumatoid arthritis
Joints or other tissues, such as lung, nerve, skin, and heart tissue
Many symptoms are possible. They include fever, fatigue, joint pain, joint stiffness, deformed joints, shortness of breath, loss of sensation, weakness, rashes, chest pain, and swellings under the skin.
The prognosis varies.
Systemic lupus erythematosus (lupus)
Joints, kidneys, skin, lungs, heart, brain, and blood cells
The joints, although inflamed, do not become deformed.
Symptoms of anemia, such as fatigue, weakness, and light-headedness, and those of kidney, lung, or heart disorders, such as fatigue, shortness of breath, itching, and chest pain, may occur.
A rash may develop.
The prognosis varies widely, but most people can lead an active life despite occasional flare-ups of the disorder.
Type 1 diabetes mellitus Beta cells of the pancreas (which produce insulin)
Symptoms may include excessive thirst, urination, and appetite, as well as various long-term complications.
Lifelong treatment with insulin Some Trade Names HUMULIN NOVOLIN is needed, even if the destruction of pancreatic cells stops, because not enough pancreatic cells remain to produce enough insulin.
The prognosis varies greatly and tends to be worse when the disease is severe and lasts a long time.
Vasculitis
Blood vessels
Vasculitis can affect blood vessels in one part of the body (such as the nerves, head, skin, kidneys, lungs, or intestine) or several parts. There are several types. Symptoms (such as rashes, abdominal pain, weight loss, difficulty breathing, cough, chest pain, headache, loss of vision, and symptoms of nerve damage or kidney failure) depend on which part of the body is affected.
The prognosis depends on the cause and how much tissue is damaged. Usually, the prognosis is much better with treatment.
Causes
Autoimmune reactions can be triggered in several ways:
A substance in the body that is normally confined to a specific area (and thus is hidden from the immune system) is released into the bloodstream. For example, a blow to the eye can cause the fluid in the eyeball to be released into the bloodstream. The fluid stimulates the immune system to recognize the eye as foreign and attack it. A normal body substance is altered, for example, by a virus, a drug, sunlight, or radiation. The altered substance may appear foreign to the immune system. For example, a virus can infect and thus alter cells in the body. The virus-infected cells stimulate the immune system to attack. A foreign substance that resembles a natural body substance may enter the body. The immune system may inadvertently target the similar body substance as well as the foreign substance. For example, the bacteria that cause strep throat have some antigens that are similar to those in human heart cells. Rarely, the immune system may attack a person's heart after strep throat (this reaction is part of rheumatic fever). The cells that control antibody production—for example, B lymphocytes (a type of white blood cell)—may malfunction and produce abnormal antibodies that attack some of the body's cells. Heredity may be involved in some autoimmune disorders. Susceptibility to the disorder, rather than the disorder itself, may be inherited. In susceptible people, a trigger, such as a viral infection or tissue damage, may cause the disorder to develop. Hormonal factors may also be involved, because many autoimmune disorders are more common among women.
Symptoms and Diagnosis
Autoimmune disorders may cause a fever. However, symptoms vary depending on the disorder and the part of the body affected. Some autoimmune disorders affect certain types of tissue throughout the body—for example, blood vessels, cartilage, or skin. Other autoimmune disorders affect a particular organ. Virtually any organ, including the kidneys, lungs, heart, and brain, can be affected. The resulting inflammation and tissue damage can cause pain, deformed joints, weakness, jaundice, itching, difficulty breathing, accumulation of fluid (edema), delirium, and even death.
Blood tests that indicate the presence of inflammation may suggest an autoimmune disorder. For example, the erythrocyte sedimentation rate (ESR) is often increased, because proteins that are produced in response to inflammation interfere with the ability of red blood cells (erythrocytes) to remain suspended in blood. Frequently, the number of red blood cells is decreased (anemia) because inflammation decreases their production. However, inflammation has many causes, many of which are not autoimmune. Thus, doctors often obtain blood tests to detect different antibodies that can occur in people who have particular autoimmune disorders. Examples of these antibodies are antinuclear antibodies, which are typically present in systemic lupus erythematosus, and rheumatoid factor or anti-cyclic citrullinated peptide (anti-CCP) antibodies, which are typically present in rheumatoid arthritis. But even these antibodies may sometimes occur in people who do not have an autoimmune disorder, so doctors usually use a combination of test results and the person's signs and symptoms to decide whether an autoimmune disorder is present.
