Disease types and remedies

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AUTOIMMUNE DISEASES

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Autoimmune diseases strike one in 15 Americans including about 18 million women and 5 million men. Autoimmune diseases are among the top 10 causes of death in female children and women in all age groups up to 64 years of age. The National Institutes of Health estimate autoimmune diseases cost an estimated $100 billion a year in medical care.

There are approximately 80 different types of autoimmune diseases. However, all autoimmune diseases have one thing in common: the immune system – which is designed to protect the body against infection – makes a mistake and attacks its own healthy tissue.

THE DIVERSE ARRAY OF AUTOIMMUNE DISEASES

Autoimmune diseases include illnesses throughout the body such as:

No tissue or organ is exempt from autoimmune diseases. They affect many different organs and vary greatly among the individuals who have them, in terms of their severity and the responsiveness to therapy. This level of complexity is reflected in the underlying causes of autoimmune diseases, including multiple genetic and environmental factors. And because many causes of autoimmune diseases are shared, people living with an autoimmune disease are more likely to suffer from more than one of these destructive diseases.

WHAT CAUSES AUTOIMMUNE DISEASES?

Americans living with autoimmune diseases

What causes the immune system to no longer tell the difference between healthy body tissues and an infection is unknown. One theory is that bacteria, viruses, toxins or drugs may trigger some of these changes, especially in people who have genes that make them more likely to develop autoimmune disorders.

The immune system is complex and has evolved redundant pathways over millennia in response to diverse challenges. Therefore, scientists think that immune dysfunction will need to be treated with combinations of approaches.

ARE GENES INVOLVED IN AUTOIMMUNE DISEASES?

Inherited genes play an important role in determining risk of autoimmune diseases. Some genes confer a large risk, other genes confer a small risk, and some genes even provide protection from autoimmunity.

In general, risk is increased among close relatives within a family who have autoimmune diseases, due to the likelihood that genes are shared. That risk ranges from a few percent increase all the way up to an increase of 10- to 20-fold. However, even with these large increases, the overall disease risk can be fairly small. For example, an increased 10-fold risk for an autoimmune disease that occurs in 1 in 1,000 people means that the risk becomes 1 in 100. So while family members have a high likelihood of inheriting disease-associated genes, and they are at higher than normal risk of also getting autoimmune diseases, in most cases the odds are still reasonably low.

INCREASING PREVALENCE

The incidence of many autoimmune diseases is increasing, including multiple sclerosis (MS), inflammatory bowel disease (IBD) and type 1 diabetes (T1D). There is much ongoing analysis to determine why this is occurring. The increase in autoimmune disease prevalence may be due to changes in several aspects of the environment that disturb the balance of the immune system. These changes make it more likely that someone susceptible to one of these diseases will actually develop it.

PACIFIC NORTHWEST CONNECTION

In the Pacific Northwest there is a greater prevalence of autoimmune diseases such as MS, IBD and T1D.

IBD affects approximately 1.4 million Americans (almost 1 in 200), evenly divided between Crohn’s disease and ulcerative colitis. IBD is more common in northern latitudes, like the Pacific Northwest, where an estimated 50,000 patients are thought to reside. Some likely factors that contribute to this geographic effect are vitamin D deficiency from lack of natural sunlight, genetic predisposition in the Northern European/Scandinavian heritage and unknown environmental triggers.

MS affects approximately 400,000 Americans (1 in 1,000) but is much more common in the Northwest where approximately 12,000 (2 in 1,000) people have MS. Some likely factors that contribute to this may be vitamin D deficiency, genetic predisposition and environmental triggers. Other factors are still unknown.

COMMON THREADS

What if medical research could discover the commonalities between these diseases and find therapies that work for more than one disease? That’s exactly what Benaroya Research Institute at Virginia Mason (BRI) is doing. The scientists aren’t focused on eliminating one or two autoimmune diseases – they’re taking on all 80.

genetic connections in autoimmune diseases

The illustration below shows the connection between genes and multiple autoimmune diseases. These genes are common in two, three or four diseases. As BRI looks for new therapies to affect these genes in one disease, they are also applied to others.

