BIOLOGY

PROJECT
Autoimmune diseases

BY,
P.ALLWIN
SOLOMON
XII-F
 INDEX
• Introduction
• Causes and symptoms
• Classification
• Systemic diseases
• Organ-specific disease
• Common autoimmune
diseases
• Diagnosis and
treatment
• Bibliography
Introduction:
Autoimmune diseases are conditions in which your immune system mistakenly

damages healthy cells in our body. Types includes rheumatoid arthritis, Crohn,s disease, and some thyroid
conditions.

Your immune system usually protects you from disease 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.
There are more than 80 types of autoimmune disease. They can affect almost any part of your body
But if you have an autoimmune disease, your immune system mistakes part of your body, such as your joints
or skin, as foreign. It releases protein called autoantibodies that attack healthy cells.
Some autoimmune disease target only one organ. Type 1 diabetes damages your pancreas. Autoimmune
hepatitis affects the liver. Alopecia areata is an autoimmune disease of the skin that causes hair loss. Other
conditions, such as systemic lupus erythematosus, or lupus, can affect your whole body. And in rheumatoid
arthritis, the immune system can attack many parts of the body, including the joints, lungs and eyes.
With unusual auto immune diseases, patient may suffer years before getting a proper diagnosis.
Most have the diseases have no cure. Some require lifelong treatment to ease symptoms.
Collectively, these diseases affect more than 24 million people in the United States. An additional eight

million people have auto-antibodies, blood molecules that indicate a person,s chance of developing

autoimmune disease. Autoimmune diseases are affecting more people for unknown. Likewise, the causes of
these diseases remain a mystery.

Studies indicate these diseases likely result from interactions between genetic and environmental factors.
Genders, race, and ethnicity characteristics are linked to a likelihood of developing an autoimmune disease.
Autoimmune disease are more common when people are in contact with certain environmental exposures.
 Causes and symptoms:
No one is sure why autoimmune diseases happen. But you can,t catch them from

other people. Even doctors don’t know what causes the immune system to misfire. Autoimmune diseases do
tend to run in families, which means that certain genes may make some people more likely to develop a
problem. Viruses, certain chemicals, and other things in the environment may trigger an autoimmune disease
if you already have the genes for it.

Some factors that may increase your risk of developing an autoimmune disease can include:

• Your sex: People assigned female at birth between the age of 15 and 44 are more likely to get an
autoimmune disease than people assigned male at birth.
• Your family history: You may be more likely to develop autoimmune diseases due to inherited
genes, though environmental factors may also contribute.
• Environmental factors: Exposure to sunlight, mercury, chemicals like solvents or those used in
agriculture, cigarette smoke, or certain bacterial and viral infections, including COVID-19, may
increase your risk of autoimmune disease.
• Ethnicity: Some autoimmune diseases are more common in people in certain groups. For example,
White people from Europe and the United States may be more likely to develop autoimmune muscle
disease, while lupus tends to occur more in people who are African, American, Hispanic, or Latino.
• Nutrition: Your diet and nutrients may impact the risk and severity of autoimmune disease.
• Other health conditions: Certain health conditions, including obesity and other autoimmune
diseases, may make you more likely to develop an autoimmune disease.

Causes of developing some specific autoimmune disease as follows:

• Exposure to sunlight may be connected to the development of juvenile dermatomyotisis, an

autoimmune disease associated with muscle weakness and skin rashes.
• Exposure to some pesticides may play a role in the development of rheumatoid arthritis in male farm
workers.
• Researchers identified the primary genetic risk factors associated with autoimmune muscle disease in
Caucasian population in Europe and the United States.
• Methymercury, even at exposure levels generally considered safe, may be linked to development of
autoimmune antibodies in women of reproductive age. These antibodies could lead in turn to
autoimmune diseases, such as inflammatory bowel disease, lupus, rheumatoid arthritis, and multiple
scleroisis.
What are the common symptoms of an autoimmune diseases?

Different autoimmune diseases may have similar early symptoms.