Did You Know...
Antigens, substances that can trigger an immune response, can even exist on a person's own cells. Autoimmune disorders or susceptibility to autoimmune disorders may be inherited. Virtually any organ can be affected by an autoimmune disorder.
Treatment
Treatment involves control of the autoimmune reaction by suppressing the immune system. However, many of the drugs used to control the autoimmune reaction also interfere with the body's ability to fight disease, especially infections.
Drugs that suppress the immune system (immunosuppressants), such as azathioprine Some Trade Names IMURAN , chlorambucil Some Trade Names LEUKERAN , cyclophosphamide Some Trade Names CYTOXAN , cyclosporine Some Trade Names SANDIMMUNE NEORAL , mycophenolate, and methotrexate Some Trade Names RHEUMATREX , are often given, usually by mouth and often for a long time (see Transplantation: Drugs Used to Prevent Transplant Rejection ). However, these drugs suppress not only the autoimmune reaction but also the body's ability to defend itself against foreign substances, including microorganisms that cause infection and cancer cells. Consequently, the risk of certain infections and cancers increases.
Often, corticosteroids, such as prednisone Some Trade Names DELTASONE METICORTEN , are given, usually by mouth. These drugs relieve inflammation as well as suppress the immune system. Corticosteroids given for a long time have many side effects (see Joint Disorders: Corticosteroids: Uses and Side Effects ). When possible, corticosteroids are used for a short time—when the disorder begins or when symptoms worsen. However, corticosteroids must sometimes be used indefinitely.
Certain autoimmune disorders (for example, multiple sclerosis and thyroid disorders) are also treated with drugs other than immunosuppressants and corticosteroids. Treatment to relieve symptoms may also be needed.
Etanercept Some Trade Names ENBREL , infliximab Some Trade Names REMICADE , and adalimumab block the action of tumor necrosis factor (TNF), a substance that can cause inflammation in the body. These drugs are very effective in treating rheumatoid arthritis, but they may be harmful if used to treat certain other autoimmune disorders, such as multiple sclerosis. These drugs can also increase the risk of infection and certain cancers.
Certain new drugs specifically target white blood cells. White blood cells help defend the body against infection but also participate in autoimmune reactions. Abatacept blocks the activation of one kind of white blood cell (T cell) and is used in rheumatoid arthritis. Rituximab Some Trade Names RITUXAN , first used against certain white blood cell cancers, works by depleting certain white blood cells (B lymphocytes) from the body. It is effective in rheumatoid arthritis and is under evaluation in a variety of autoimmune disorders. Other agents directed against white blood cells are being developed.
Plasmapheresis is used to treat a few autoimmune disorders. Blood is withdrawn and filtered to remove the abnormal antibodies. Then the filtered blood is returned to the person.
Some autoimmune disorders resolve as inexplicably as they began. However, most autoimmune disorders are chronic. Drugs are often required throughout life to control symptoms. The prognosis varies depending on the disorder.
Last full review/revision July 2007 by Philip L. Cohen, MD
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Introduction: Transplantation: Merck Manual Home Edition
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In This Topic
Introduction
Donors
Pretransplantation Screening
Suppression of the Immune System
Section
Immune Disorders
Subject
Transplantation
Topics
Introduction · Heart Transplantation · Kidney Transplantation · Liver Transplantation · Lung and Heart-Lung Transplantation · Pancreas Transplantation · Stem Cell Transplantation · Transplantation of Other Organs
Source: The Merck Manual Home Edition
The immune system defends the body against what it perceives to be foreign or dangerous substances (see Biology of the Immune System: Recognition ). Such substances include microorganisms, parasites (such as worms), cancer cells, and even transplanted organs and tissues. Substances that can stimulate an immune response are called antigens. Antigens are molecules that may be contained within cells or on the surface of cells (such as bacteria, viruses, or cancer cells). Some antigens, such as pollen or food molecules, exist on their own.