BRI scientists work together to study the genes, molecules, cells and function of the immune system to discover the common elements that – no matter what type of tissues is affected – will explain the disease course and help identify the best approach for therapy.

Bringing together researchers and clinicians studying multiple autoimmune diseases is a catalyst for discovery – learning how similar mistakes by the immune system can cause different diseases and using this information to test therapies that have been initially developed for one disease and applying them to a different disease.

RESEARCH ADVANCES 

While BRI is committed to eliminating autoimmune diseases, currently there is no cure for them. On the path to a discovery for a cure, BRI scientists are having success in finding better diagnostics, treatments and therapies for diseases.

Immunology research is driving toward individualized treatment for each person with autoimmune and immune-mediated diseases. Each person’s genetics, environment and immune system mechanisms are unique. People react to therapies differently and their responses may change over time. The optimal approach will be to individualize health care for each person and offer the right treatment at the right time. BRI is developing a way to provide an immune system profile for individual patients. The profile will detail the expression of thousands of genes over a person’s lifetime. The goal is to provide an early warning of things to come and an indication of what treatments might be needed.

Research at BRI to fight autoimmune diseases includes:

Clinical Trials 

Clinical research studies are conducted with volunteers who participate in experimental medical approaches not available outside the clinical trial setting and play a major role in pushing the boundaries of knowledge about their disease and new therapies. BRI conducts nearly 100 clinical trials each year with about 4,000 participants across many different diseases. BRI’s clinical trials are conducted through a Diabetes Research Program partnership with Seattle Children’s, TrialNetand the National Institutes of Health; trials with theImmune Tolerance Network; and the BRI Clinical Research Program with physicians at Virginia Mason Medical Center.

Translational Research 

Translational research is the link between laboratory research and clinical research, built upon an exchange of materials and information between these two disciplines. BRI scientists and colleagues collaborate together to study blood and serum samples along with medical and demographic data collected from people with autoimmune and immune-mediated diseases. They work to better understand the nature of disease initiation and progression to better target therapy. BRI maintains an extensive biorepository with samples dating back to 2000, including a number of disease types and a biorepository of healthy people for comparison purposes.

Laboratory Research 

BRI scientists in the laboratory investigate the molecular mechanisms of the immune response to better understand disease progression and uncover new approaches to treatment. By gaining a greater understanding of the mechanisms and progression of diseases, BRI researchers are also developing methods to better predict a person’s disease risk and provide earlier diagnoses so that patients can begin treatment earlier. The ultimate goal of early diagnosis and therapy is prevention—before autoimmune diseases become a clinical problem.

Types of allergies

Allergies and asthma are immune mediated diseases that occur when the body’s immune system overreacts to a foreign substance (an allergen), such as pollen, animal dander, foods or medications, that in most people is generally harmless. 

1 in 4 suffers from allergies & asthma

People react to the proteins in these allergens with an antibody made by specialized immune cells that release chemicals which cause sneezing, itching in the nose, eyes and ears, and in rare cases the life-threatening reaction anaphylaxis. Asthma is often triggered by these types of allergic reactions. Allergies can range from mild to severe. For some people they can compromise quality of life and even be life-threatening. 

More than 25 percent of Americans suffer from allergies and asthma, with allergies affecting more than 50 million and asthma affecting approximately 25 million.

Affects 1 in 13 children; 2 in every classroom

Allergen specific immunotherapy (allergy vaccine therapy) remains the primary treatment for certain types of allergies. In this therapy, patients are vaccinated with increasing doses of allergens with the goal of improving the body’s immune tolerance to the substance. However, these current therapies require months to years of treatment and in some cases may also cause life-threatening symptoms such as low blood pressure and anaphylactic shock.

RESEARCH ADVANCES 

BRI is a worldwide leader in investigating better ways to diagnose, treat and cure allergies and asthma. Research at BRI focused on allergies and asthma aims to find better ways to help patients with less side effects and risks:

Clinical Trials 

BRI and Virginia Mason evaluate new therapies for allergies and asthma through clinical research studies.