These can include:

• Fatigue
• Dizziness or lightheadedness
• Low graded fever
• Muscle aches
• Swelling
• Trouble concentrating
• Numbness and tingling in your hands and feet
• Hair loss
• Skin rash

With some autoimmune diseases, including psoriasis or rheumatoid arthritis (RA), symptoms may come and
go. A period of 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 (IDB) may cause bloating and diarrhoea.

Symptoms categorized by type of disease include:

 Diseases of the joints and muscles:

• Muscle aches and pains

• Joint pain, stiffness and swelling
• Muscle weakness
• Inflammation

Diseases of digestive tract:

• Bloating
• Constipation
• Abdominal pain
• Acid reflux
• Nausea
• Food sensitivities
• Blood and mucus in stool

Diseases of the skin:

• Rashes
• Itching
• Dry eyes
• Dry mouth
• Inflammation
• Hair loss
• Dry skin

Diseases of the skin:

• Dizziness
• Headaches
• Anxiety and depression
• Confusion and difficulty thinking
• Blurry vision
• Insomnia
• Memory issues
• Migraines
• Lightheadedness
• Numbness and tingling
Other diseases:

• Fatigue
• Pain
• Fever
• Chest pain
• Swollen glands
• Weight gain or loss
• Rapid or irregular heartbeat
• Shortness of breath
• Temperature sensitivity
Classification:

Autoimmune diseases can be classified according to several criteria. One of them is the location of the
autoimmune attack. Based on this criterion, autoimmune diseases are distinguished into systemic and
organic-specific. Although artificial, this classification scheme is useful for orienting patients and primary
care physicians to the appropriate specialist.

Autoimmune diseases:

• Systemic diseases
• Organ-specific diseases

Autoimmune diseases are divided into two classes: organ-specific and systemic. An organ-specific disease is
one in which an immune response is directed against antigens in a single organ; examples include Addison
disease, in which autoantibodies attack the adrenal cortex, and myasthenia gravis, in which they attack
neuromuscular cells. In systemic diseases the immune system attacks self antigens in several
organs. Systemic lupus erythematosus, for example, is characterized by inflammation of the skin, joints,
and kidneys, among other organs.
Organ-specific autoimmune diseases occur as a result of genetic predisposition and environmental
influences. The genetic predisposition accounts for the fact that different autoimmune conditions may be
associated in patients or their family members, as well as for the well-known feature that single autoimmune
diseases often run in families. The inheritance of susceptibility is usually polygenic. Organ-specific
autoimmune diseases are commonly associated with specific human leukocyte antigen class II antigens. The
majority of organ-specific autoimmune diseases are chronic and apparently “idiopathic.” Organ- and
disease-specific antibodies are found in the affected patients. These antibodies are also detected in family
members even years before the development of disease, and thus identify asymptomatic relatives at risk.
Here we deal with involvement of organ-specific autoimmunity in the following cardiovascular diseases: the
post-pericardiotomy and post-myocardial infarction (Dressler) syndromes and idiopathic recurrent
acute pericarditis, rheumatic carditis, idiopathic forms of inflammatory cardiomyopathy and brady-
or tachyarrhythmias, systemic arterial hypertension.
While each type of autoimmune disease has specific symptoms, many autoimmune diseases generally are
associated with fatigue, skin rash, abdominal pain, digestive issues, and joint pain. Treatment typically
involves medications that reduce inflammation and pain. Examples include corticosteroids, anti-
inflammatory drugs, and immunosuppressants.

Systemic autoimmune diseases, also known as connective tissue diseases or collagenopathies, are a group of
entities that share certain characteristic features. As their name clearly expresses, these disorders are
systemic and can affect several organs. Well-defined manifestations are seen in musculoskeletal structures
(arthritis and myositis), skin (characteristic rashes, as in dermatomyositis [DM] or lupus), kidney (mainly
glomerulonephritis), gastrointestinal system (dysphagia or even chronic intestinal pseudo-obstruction), and
heart (myocarditis or valvular heart disease in lupus or antiphospholipid syndrome). In particular, the lung
seems to be commonly affected. As these diseases are autoimmune in nature, several well-described
autoantibodies are useful for diagnostic purposes and as biomarkers of specific features, as is the case of
lung involvement.

