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Disease Spotlight: Celiac Disease

Misconceptions abound in the autoimmune disease world, and celiac disease has more than its fair share!  Some of the questions celiac sufferers get:

“Is gluten sugar?”

 “One piece of bread won’t hurt you, right?”

“I mean, what would actually happen if you ate gluten?”

“Do you want the gluten-friendly menu?”

When misinformation abounds, patients can feel frustrated and misunderstood. One of our goals at Autoimmune Registry is to provide clear answers to questions to reduce the confusion surrounding autoimmune diseases like celiac disease. 

Celiac disease, sometimes spelled “coeliac”, is also known as celiac sprue, non-tropical sprue, sprue, and gluten enteropathy, is a malfunction of the immune system that only happens when a person eats gluten.  When gluten is traveling through the intestines, it causes the immune system to attack the “villi” – the microscopic “fingers” of the intestines that absorb food.  Over time, that attack can cause permanent damage to the intestines and a person can starve. Celiac disease is not the same as a gluten allergy, gluten intolerance, or gluten sensitivity, though a patient may be diagnosed with all 4 conditions before a correct diagnosis of celiac disease is made with a biopsy.  

Celiac disease symptoms can range from stomach upset and constipation to diarrhea to vomiting.  Without proper care, celiac sufferers can experience fatigue, migraines, joint pain, infertility, osteoporosis, anxiety, and depression.  Children with undiagnosed celiac disease can end up with short stature.  Some patients feel no symptoms at all initially — but the damage is still happening internally.

There is evidence that only people with certain genes get celiac disease, but not everyone with celiac has those genes, and only a small number of people with those genes actually gets celiac disease.  

There are several types of celiac disease: celiac disease, non-responsive celiac disease (NRCD) and refractory celiac, the most serious and severe of these three types.  All forms of celiac disease have the potential to be serious and life-altering. 

The only way to be sure if you have celiac diagnosis is to have a biopsy done by a doctor. There are also several blood tests that look for certain elevated antibodies. Celiac affects 1 in 100 people worldwide. About 1% of the United States’ population has celiac. For many patients, a correct diagnosis of celiac could take 6-10 years.

There are no medications specifically for celiac disease but there are medications to manage some of the symptoms. The only guaranteed way to manage celiac disease is to follow a strict, 100% gluten-free diet. That means eliminating all food that normally contains gluten, like most bread and cereal, as well as any foods that might have come into contact with gluten or that you might not expect to contain gluten, like medications, makeup, bath products, and more. Gluten can also be hidden in dyes, additives, preservatives, and both natural and artificial flavorings. Even soy sauce, licorice, and gummy bears may contain gluten. 

For patients with NRCD or refractory celiac, the gluten-free diet is not completely effective – the attack on the villi continues even without eating gluten. These forms of celiac disease are more damaging than “regular” celiac disease.

Researchers are working hard to find better ways to treat all forms of celiac disease. 

If you’re one of the 1% of Americans with celiac, you’re not alone. There are some great organizations, bloggers, and patient advocacy groups to help you along your journey. If you have celiac, you should see a gastroenterologist and a professional nutritionist or dietician, and also be sure to check out Beyond Celiac and the Celiac Disease Foundation.

If you live with celiac, we would love to hear your story. Feel free to email ashley@autoimmuneregistry.org if you wish to contribute a guest blog about life with celiac disease.

In the meantime check out our celiac fact sheet, here.

Disease Spotlight: Lupus

The next autoimmune illness that we are focusing on in our Disease Spotlight series is represented by a butterfly, due to its characteristic butterfly rash. Do you think you know which autoimmune disease it is?

If you guessed lupus, you are correct!

In lupus, the autoimmune system attacks many different body systems, including joints, skin, kidneys, blood cells, brain, heart, reproductive organs, and lungs.  Some types of lupus have special names. Discoid lupus primarily affects the skin. Lupus nephritis primarily affects the kidneys. There is also a type of lupus called drug-induced lupus, but often when people are referring to lupus, they are talking about SLE: systemic lupus erythematous. 

Lupus is difficult to diagnose, because as with many autoimmune diseases, its signs and symptoms often mimic those of other ailments, such as rheumatoid arthritis, Sjogren’s Syndrome, and scleroderma. 

Lupus can be an incredibly painful, debilitating, and life-altering condition with serious complications. Symptoms of lupus include fatigue, fever, joint pain, stiffness, a butterfly-shaped rash across cheeks and bridge of nose, sensitivity to light, Raynaud’s phenomenon, dry eyes, shortness of breath, chest pain, muscle pain, and “brain fog”. 