Translational Research 

Scientists work with allergy and asthma biomarkers to better understand the immune response that leads to allergic reaction, monitoring disease progression and focusing new allergy vaccine therapies on the portions of the allergen molecule that provoke immune response. BRI researchers have discovered the allergen specific T cells of the immune system that cause allergic disease. They have created a way to identify them and use them as biomarkers of disease. They are currently studying them in clinical research trials for peanut allergies.

Laboratory Research 

Benaroya Research Institute now leads an Asthma and Allergic Diseases Cooperative Research Center in Seattle to study the immune system response to allergens in the lungs. The center is a collaboration of researchers from BRI, UW Medicine and Seattle Children’s Research Institute working to gain insights into the lung epithelium—the interface between the inside of the lung and the outside environment—to inform the development of new treatments and therapies for allergies and asthma.

Researchers investigate the cellular mechanisms underlying allergies and asthma. Immunology Research Programscientists at BRI are studying the inflammatory and immune responses to lung infection and allergic reactions to better understand disease progression. They identified Thymic Stromal Lymphoprotien (TSLP) as a key factor that helps initiate the inflammatory cascade that leads to the onset and progression of asthma and allergies. BRI studies continue to investigate the mechanism of TSLP to understand how it promotes disease and have shown an elevated level of TSLP in people with these diseases.

CLINICAL RESEARCH TRIALS ARE AVAILABLE IN THE FOLLOWING AREAS

CELIAC DISEASE

Celiac disease occurs when the immune system attacks the small intestine after exposure to gluten (a protein found in wheat, rye and barley). This causes inflammation and damage to the small intestine, which can prevent the absorption of water and nutrients into the body. Celiac disease is also known as coeliac disease, celiac sprue, non-tropical sprue, and gluten sensitive enteropathy. Celiac disease is hereditary, meaning that it runs in families. About 1 in 10 people with a first-degree relative with celiac disease (parent, child and/or sibling) will develop celiac disease.

Celiac disease is estimated to affect 1 in 100 people in the United States and its incidence appears to be rising. In addition, 2.5 million Americans are undiagnosed and may be at risk for long-term health complications. Celiac disease can develop at any age, affecting both children and adults. Left untreated, celiac disease can lead to additional serious health problems. These include nutritional deficiencies, anemia, increased risk of infections, osteoporosis, dermatitis herpetiformis (an itchy skin rash), infertility or miscarriage, neurological conditions including seizures and migraines, and intestinal cancers.

Currently, the only treatment for celiac disease is lifelong adherence to a strict gluten-free diet. People living gluten-free must avoid wheat, rye and barley, found in many foods including bread, pasta and beer. Gluten is also used commonly as a filler in many processed foods. With the increased marketing and development of gluten-free foods, a gluten-free diet has become easier to follow. However, many people with celiac disease still find the diet restrictive and difficult to follow, especially when eating outside their home. In addition, the majority of people with celiac disease continue to demonstrate evidence of ongoing intestinal damage even while attempting to adhere to a strict gluten-free diet. Thus, there is a clear need for adjunctive therapies in the treatment of celiac disease.

There are additionally some people who may have “gluten intolerance” without having celiac disease. These people may experience symptoms of abdominal pain, bloating, diarrhea or fatigue when they eat a diet containing gluten. While these are common symptoms of celiac disease, these individuals do not have the characteristic small intestinal damage or tissue transglutaminase (tTG) antibodies found in celiac disease. It is not yet clearly understood what causes non-celiac gluten intolerance. Some experts have suggested that many symptoms attributed to gluten intolerance may be caused by FODMAP (fructose, olygosaccharides, disaccharides, monosaccharides and polyols)-containing foods that are largely eliminated in gluten-free diets.

Celiac disease is restricted to people with certain HLA class II genes. About 40 percent of people have these genes but only one percent gets the disease. This suggests that there are other important genetic or environmental factors that play into the immune reaction in celiac disease.

SYMPTOMS OF CELIAC DISEASE

Celiac disease can be difficult to diagnose because it may affect many organ systems outside the intestines. Some people with celiac disease have no symptoms. However, all people with celiac disease are at risk for long-term complications, whether or not they display any symptoms.