Even cells in a person's own tissues can have antigens. But, normally, the immune system reacts only to antigens from foreign or dangerous substances, not to antigens from a person's own tissues. However, the immune system sometimes malfunctions, interpreting the body's own tissues as foreign and producing antibodies (called autoantibodies) or immune cells that target and attack particular cells or tissues of the body. This response is called an autoimmune reaction. It results in inflammation and tissue damage. Such effects may constitute an autoimmune disorder, but some people produce such small amounts of autoantibodies that an autoimmune disorder does not occur.
Some of the more common autoimmune disorders include rheumatoid arthritis, systemic lupus erythematosus (lupus), and vasculitis, among others. Additional diseases that are believed to be due to autoimmunity include glomerulonephritis, Addison's disease, mixed connective tissue disease, polymyositis, Sjögren's syndrome, progressive systemic sclerosis, and some cases of infertility.
Some Autoimmune Disorders
Disorder
Main Tissues Affected
Consequences
Autoimmune hemolytic anemia
Red blood cells
Anemia (decreased number of red blood cells) develops, causing fatigue, weakness, and light-headedness.
The spleen may enlarge.
The anemia can be severe and even fatal.
Bullous pemphigoid Skin Large blisters, surrounded by red, swollen areas, form on the skin. Itching is common.
With treatment, the prognosis is good.
Goodpasture's syndrome
Lungs and kidneys
Symptoms, such as shortness of breath, coughing up blood, fatigue, swelling, and itching, may develop.
The prognosis is good if treatment begins before severe lung or kidney damage occurs.
Graves' disease
Thyroid gland
The thyroid gland is stimulated and enlarged, resulting in high levels of thyroid hormones (hyperthyroidism).
Symptoms may include a rapid heart rate, intolerance of heat, tremor, weight loss, and nervousness.
With treatment, the prognosis is good.
Hashimoto's thyroiditis
Thyroid gland
The thyroid gland is inflamed and damaged, resulting in low levels of thyroid hormones (hypothyroidism).
Symptoms may include weight gain, coarse skin, intolerance to cold, and drowsiness.
Lifelong treatment with thyroid hormone is necessary and usually relieves the symptoms completely.
Multiple sclerosis
Brain and spinal cord
The covering of affected nerve cells is damaged. As a result, cell cannot conduct nerve signals normally.
Symptoms may include weakness, abnormal sensations, vertigo, problems with vision, muscle spasms, and incontinence. Symptoms vary over time and may come and go.
The prognosis varies.
Myasthenia gravis
The connection between nerves and muscles (neuromuscular junction)
Muscles, particularly those of the eyes, weaken and tire easily, but the weakness varies in intensity. The pattern of progression varies widely.
Drugs can usually control the symptoms.
Pemphigus
Skin
Large blisters form on the skin.
The disorder can be life threatening.
Pernicious anemia
Certain cells in the stomach's lining
Damage to cells in the stomach's lining makes absorbing vitamin B 12 difficult. (Vitamin B 12 is necessary for the production of mature blood cells and the maintenance of nerve cells.) Anemia results, often causing fatigue, weakness, and light-headedness. Nerves can be damaged, resulting in weakness and loss of sensation.
Without treatment, the spinal cord may be damaged, eventually contributing to loss of sensation, weakness, and incontinence.
The risk of stomach cancer is increased. Otherwise, with treatment, the prognosis is good.
Rheumatoid arthritis
Joints or other tissues, such as lung, nerve, skin, and heart tissue
Many symptoms are possible. They include fever, fatigue, joint pain, joint stiffness, deformed joints, shortness of breath, loss of sensation, weakness, rashes, chest pain, and swellings under the skin.
The prognosis varies.
Systemic lupus erythematosus (lupus)
Joints, kidneys, skin, lungs, heart, brain, and blood cells
The joints, although inflamed, do not become deformed.
