Tag Archives: autoimmune

Goodpasture Syndrome

Goodpasture syndrome is a rare autoimmune disease first discovered in 1919. It affects less than one in 500,000 people—according to some estimates, as few as one in two million people. The condition occurs when the immune system attacks the the glomeruli, or lining, of the lungs and kidneys. In the kidneys, the glomerular cells are part of the apparatus responsible for the first stage in filtering the blood, which is the function of the kidneys. When this cell layer is mistaken for an infectious agent, the immune system can cause significant damage.

In particular, this disease can result in patients coughing up blood. They will also experience shortness of breath and chest pain. Once the condition moves to the kidneys—or when it starts there—symptoms include swelling of the limbs, a puffy face, high blood pressure, or blood or protein in the urine, due to the disease harming kidney function. Goodpasture syndrome generally starts in the lungs first, and moves to the kidneys afterward. However, in 10 percent of cases it stays in the lungs, and about three times as often, it never affects the lungs at all.

It is not entirely clear what causes Goodpasture disorder. It is likely that some people are particularly susceptible to the illness, because there is a long list of possible triggers, things that damage the blood vessels in the lungs and draw the attention of the immune system, some of them quite common, but the disease remains rare.

These triggers include cigarette smoke, high oxygen levels, sepsis, cocaine, infections such as flu, metal dust, hydrocarbons, and organic solvents. There appears to be a genetic component, and certain gene mutations are themselves triggers. Recently, scientists found that the element bromine plays an important role in protecting the kidneys from the immune system.

It is important for Goodpasture syndrome to be treated quickly, because it can progress rapidly, and soon become fatal if let alone. Treatment generally means suppressing the immune system long enough for it to become acclimate again to the kidneys. Another treatment is blood purification, in which unwanted antibodies—to the body’s own organs—are removed. However, even once the disease is cured, the damage it has done remains.

About Myasthenia Gravis

Poor communication can cause all manner of trouble. That’s true not only between people, but even in a single person’s body. When the parts of the muscles responsible for receiving nerve impulses are mistaken by the immune system for disease and destroyed, the nerves can no longer properly communicate with the muscles, and voluntary muscle movements are affected, resulting in a condition called myasthenia gravis. Myasthenia gravis affects about one in 5,000 people. It can strike anyone at any time, but initial onset is most common people between the ages of 50 and 70 and in in women under 40.

It’s not always clear what causes the immune system to attack the muscles. Myasthenia gravis is one of the few autoimmune diseases that does not appear to have a genetic component, but there is probably an inborn predisposition that, in combination with environmental triggers, leads to the condition. People who take certain medications—some types of antibiotics, beta blockers, quinine, or some others—are more likely to develop the condition. Other risk factors involve the thymus gland, where immune antibodies are produced. Occasionally, myasthenia gravis patients have a non-cancerous tumor in the thymus gland. More often, an enlarged thymus exhibits excess activity, producing the undesired antibodies.

Because myasthenia gravis affects the brain’s ability to send impulses to the muscles, it interferes with voluntary muscle movements, though autonomous activity such as the heart beating remain unaffected. That means difficulty taking a breath or speaking—speech becomes soft or hoarse—trouble chewing or swallowing, facial muscle paralysis, double vision and problems looking people in the eye, and a feeling of having to work harder than usual to move, stand from a chair, or climb up stairs. Another symptoms is a diminished sense of smell, even though this doesn’t involve the muscles.

Fortunately, myasthenia gravis generally is easily treated. When there is a tumor involved, removing the tumor, or even all or part of the gland itself, generally clears up the condition. When there is not, a common approach is to flood the body with the neurotransmitter that relays the signal to the muscles, o compensate for the damage to the receptor sites. As with many autoimmune diseases, drugs that suppress the activity of the immune system alleviate the condition.