Does My Child Have Celiac Disease?

Digestive symptoms are more common in infants and children. Here are the most common symptoms found in children:

  • abdominal bloating and pain
  • chronic diarrhea
  • vomiting
  • constipation
  • pale, foul-smelling, or fatty stool
  • weight loss
  • fatigue
  • irritability and behavioral issues
  • dental enamel defects of the permanent teeth
  • delayed growth and puberty
  • short stature
  • failure to thrive
  • Attention Deficit Hyperactivity Disorder (ADHD)

Do I Have Celiac Disease?

Adults are less likely to have digestive symptoms, with only one-third experiencing diarrhea. Adults are more likely to have:

  • unexplained iron-deficiency anemia
  • fatigue
  • bone or joint pain
  • arthritis
  • bone loss or osteoporosis
  • depression or anxiety
  • tingling numbness in the hands and feet
  • seizures or migraines
  • missed menstrual periods
  • infertility or recurrent miscarriage
  • canker sores inside the mouth
  • an itchy skin rash called dermatitis herpetiformis

 Celiac Disease Biorepository. Scientists and clinical researchers will study the molecular and genetic profiles of people with celiac disease compared to healthy people. They will use BRI’s biorepositories to better understand the disease mechanisms at onset and investigate possible environmental factors that could contribute to celiac disease. The findings of this BRI research may lead to earlier diagnosis and possible prevention of celiac disease in the future.

CROHN’S & COLITIS

Crohn’s disease and ulcerative colitis (UC), both also known as inflammatory bowel diseases (IBD), are autoimmune diseases in which the body’s immune system attacks the intestines, resulting in intestinal inflammation, abdominal pain and bleeding.

Crohn's is most prevalent among ages 15-35

Crohn’s disease and UC differ primarily in where the inflammation occurs. In UC, inflammation is contiguous and limited to the lining (or “mucosa”) of the colon. Crohn’s disease can be patchy, and can involve any location in the GI tract, but most commonly involves the last part of the small intestine (called the ileum) and the colon. Inflammation in Crohn’s can burrow beneath the mucosa, causing scarring, abscesses or leaking holes called fistulas.

IBD affects approximately 1.6 million Americans (1 in 200), evenly divided between Crohn’s disease and UC, and between men and women. These diseases usually appear in young people, leading to many years of suffering and disability. IBD is more common in northern latitudes, like the Pacific Northwest, where an estimated 50,000 patients are thought to reside. Some likely factors that contribute to this geographic effect are vitamin D deficiency from lack of natural sunlight, genetic predisposition in the North European/Scandinavian heritage, and unknown environmental triggers.

RESEARCH ADVANCES 

BRI’s immunology research into IBD focuses on understanding the processes that initiate and perpetuate the inflammation, on designing targeted immune therapies to block or reverse these processes, and on clinical trials to evaluate effectiveness and safety of immune modulation in patients with ongoing disease.

Treatments for Inflammatory Bowel Disease (IBD)

Clinical Trials 

BRI works closely with the Digestive Disease Institute (DDI) at Virginia Mason, where approximately 2,000 patients with IBD are followed by one of the most highly acclaimed gastroenterology divisions in the Pacific Northwest, to provide clincal trials in IBD. The DDI maintains a robust IBD clinical research program with extensive experience in national clinical trials including past studies with abatacept and natalizumab, and ongoing studies with novel immunotherapies.

Translational Research 

Virginia Mason tracks clinical outcomes and important metrics of quality care in all patients with IBD. BRI researchers have established an IBD biorespository to better understand the biomarkers associated with the progression of these diseases and to identify targets for new therapies.

Laboratory Research 

Scientists are investigating the interactions between the intestinal mucosa and the regulatory mechanisms of the immune system, to better understand how these mechanisms break down in IBD. BRI scientists are also investigating how genes associated with autoimmunity alter the function of immune cells and lead to disease

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Published by Deepa Pawar

student of Bsc Nursing

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