Scientists estimate that 1.5 million Americans live with some form of lupus, and patients are often diagnosed in their 20s or 30s. Lupus often affects more women than men and is more common among those from African-American and Asian heritage. 

Sun exposure, stress, infections, and poor diet can trigger lupus flare-ups. 

Lupus is diagnosed through a series of blood tests, physical exams, and imaging/scans.  Typically, rheumatologists specialize in lupus but other specialists are often consulted. There is no cure for lupus Aspirin, ibuprofen and, in severe cases, steroids, are used to treat the symptoms of lupus. Anti-malarial drugs, DMARDs, and immunosuppressive drugs are used to calm the immune system to limit its attack on the body’s healthy tissue. Patients are often referred to physical therapy as well.

Celebrities with lupus, including Selena Gomez, Toni Braxton, Lady Gaga, and Nick Cannon,  have increased the public awareness of lupus.

There are some great organizations, bloggers, and patient advocacy groups out there, too, to help you along your journey. Be sure to check out the Lupus Foundation of America, Arthritis Foundation, and the Lupus Research Alliance, among others.

If you live with SLE, we would love to hear your story. Feel free to email ashley@autoimmuneregistry.org if you wish to contribute a guest blog about life with lupus.

 

 

  

Disease Spotlight: Behçet's Disease

Have you ever heard of Behçet's disease? Probably not! It’s a rare autoimmune disease and is the subject of today’s Disease Spotlight -- a perfect choice for World Rare Disease Awareness Day!

Behçet's disease is marked by recurrent canker sores and genital ulcerations. But there are many other symptoms, some of which are not as obvious, including blurred vision, vision loss, sores on scrotum in men, sores on vulva in women, acne-like bumps on the skin, pain in joints, fever, headache, stiff neck, confusion, swollen joints, bleeding in stomach or intestines, and it can affect major organs like the kidneys and lungs.

When a disease affects so many different parts of the body doctors call it “multi-systemic”, a category that includes lupus and rheumatoid arthritis.

How can one disease affect so many different parts of the human body? Think of each of your body’s organs and systems as recipes. Many of these recipes share an ingredient, like cream. And if the cream is bad, every one of those recipes will taste bad.

In an autoimmune diseases like Behçet's, the immune system attacks a single protein in your body. Scientists studying Behçet's disease suspect that a protein called “carbonic anhydrase” is the protein being attacked. As a result, every organ or tissue that uses that protein is affected. This “carbonic anhydrase” protein is used to make blood vessels and other things.

The prevalence of Behçet's disease is highest among people of Middle Eastern and Japanese heritage. Estimates of prevalence vary dramatically, with estimates between 650 to 20,000 people in the US. We hope that our registry will help figure out the actual prevalence of Behçet's disease and other autoimmune diseases.

Behçet's disease most commonly affect patents between 20 and 40 years old, with an average onset of 25-30 years old. Patients who develop Behçet's before age 25 are more likely to involve eye disease. Men are more likely than women to develop more severe symptoms, such as blindness.

Despite being a rare disease, there are organizations and advocacy groups to help patients with Behçet's disease. Be sure to check out the American Behcet’s Disease Foundation, Global Genes and The Behçet's Blog. The Vasculitis Foundation also has information about Behçet's disease, here.

If you live with Behçet's disease, we would love to hear your story. Feel free to email ashley@autoimmuneregistry.org if you wish to contribute a guest blog about life with Behçet’s.

Be sure to check out our Behçet's Disease fact sheet, here.

Disease Spotlight: Sjögren's Syndrome

Autoimmune Registry strives to be a trusted source of information on autoimmune disease for patients, doctors and researchers.  Our Autoimmune Diseases List is the most complete list available. The list includes every suspected autoimmune and autoimmune-related condition. Not all scientists or doctors agree on which of these diseases are really autoimmune, so we provide links to peer-reviewed papers that support inclusion on the list as well as an indication of how widely accepted the classification is.  There might never be agreement on which diseases are “officially” autoimmune, but we can provide the best data on the current science. Disease Spotlight blog posts like this one increase awareness about each disease.

Today we are featuring Sjögren's syndrome.  Pronounced SHOW-grins — it is also called sicca syndrome.  Symptoms include dry mouth and dry eyes, a burning or “gritty” sensation in the eyes, joint pain, joint stiffness, swollen joints, swollen salivary glands, rashes and dry skin, vaginal dryness and discomfort, persistent dry cough, and intractable fatigue. 

Living with Sjögren's can be physically and emotionally draining, and painful. Like other autoimmune diseases, the patient’s own body is attacking itself, destroying healthy cells, tissues, and organs. With Sjögren's, the immune system attacks and destroys the glands that produce tears and saliva. In some cases, sweat glands and other mucosa or body parts (like the joints) are affected. 