Scleroderma And Cancer

An estimated 300,000 Americans are living with systemic sclerosis. This is a chronic connective tissue disease more commonly called scleroderma, after the most common manifestation of the condition, a hardening and tightening of the skin along with internal connective tissue such as that which makes up the outsides of the internal organs. It is an autoimmune disease, caused by the immune system mistakenly attacking connective tissue as though it were disease, resulting in overproduction of collagen and the stiffening of tissue. It generally first appears between the ages of 30 and 50, and can be triggered or exacerbated by exposure to silica dust, certain industrial solvents, or other chemicals.

Another possible trigger for scleroderma, according to scientists, may be common forms of cancer. A gene mutation associated with cancer was determined in a recent study to produce the proteins flagged by the immune system as being from outside the body, setting off the immune response behind scleroderma. The idea of a genetic basis for scleroderma had previously been dismissed because the condition does not run in families, though it is more common among patients of particular ethnic backgrounds. This finding points at the gene in question being in the cancer itself, rather than the healthy tissue. While a link between scleroderma and cancer had previously been noticed, the causative relationship, if any, had not been established.

Scleroderma has also been referred to as CREST syndrome, an acronym for the major signs and symptoms of the condition. The C is calcinosis, in which calcium builds up in the skin and forms nodules. R is the constriction of blood vessels in the hands, called Raynaud’s phenomenon, which can impede blood flow in the fingers. E is esophageal dysfunction, or difficulty swallowing caused by the esophagus stiffening. S refers to sclerodactyly, the thickening of the skin on the fingers. T is the tiny blood vessels in the face and hands dilating, a phenomenon called telangiectasias. Other symptoms include acid reflux and oval shaped patches of thick skin called morphea.

Total Hair Loss

One in 200,000 people experience the most severe form of hair loss: a complete loss of all hair on the body. This is not just complete baldness on the head. This condition, called alopecia universalis, is complete hair loss. The hair on the head falls out, eyebrows and eyelashes, facial hair, body hair—all gone, every last strand.

This does more than just affect appearance. The loss of the eyelashes in particular means this condition is not without consequences, since the eyelashes play an important role in protecting the eyes from damage. The touch-sensitive lashes warn of approaching dust particles or other tiny irritants, triggering the reflex of closing the eye. The lashes can also trap dust.

It is unclear what causes this hair loss. Alopecia aereata, the condition of which alopecia universalis is a form, is a continuum, with people losing various amounts of hair—from total loss to small patches on top of the head—but different forms may have different causes. Alopecia is believed to be an autoimmune disease, in which the immune system mistakes the hair follicles for diseased tissue and destroys them. People with alopecia universalis have thyroid problems and a skin condition called vitiligo more frequently than the general population, so these conditions might be related; patients with vitiligo have reported it developing into hair loss as well. Another possibility is that it is a genetic disorder, with hairless people carrying a hair loss gene that affects the entire body.

There is no known treatment for this condition. The is little research on the usual treatments for autoimmune conditions on hair loss, however, corticosteroids and other treatments for an overactive immune system have been used with some success. In some cases, the hair spontaneously regrows, but this cannot be predicted or controlled. Hair regrowth medications such as minoxidil work, but can’t prevent future hair loss.

In the summer of 2014, a doctor reported on a case of a man who had been administered a drug for rheumatoid arthritis—a drug also used to treat psoriasis, the condition for which the man had been referred to that doctor—and who as a result experienced a reversal of hair loss; is is hoped that this patient will be the first of a number for whom the drug is an effective treatment.

Treatments For Lupus

The 1.5 to 2 million people—primarily some combination of black, female, and under 40—who have been diagnosed with the autoimmune disease lupus have such a wide range of symptoms that it can sometimes be difficult to pin down what is and isn’t lupus. Unlike most autoimmune diseases, which have a specific target such as the thyroid or skin, lupus can affect almost any part of the body. In particular, it causes problems with connective tissue within the organs. The most common symptoms are rash and sensitivity to light, though almost any symptom someone experiences could be lupus, particularly if there seems to be no other explanation.