In this chapter, the inflammatory myopathies (IM), which include DM, polymyositis, and antisynthetase
syndrome, as well as mixed connective tissue diseases (MCTDs) are delineated and described with specific
emphasis on lung involvement.
Systemic diseases:

Systemic autoimmune diseases target ubiquitous antigens that are widespread throughout the body. A
continuum of autoimmune diseases exists between systemic and tissue-specific, as some antigens may be
shared with a few other tissues, as opposed to being expressed ubiquitously or in only one tissue. The
pathogenesis of systemic autoimmunity is still being deciphered; however, there is evidence that defects in
the innate immune system, including a failure to clear apoptotic debris and hyperresponsiveness to DAMPs,
may be inciting factors.
Systemic lupus erythematosus (SLE) is a systemic autoimmune disease in which nuclear or cytoplasmic
antigens are targeted. While the exact etiology and causation are unknown, SLE is characterized by the
presence of antinuclear antibodies (ANAs) that target DNA, histones, RNA-binding proteins, or nucleolar
antigens. The targeted antigens are identified by performing assays for ANAs, which reveal distinct staining
patterns within the nucleus depending upon which antigen is targeted (e.g., diffuse staining for antihistone or
chromatin antibodies, rim staining for DNA antibodies, speckled pattern for non-DNA nuclear antigen-
targeting antibodies, and nucleolar staining for antinucleolar RNA antibodies). The antibodies that are most
indicative of SLE are anti-DNA antibodies and anti-Smith (nuclear protein) antibodies, though patients may
also have autoantibodies that target cell surface antigens or phospholipids. Rheumatoid factor antibodies,
which are antibodies that target the Fc portion of other antibodies or isotypes, also develop in RA patients
and can form aggregates with other autoantibodies, thereby forming large immune complexes. However,
these autoantibodies are also present in other autoimmune diseases and are therefore not disease-specific.
SLE patients present with a wide variety of symptoms and ages of onset, and many develop skin, joint,
kidney, and serosal damage. This occurs as a result of precipitation/deposition of immune complexes in
tissue components such as small vessels, resulting in the activation of the innate immune system and
complement with resultant tissue damage. Some patients exhibit CNS
involvement, pericarditis, splenomegaly, or fibrosis of the lung.
RA primarily affects the joints, but patients may also exhibit skin, blood vessel, lung, heart, or muscle
inflammation as well because of the pathogenesis, which we will describe in the succeeding text. Therefore,
RA falls more toward the systemic end of the spectrum of autoimmune diseases. Usually, the smaller joints
such as those in the hands and feet are affected first. Joint erosion occurs as a result of osteoclast
activation secondary to proinflammatory cytokine production. Immune infiltrates in the joint that mediate
this process are B cells and CD4 + helper T cells, which aggregate and form follicles. Neutrophils also
accumulate in the synovial fluid and may contribute to the pathology through the citrullination of proteins,
which makes them stickier and contributes to immune complex deposition. Many RA patients have
circulating rheumatoid factor antibodies, which can mediate tissue damage in other organ systems.
Sjogren syndrome involves autoimmune destruction of the lacrimal and salivary glands, causing dry eye
and dry mouth in patients. Therefore, this falls between the systemic and tissue-specific autoimmune
diseases on the spectrum. Like RA, most infiltrates in the glands are B cells and CD4 + helper T cells. It is
thought that the tissue destruction is mediated by the CD4 + T cells, which show evidence of clonal
expansion, though the etiology is still unknown. Many patients have rheumatoid factor antibodies and ANAs
but may or may not have coexisting RA and SLE, respectively. The majority of patients do, however,
present with another coexisting or ‘overlapping’ autoimmune disease such as RA, SLE, thyroiditis,
or scleroderma.
Scleroderma is characterized by fibrosis of the skin. Systemic sclerosis involves other organs in addition to
the skin, including the kidneys, GI tract, lungs, heart, and muscles. Scleroderma is subcategorized into
diffuse or limited subtypes depending upon the extent of skin involvement and involvement of the viscera.
Interestingly, TH2-skewed CD4 + T cells have been found in the skin of patients with scleroderma, and
patients often have elevated IL-13 levels and other TH2-type cytokines, though the significance of these cells
in the disease pathogenesis is still unknown. In addition to proinflammatory cytokines produced
by inflammatory infiltrates, most of which are CD4 + T cells, growth factors like TGF-β are produced that
can stimulate fibroblasts and induce collagen production, thus causing fibrosis. Patients may also have
ANAs, and the presence of anti-DNA topoisomerase I antibodies is highly specific for scleroderma.
Systemic diseases include:
• Systemic lupus erthyematoosus
• Rheumatoid arthritis
• Sclerdoma
• Sepsis
• Multiple sclerosis
 • Dermatomyositis
• Syphilis
• Lyme disease
• Diphtheria