Symptoms of anemia, such as fatigue, weakness, and light-headedness, and those of kidney, lung, or heart disorders, such as fatigue, shortness of breath, itching, and chest pain, may occur.
A rash may develop.
The prognosis varies widely, but most people can lead an active life despite occasional flare-ups of the disorder.
Type 1 diabetes mellitus Beta cells of the pancreas (which produce insulin)
Symptoms may include excessive thirst, urination, and appetite, as well as various long-term complications.
Lifelong treatment with insulin Some Trade Names HUMULIN NOVOLIN is needed, even if the destruction of pancreatic cells stops, because not enough pancreatic cells remain to produce enough insulin.
The prognosis varies greatly and tends to be worse when the disease is severe and lasts a long time.
Vasculitis
Blood vessels
Vasculitis can affect blood vessels in one part of the body (such as the nerves, head, skin, kidneys, lungs, or intestine) or several parts. There are several types. Symptoms (such as rashes, abdominal pain, weight loss, difficulty breathing, cough, chest pain, headache, loss of vision, and symptoms of nerve damage or kidney failure) depend on which part of the body is affected.
The prognosis depends on the cause and how much tissue is damaged. Usually, the prognosis is much better with treatment.
Causes
Autoimmune reactions can be triggered in several ways:
A substance in the body that is normally confined to a specific area (and thus is hidden from the immune system) is released into the bloodstream. For example, a blow to the eye can cause the fluid in the eyeball to be released into the bloodstream. The fluid stimulates the immune system to recognize the eye as foreign and attack it. A normal body substance is altered, for example, by a virus, a drug, sunlight, or radiation. The altered substance may appear foreign to the immune system. For example, a virus can infect and thus alter cells in the body. The virus-infected cells stimulate the immune system to attack. A foreign substance that resembles a natural body substance may enter the body. The immune system may inadvertently target the similar body substance as well as the foreign substance. For example, the bacteria that cause strep throat have some antigens that are similar to those in human heart cells. Rarely, the immune system may attack a person's heart after strep throat (this reaction is part of rheumatic fever). The cells that control antibody production—for example, B lymphocytes (a type of white blood cell)—may malfunction and produce abnormal antibodies that attack some of the body's cells. Heredity may be involved in some autoimmune disorders. Susceptibility to the disorder, rather than the disorder itself, may be inherited. In susceptible people, a trigger, such as a viral infection or tissue damage, may cause the disorder to develop. Hormonal factors may also be involved, because many autoimmune disorders are more common among women.
Symptoms and Diagnosis
Autoimmune disorders may cause a fever. However, symptoms vary depending on the disorder and the part of the body affected. Some autoimmune disorders affect certain types of tissue throughout the body—for example, blood vessels, cartilage, or skin. Other autoimmune disorders affect a particular organ. Virtually any organ, including the kidneys, lungs, heart, and brain, can be affected. The resulting inflammation and tissue damage can cause pain, deformed joints, weakness, jaundice, itching, difficulty breathing, accumulation of fluid (edema), delirium, and even death.
Blood tests that indicate the presence of inflammation may suggest an autoimmune disorder. For example, the erythrocyte sedimentation rate (ESR) is often increased, because proteins that are produced in response to inflammation interfere with the ability of red blood cells (erythrocytes) to remain suspended in blood. Frequently, the number of red blood cells is decreased (anemia) because inflammation decreases their production. However, inflammation has many causes, many of which are not autoimmune. Thus, doctors often obtain blood tests to detect different antibodies that can occur in people who have particular autoimmune disorders. Examples of these antibodies are antinuclear antibodies, which are typically present in systemic lupus erythematosus, and rheumatoid factor or anti-cyclic citrullinated peptide (anti-CCP) antibodies, which are typically present in rheumatoid arthritis. But even these antibodies may sometimes occur in people who do not have an autoimmune disorder, so doctors usually use a combination of test results and the person's signs and symptoms to decide whether an autoimmune disorder is present.
Did You Know...
Antigens, substances that can trigger an immune response, can even exist on a person's own cells. Autoimmune disorders or susceptibility to autoimmune disorders may be inherited. Virtually any organ can be affected by an autoimmune disorder.