The symptoms of Sjögren’s may be referred to by healthcare providers as keratoconjunctivitis sicca.  Not everyone with these symptoms has Sjögren's and testing is needed to confirm that autoimmunity is the cause. 

The typical age of onset for patients with Sjögren's is around 45 years of age, but it can happen at other ages as well.  Estimates of prevalence have fluctuated over the years. The most current estimate is that 2,128,000 individuals in the United States live with Sjögren's. 

Although some consider Sjögren's to be a rare disease, patients with Sjögren's are not alone and do have resources to which they can turn. We strive to be one of them. In fact, the President of the Autoimmune Registry, Aaron Abend, started this registry because of his own mother’s Sjögren's diagnosis. Other organizations that may be of help to Sjögren's patients include The Sjogren’s Syndrome Foundation, the Arthritis Foundation, and patient bloggers like the ones listed here on our Sjögren's Profile. 

If you live with Sjögren's, we would love to hear your story. Feel free to email ashley@autoimmuneregistry.org if you wish to contribute a guest blog about life with Sjögren's syndrome. 

In the meantime check out our Sjögren's fact sheet, here.

 

 

 

 

Disease Spotlight: Acute Disseminated Encephalomyelitis

Next up on our tour of all-things-autoimmune is acute disseminated encephalomyelitis, otherwise known as ADEM. While this autoimmune disease doesn’t have as many pseudonyms as some of the other ones that we’ve spotlighted, it sure is a mouthful to say!

It is also a disease full of other complexities. 

ADEM is very rare. ADEM is episodic or “acute”, which means that patients affected by the disease may recover completely, unlike the many autoimmune diseases that are chronic. Because it is so rare and is an acute autoimmune disease, the prevalence has been hard for researchers to establish. 

Typically, ADEM affects younger patients. In fact, 80% of ADEM patients are under the age of 10. Most of the rest are under age 20. (It is considered to be very rare in those over 20 years old.)

A lot of juvenile acute disseminated encephalomyelitis patients contract the disease post-vaccination. This isn’t a reason to avoid the pediatrician or join the anti-vaccination movement — it can occur after an infection, too. A bacterial or viral infection is usually the trigger in young patients, although ADEM can sometimes come along without an apparent causative factor. 

Parents with a child or teen who has ADEM usually discover the condition after taking them to the doctor for symptoms mimicking an array of other diseases. Symptoms include confusion, drowsiness, loss of balance, general shakiness or unsteadiness, falling, blurry vision or double vision, generalized malaise, pain, trouble swallowing, limb weakness, and even seizures. These symptoms are frightening and they describe a wide variety of neurological conditions and infectious diseases. Many doctors initially mistake it for multiple sclerosis. 

So what exactly is ADEM? Like many autoimmune diseases, ADEM involves disruption of the immune system that causes it to destroy healthy cells, organs, or tissue, and also leads to inflammation.  In ADEM the immune system attacks a myelin, a protein-based membrane that surrounds the brain and the spinal cord. Like multiple sclerosis (which is also an autoimmune disease) ADEM can also affect the optic nerve and disturb or impair vision. 

Doctors don’t know why this acute immune disorder mostly affects younger patients rather than adults. What researchers have found, however, is that boys are more likely to develop ADEM than girls, and that ethnicity does not seem to play a role.

Diagnosing a rare disease like ADEM presents many challenges to physicians. Because it so closely mimics MS and even shares likenesses with systemic migraines, it may take some outside-the-box thinking on the doctors’ part to make an accurate ADEM diagnosis. Patients undergo a physical exam along with MRIs, blood tests, and a spinal tap. Other neurological and infectious conditions must be ruled out before a correct ADEM diagnosis can be made.

Unlike some autoimmune diseases that are labeled as rare when they are not, ADEM appears to rightfully fall into the rare disease category. 

But even diseases that are so-called “zebras” in the medical community deserve to be studied —and patients with these diseases need to connect with others like themselves to realize they are not alone. 

This kind of progress begins with you. So we ask that you get involved. We need donations to our nonprofit organization. We also need patients to fill out our survey — and for patient advocacy groups (PAGs) to begin sharing information both with us and about us. 

We’re looking for guest bloggers, too, to share the ADEM patient experience so that you have a place to go for information and commiseration.

If you live with ADEM or are an ADEM blogger, patient advocate, or advocacy group, we’d love to hear your story. Please email ashley@autoimmuneregistry.org if you wish to contribute a guest blog about life with acute disseminated encephalomyelitis. 