Organ-specific diseases:

Organ-specific autoimmune diseases depend on the production of an autoimmune response to antigens that
are limited to a particular organ. Therefore, the clinical presentation of the disease depends on where it
occurs. As a result, the diagnosis and treatment of these diseases has been dispersed among different medical
specialties and the common features have often been neglected. More recent research has highlighted these
common mechanisms. They include the chance congruence of a number of genetic traits, which, in the
aggregate, increase the risk of developing an autoimmune disease. The most prominent traits are located in
the major histocompatibility complex, but many other genes are involved in regulating the immune
response. In addition to genetics, hormonal balance plays an important part in susceptibility to autoimmune
disease since virtually all organ-specific autoimmune diseases show sex bias. Finally, in humans,
environmental stimulus appears to be necessary to start the unregulated autoimmune process. Detailed
studies of the steps involved in the generation of pathogenic autoimmunity have already led to important
improvements in treatment of these diseases.

Organ-specific autoimmune diseases are a loosely defined collection of disorders characterized by broadly
shared aspects of presumed pathogenesis (i.e., the interplay of genetic predispositions, environmental
insults, and destructive immune responses) and a relative restriction of pathology to defined cell types,
tissues, and/or organs. Our understanding of these complex conditions has been decisively advanced through
the study of suitable animal models and herein we outline their general utility and promise as well as their
limitations and pitfalls; we also provide a survey of individual research strategies that seek to model the 17
most prevalent organ-specific autoimmune disorders and that collectively account for ~75% of all human
autoimmune disease cases. Building largely on the established concepts and hypotheses but facilitated and
accelerated by remarkable technological advances, many new, refined, and improved animal models have
been introduced in the early 21st century. Altogether, they have considerably enriched our knowledge about
fundamental immunological processes in health and autoimmune disease yet the degree to which they have
precipitated therapeutic progress is less clear. The reasons for this shortcoming are undoubtedly manifold,
but we contend that it is above all a relative “lack of diversity” that has compromised the reproducibility,
robustness, and relevance of preclinical animal studies. A truly effective integration of animal models into
organ-specific autoimmune disease research will not only have to tackle these issues but also needs to be
principally informed by a more detailed pathophysiological description of the respective human diseases.
Organ-specific diseases include:

• Addison’s disease (adrenal)

• Autoimmune hepatitis (liver)
• Coeliac disease (gastrointestinal tract)
• Crohn’s disease (gastrointestinal tract)
• Diabetes Mellitis Type 1a (pancreas)
• Grave’s disease (thyroid)
• Guillain-Barre syndrome (nervous system)
• Hashimoto’s thyroiditis (thyroid)
• Multiple sclerosis (nervous system)
• Myasthenia gravis (nerves, muscles)
• Pernicious anaemia (stomach)
• Primary biliary cholangitis, formerly known as primary biliary cirrhosis (liver)
• Sclerosing cholangitis (liver)
 • Ulcerative colitis (gastrointestinal tract)

Common autoimmune
diseases:
Lupus:

Systemic lupus erythematosus (SLE), commonly referred to simply as lupus, is a chronic autoimmune
disease that can cause swelling (inflammation) and pain throughout your body. When you have an
autoimmune disease, your body’s immune system fights itself. The immune system is supposed to fight
possible threats to the body — infections, for example — but, in this case, it goes after healthy tissue.