Treatment
Treatment involves control of the autoimmune reaction by suppressing the immune system. However, many of the drugs used to control the autoimmune reaction also interfere with the body's ability to fight disease, especially infections.
Drugs that suppress the immune system (immunosuppressants), such as azathioprine Some Trade Names IMURAN , chlorambucil Some Trade Names LEUKERAN , cyclophosphamide Some Trade Names CYTOXAN , cyclosporine Some Trade Names SANDIMMUNE NEORAL , mycophenolate, and methotrexate Some Trade Names RHEUMATREX , are often given, usually by mouth and often for a long time (see Transplantation: Drugs Used to Prevent Transplant Rejection ). However, these drugs suppress not only the autoimmune reaction but also the body's ability to defend itself against foreign substances, including microorganisms that cause infection and cancer cells. Consequently, the risk of certain infections and cancers increases.
Often, corticosteroids, such as prednisone Some Trade Names DELTASONE METICORTEN , are given, usually by mouth. These drugs relieve inflammation as well as suppress the immune system. Corticosteroids given for a long time have many side effects (see Joint Disorders: Corticosteroids: Uses and Side Effects ). When possible, corticosteroids are used for a short time—when the disorder begins or when symptoms worsen. However, corticosteroids must sometimes be used indefinitely.
Certain autoimmune disorders (for example, multiple sclerosis and thyroid disorders) are also treated with drugs other than immunosuppressants and corticosteroids. Treatment to relieve symptoms may also be needed.
Etanercept Some Trade Names ENBREL , infliximab Some Trade Names REMICADE , and adalimumab block the action of tumor necrosis factor (TNF), a substance that can cause inflammation in the body. These drugs are very effective in treating rheumatoid arthritis, but they may be harmful if used to treat certain other autoimmune disorders, such as multiple sclerosis. These drugs can also increase the risk of infection and certain cancers.
Certain new drugs specifically target white blood cells. White blood cells help defend the body against infection but also participate in autoimmune reactions. Abatacept blocks the activation of one kind of white blood cell (T cell) and is used in rheumatoid arthritis. Rituximab Some Trade Names RITUXAN , first used against certain white blood cell cancers, works by depleting certain white blood cells (B lymphocytes) from the body. It is effective in rheumatoid arthritis and is under evaluation in a variety of autoimmune disorders. Other agents directed against white blood cells are being developed.
Plasmapheresis is used to treat a few autoimmune disorders. Blood is withdrawn and filtered to remove the abnormal antibodies. Then the filtered blood is returned to the person.
Some autoimmune disorders resolve as inexplicably as they began. However, most autoimmune disorders are chronic. Drugs are often required throughout life to control symptoms. The prognosis varies depending on the disorder.
Last full review/revision July 2007 by Philip L. Cohen, MD
Audio Figures Photographs Pronunciations Sidebar Tables Videos
Introduction: Transplantation: Merck Manual Home Edition
Search
Recent Searches
Index Sections
A B C D E F G H I
J K L M N O P Q R
S T U V W X Y Z
Accidents and Injuries Blood Disorders Bone, Joint, and Muscle Disorders Brain, Spinal Cord, and Nerve Disorders Cancer Children's Health Issues Digestive Disorders Disorders of Nutrition and Metabolism Drugs Ear, Nose, and Throat Disorders Eye Disorders Fundamentals Heart and Blood Vessel Disorders Hormonal Disorders Immune Disorders Infections Kidney and Urinary Tract Disorders Liver and Gallbladder Disorders Lung and Airway Disorders Men's Health Issues Mental Health Disorders Mouth and Dental Disorders Skin Disorders Special Subjects Women's Health Issues view all sections
In This Topic
Introduction
Donors
Pretransplantation Screening
Suppression of the Immune System
Section
Immune Disorders
Subject
Transplantation
Topics
Introduction · Heart Transplantation · Kidney Transplantation · Liver Transplantation · Lung and Heart-Lung Transplantation · Pancreas Transplantation · Stem Cell Transplantation · Transplantation of Other Organs
Source: The Merck Manual Home Edition
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