In the meantime, please visit the Transverse Myelitis Association or the Acute Disseminated Encephalomyelitis Support Group for more information. You may also acquire info from the National Multiple Sclerosis Society. Please check out our ADEM fact sheet, here

… And don’t forget to join our free registry, so we can learn more about what life is like for you as an autoimmune patient. 

Disease Spotlight: Autoimmune Thrombocytopenic Purpura

Today’s Disease Spotlight is on autoimmune thrombocytopenic purpura, a bleeding disorder caused when your immune system destroys your platelets – the cells in your blood that allow it to clot. Like many diseases on our list — you guessed it!! — this one goes by several different names. 

Autoimmune thrombocytopenic purpura is also known as immune thrombocytopenic purpura, idiopathic thrombocytopenic purpura, or by initials ATP and ITP (where the “I” stands for idiopathic or immune), or even just thrombocytopenia.  Some will refer to it simply as purpura. Some medical professionals don’t use the terms idiopathic or autoimmune at all when referring to thrombocytopenic purpura. 

As we’ve discussed in previous blog posts, when a disease goes by many names, patients may not realize that others are suffering alongside them simply because of the name their doctor used for their disease andeach name may be seen as rare by the medical community. Just imagine a disease that sickens 1 million people (like Parkinson’s), but there are 4 different names being used. That could mean only 250,000 patients use one of those names – and that is small enough to be categorized as a rare disease by the National Institutes of Health. Being a rare disease may be an advantage for some funding, but it gives everyone the impression that it’s not as big a problem as it really is.

To confuse things further, ITP can refer to the condition whether it is caused by autoimmunity or not. This is true of many conditions caused by autoimmunity. The problem is that the immune system causes damage. That damage is what leads to the illness, but that damage could be caused by other things – a virus, age, or even injury.   Because we are focused on autoimmune diseases, we are interested in the autoimmune form of the condition. 

ITP can mean idiopathic or immune, so we will use ATP since it clearly refers to autoimmune-caused thrombocytopenic purpura.

ATP can be chronic or acute. Most autoimmune diseases are chronic, but not all of them are.  Other examples of acute, relapsing, or sporadic autoimmune illnesses include certain forms of multiple sclerosis and some types of hepatitis, among others. 

So what is ATP?  

In patients with ATP, antibodies mistakenly identify healthy platelets as invading microbes and the immune system destroys them. An excellent description of how this happens can be found on the Platelet Disorder Support Association website. 

 

Since platelets are the cells in the blood that allow it to clot, the blood in patients with ATP does not coagulate (clot) properly. That leads to one of the most common symptoms:  bruising, with red or purple (“purpura” is Latin for “purple”) spots on the skin, which gives the condition its name. Other symptoms include frequent nosebleeds, bleeding gums, heavy menstrual periods in women, blood in urine or stool, and, in rare cases, even brain bleeds. As with many autoimmune diseases, fatigue is also a hallmark of this condition.

The prevalence of ATP is currently estimated at 30,000 people in the United States. The Autoimmune Registry continues to gather data about this and other autoimmune diseases so that we can confirm existing prevalence data and begin to understand the patterns and underlying causes of these diseases.

It starts with you — so please, get involved! We need donations to our organization, patients to fill out our survey, and patient advocacy groups (PAGs) to begin sharing information with us and about us. We’re looking for bloggers, too, to share the ATP patient experience so that you have a place to go for information and camaraderie. 

So, if you live with thromobcytopenic purpura or are an ATP/ITP blogger, patient advocate or advocacy group, we’d love to hear your story. Please email ashley@autoimmuneregistry.org if you wish to contribute a guest blog about life with ATP. In the meantime, please visit the Platelet Disorder Support Association or the ITP Foundation for more information and check out our ATP fact sheet, here. And don’t forget to join our free registry, so we can learn more about what life is like for you as an autoimmune patient. 

Disease Spotlight: Antiphospholipid Syndrome

The Autoimmune Registry, Inc. (ARI) provides patients with the opportunity to be a part of the solution when it comes to improving patient outcomes by filling out a simple, free survey. But we are more than just data. Our goal is to be the go-to resource for autoimmune disease. 

This is just the second in our new Spotlight series that will eventually highlight every one of the autoimmune diseases in our master list. 

Today, the focus is on Antiphospholipid syndrome.

It’s an illness known by many names — one alias after another. The many names that autoimmune diseases go by is a problem – it only adds to the feeling that patients are suffering alone with a rare illness, when in fact, there may be many others they could connect with.  This “naming confusion” can also decrease understanding and awareness among the general public.