If you have lupus, you might experience joint pain, skin sensitivities and rashes, and issues with internal
organs (brain, lungs, kidneys and heart). Many of your symptoms might come and go in waves — often
called flare-ups. At times, symptoms of lupus might be mild or not noticeable (meaning they’re in
remission). Other times, you could experience severe symptoms of the condition that heavily impact your
daily life.

Rheumatoid arthritis (RA):

Rheumatoid arthritis is a chronic inflammatory disorder that can affect more than just your joints. In some
people, the condition can damage a wide variety of body systems, including the skin, eyes, lungs, heart and
blood vessels.

An autoimmune disorder, rheumatoid arthritis occurs when your immune system mistakenly attacks your
own body's tissues.

Unlike the wear-and-tear damage of osteoarthritis, rheumatoid arthritis affects the lining of your joints,
causing a painful swelling that can eventually result in bone erosion and joint deformity.

The inflammation associated with rheumatoid arthritis is what can damage other parts of the body as well.
While new types of medications have improved treatment options dramatically, severe rheumatoid arthritis
can still cause physical disabilities.
Crohn's disease:
Crohn's disease is a type of inflammatory bowel disease (IBD). It causes swelling of the tissues
(inflammation) in your digestive tract, which can lead to abdominal pain, severe diarrhea, fatigue, weight
loss and malnutrition.
Inflammation caused by Crohn's disease can involve different areas of the digestive tract in different people,
most commonly the small intestine. This inflammation often spreads into the deeper layers of the bowel.
Crohn's disease can be both painful and debilitating, and sometimes may lead to life-threatening
complications.
There's no known cure for Crohn's disease, but therapies can greatly reduce its signs and symptoms and even
bring about long-term remission and healing of inflammation. With treatment, many people with Crohn's
disease are able to function well.
Multiple sclerosis:
Multiple sclerosis (MS) is a potentially disabling disease of the brain and spinal cord (central nervous
system).

In MS, the immune system attacks the protective sheath (myelin) that covers nerve fibers and causes
communication problems between your brain and the rest of your body. Eventually, the disease can cause
permanent damage or deterioration of the nerve fibers.

Signs and symptoms of MS vary widely between patients and depend on the location and severity of nerve
fiber damage in the central nervous system. Some people with severe MS may lose the ability to walk
independently or ambulate at all. Other individuals may experience long periods of remission without any
new symptoms depending on the type of MS they have.

There's no cure for multiple sclerosis. However, there are treatments to help speed the recovery from attacks,
modify the course of the disease and manage symptoms.

Hashimoto's thyroiditis:

Hashimoto's disease is an autoimmune disorder affecting the thyroid gland. The thyroid is a butterfly-shaped
gland located at the base of the neck just below the Adam's apple. The thyroid produces hormones that help
regulate many functions in the body.

An autoimmune disorder is an illness caused by the immune system attacking healthy tissues. In
Hashimoto's disease, immune-system cells lead to the death of the thyroid's hormone-producing cells. The
disease usually results in a decline in hormone production (hypothyroidism).
Although anyone can develop Hashimoto's disease, it's most common among middle-aged women. The
primary treatment is thyroid hormone replacement.

Hashimoto's disease is also known as Hashimoto's thyroiditis, chronic lymphocytic thyroiditis and chronic
autoimmune thyroiditis.

Graves' disease:

Graves' disease is an immune system disorder that results in the overproduction of thyroid hormones
(hyperthyroidism). Although a number of disorders may result in hyperthyroidism, Graves' disease is a
common cause.

Thyroid hormones affect many body systems, so signs and symptoms of Graves' disease can be wide
ranging. Although Graves' disease may affect anyone, it's more common among women and in people
younger than age 40.

The primary treatment goals are to reduce the amount of thyroid hormones that the body produces and
lessen the severity of symptoms.

Psoriasis:

Psoriasis is a skin disease that causes a rash with itchy, scaly patches, most commonly on the knees, elbows,
trunk and scalp.

Psoriasis is a common, long-term (chronic) disease with no cure. It can be painful, interfere with sleep and
make it hard to concentrate. The condition tends to go through cycles, flaring for a few weeks or months,
then subsiding for a while. Common triggers in people with a genetic predisposition to psoriasis include
infections, cuts or burns, and certain medications.

Treatments are available to help you manage symptoms. And you can try lifestyle habits and coping
strategies to help you live better with psoriasis.

Type 1 diabetes:

Type 1 diabetes, once known as juvenile diabetes or insulin-dependent diabetes, is a chronic condition. In
this condition, the pancreas makes little or no insulin. Insulin is a hormone the body uses to allow sugar
(glucose) to enter cells to produce energy.
Different factors, such as genetics and some viruses, may cause type 1 diabetes. Although type 1 diabetes
usually appears during childhood or adolescence, it can develop in adults.

Even after a lot of research, type 1 diabetes has no cure. Treatment is directed toward managing the amount
of sugar in the blood using insulin, diet and lifestyle to prevent complications.

Diagnosis and treatment:

Diagnosis:

Diagnosing autoimmune diseases can be a challenging, lengthy process. For some, it may take years to
receive the right diagnosis. This can be due to a variety of reasons:

• Not all symptoms always appear at the same time.

• Symptoms can be intermittent or gradually develop over time.

• Certain symptoms can overlap with the symptoms of other issues, particularly other autoimmune
disorders.

For example, lupus can affect the joints similarly to rheumatoid arthritis, but the symptoms tend to be less
severe. IBD causes similar symptoms to celiac disease, but IBD is not typically a result of consuming gluten.

The diagnostic process also differs depending on the specific disease. However, it usually involves blood
tests.

In some cases, blood tests can indicate various conditions. For instance, diagnosing Hashimoto’s thyroiditis
and Graves’ disease requires a simple test to measure levels of thyroid hormone.

A test known as a complete blood count allows a doctor to check the levels of white and red blood cells in
the body. When the immune system is fighting off something, the levels are different from the usual
baseline.

A doctor may be able to diagnose an autoimmune disease by analyzing antibodies that the immune system
produces. However, sometimes autoantibody blood tests are positive for many years before symptoms
develop.
Other tests can indicate unusual inflammation — an issue that is fairly common among all autoimmune
diseases.

To help the diagnostic process, experts suggest trusted resources:

• writing out a family health history

• recording symptoms over time

• seeing a specialist

Because autoimmune diseases can involve a single organ or be systemic in nature and involve multiple
organs, it is important for a person to meet with a specialist.

If it involves a single organ such as the thyroid or pancreas, an endocrinologist — a specialist in that organ
— is the best type of doctor for a person to see. For a systemic disease involving the connective tissue, such
as the joints and muscles, a rheumatologist may be the best doctor for a person to see.

In many cases, it may also help to seek out a second, third, or fourth opinion, as well.

Treatment:

Autoimmune diseases are chronic conditions that cannot be cured and treatment is aimed at controlling the
body’s autoimmune processes, alleviating symptoms and maintaining the patient’s ability to fight disease.

Depending on the patient’s type of disease and symptoms, a doctor may suggest taking the following
measures:

• A healthy diet and exercise

• Vitamin supplementation
• Hormone replacement therapy
• Blood transfusion
• Pain relief medication

Many patients take medication to reduce the body’s immune response and these agents are referred to as
immunosuppressive drugs. Examples include corticosteroids such as prednisone and non-steroid agents such
as azathioprine, sirolimus or tacrolimus.
Bibliography:
• healthline.com

• medlineplus.gov

• niehs.nih.gov

• pathology.jhu.edu

• mayoclinic.org

• my.clevelandclinic.org

• sciencedirect.com

• mediclenewstoday.com

• britannica.com

• hopkinsmedicine.org