So how many names does antiphospholipid syndrome have? Let’s see … 

Antiphospholipid syndrome is also referred to as anticardiolipin antibody syndrome, aCL syndrome, aPL syndrome, APS, Hughes syndrome and lupus anticoagulant syndrome. But … a rose by any other name will smell as sweet… or something like that, right? 

Only, living with APS isn’t so sweet. In fact, it’s pretty complicated and can be life-altering, as many autoimmune conditions are. 

Adding to the complexity is that APS doesn’t always go it alone. Patients with lupus and other mixed connective autoimmune disorders often have antiphospholipid syndrome, in addition to their primary diagnosis.

All of the diseases that we focus on here at ARI are autoimmune or autoimmune-related A common feature of autoimmunity is that the body’s immune system attacks healthy tissue.

In the case of APS, the immune system mistakenly attacks proteins in the blood. This can cause coagulation, otherwise known as clotting. This clotting can be dangerous. Luckily, APS is often manageable through proper diagnosis, lifestyle changes, and medications. We’re working to establish the prevalence of APS, but current estimates place it around 144,000 cases in the U.S. 

Whew! That’s a lot of info to absorb. Luckily, we will continue to provide resources for you to make it all a bit easier to comprehend — from featured APS bloggers, to patient advocacy groups, to our fact-sheet, and more, we’re here to help you get the info you need about APS.

If you live with antiphospholipid syndrome or are a APS blogger or advocate, we’d love to hear your story. Feel free to email ashley@autoimmuneregistry.org if you wish to contribute a guest blog about life with APS. In the meantime, please visit The APS Foundation of America for more information and check out our APS fact sheet, here. And don’t forget to join our free registry, so we can learn more about what life is like for you as an autoimmune patient. 

Disease Spotlight: Addison's Disease

One of a few major goals of the Autoimmune Registry is to be a trusted resource for researchers, doctors and patients on every autoimmune disease.  Today we begin the task of creating a Profile page for each autoimmune condition.

Our first spotlight is on Addison’s disease.

Our disease profiles give you a thumbnail picture of Addison’s including: 

Names. Though it sounds simple, naming autoimmune diseases is not always simple. Many diseases have 2 names, one from the scientist who first recognized the disease and defined it, and another that describes the underlying mechanism of the disease. Addison’s disease was discovered by Thomas Addison in 1855. But it is also known hypocortisolism and, more specifically, autoimmune hypocortisolism, because that more accurately describes the disease from a medical perspective. 

Patient Groups: The Autoimmune Registry is not a patient advocacy or support group. But we do collaborate with these groups and want to make sure patients know what resources are available to help them. Any non-profit group that focuses on the profile disease will be listed. If you think your group should be listed, please contact us.

Bloggers:  Hearing how other people with your disease cope with life can be helpful and inspiring. We list all bloggers focused on the disease who have at least one blog post within the past 12 months. If you find one we have missed, please let us know.

Prevalence: Prevalence refers to the number of people that we believe are currently suffering from this disease. Our estimates for Addison’s are between 16,000 and 80,000 people in the US, of which 75% are women. This is a common pattern for autoimmune diseases. All of our estimates come from papers published in scientific journals, government websites (like those from the National Institutes of Health and other organizations), and academic institutions.  Links to the sources can be found on the Profile Page.

We also aim to provide other miscellaneous data, including average age of onset, a list of symptoms, and more. The list of symptoms for many of these diseases is vague. So if you are a patient or medical professional and think that we are missing a symptom, please let us know.

Our disease Profiles will also contain Additional Resources, including links to Clinical Trials, links to the websites we used to obtain our data, and a link to PubMed, a national database of scientific publications, so you can quickly find scientific evidence. 

If you live with Addison’s disease, we would love to hear your story. Feel free to email ashley@autoimmuneregistry.org if you wish to contribute a guest blog post about life with Addison’s. In the meantime, please visit the National Adrenal Diseases Foundation for more information and check out our Addison’s fact sheet, here.

It's #GivingTuesday

Today is #GivingTuesday, and even though our new site is currently under construction, you may still donate to our cause directly at autoimmuneregistry.org, or, via a Facebook fundraising campaign, here.  

If you live with an autoimmune illness or know someone who does, your story counts. We want to make sure that autoimmune diseases count, too. 

The Autoimmune Registry is a 501c3 non-profit organization that seeks to provide a single database for individuals suffering from autoimmune illness.

This hub for research, statistics, & patient data on all autoimmune diseases launches soon, and every dollar will count towards helping us to keep our mission alive. 

Please donate today and keep an eye on our new website, coming in December 2016!

#MyGivingStory #GivingTuesday