In particular, experts note that the initial symptoms of lupus, such as headaches and seizures, are difficult to distinguish from symptoms of neurological problems, despite lupus not being a disease of the nervous system directly. People who have lupus are at an elevated risk for stroke, because it affects the heart, and about one n three lupus sufferers has migraines as a result. In some patients, lupus can even cause them to hear voices or experience mood swings. These factors can cause doctors to erroneously treat patients for neurological conditions they don’t actually have. Unfortunately, once lupus is correctly diagnosed, the treatments themselves may have adverse neurological effects.

Now a new treatment technique is being investigated that involves taking a personal approach to treating patients with lupus. Each individual case of lupus is different, and using DNA sequencing, doctors hope to discover what specifically is behind the disease in each patient and address the specific manifestation of the disease that patient has. This targeted treatment, if feasible, would reach the particular genetic irregularities in an individual patient and treat the patient’s disease directly.

Until then there are other experimental treatments being developed for lupus. One is actually derived from parasitic worms. Researchers hope that the same molecule that the parasites use to hide from the immune system could do the same for the organs that set it off in autoimmune diseases such as lupus. This would shield the organs from the immune system, without turning it down to the point that the patient is vulnerable to actual infections.

Crohn’s Disease Risks And Remedies

The chronic inflammatory bowl disease regional enteritis, or Crohn’s disease, is a condition that causes inflammation in the gastrointestinal tract. Although it can occur anywhere int he digestive tract, causing a correspondingly wide variety of symptoms, it most commonly is found in the ileum—the last section of the small intestine—and causes abdominal pain, bloody diarrhea, vomiting, and weight loss. While susceptibility to Crohn’s disease is inherited, the disease develops in response to environmental triggers and changes in the state of the microbes in the intestines that normally help with digestion. For example, antibiotic treatment can encourage the condition along, because it destroys beneficial gut bacteria, allowing other microflora to grow unchecked and upset the balance.

Crohn’s disease is generally believed to be an autoimmune disease, meaning the immune system treats a part of the body—in this case, the intestine—as an invader and responds accordingly. As with many autoimmune diseases, the industrialized world is involved in creating the environment in which the condition develops. The immune system is primed to attack parasites that are no longer prevalent, and locks on to the organs. Another view is that the immune system uses the parasites to practice on, and without having done so is poorly equipped to handle the gut microflora imbalance.

Risk factors for Crohn’s disease, in addition to a relatively clean upbringing and a family history of autoimmune disorders, include ethnic background (Ashkenazi Jews and French-Canadians are particularly prone to it) and cigarette smoking. Smoking not only increases the risk of Crohn’s, but it can worsen the disease when it does develop. Painkillers of the type called NSAIDs can also make it worse. Obesity is another factor, affecting "self-tolerance," or the immune system’s ability to recognize the organs as belonging there.

Treatment involves reducing inflammation, tamping down the immune system, and inhibiting the activity of a type of fat cell called TNF-α. A recent study determined that a class of drugs called thiopurines can be used to treat Crohn’s very successfully, reducing he need for surgery by more than 50 percent. Steroids are also used for the illness, though another study found evidence that steroidal treatment may increase the need for surgery, which may prompt a re-examination.

Tracking MS Causes

Nearly half a million Americans experience symptoms including numbness or weakness on one side of the body, vision loss on one side of the body, dizziness and slurred speech, tingling and electric shock-like sensations, and bowel and bladder difficulties. These are symptoms of multiple sclerosis which occurs when the protective covering over the spinal chord is damaged or destroyed. The symptoms usually start to appear in the person’s late teens to late 50s, but scientists recently found that there are antibodies in blood that can be found some time before any symptoms start to appear.

The antibodies appear to be what is attacking the protective layer, called the myelin sheath, but it is unclear what cases them to form. Risk of developing multiple sclerosis goes up further from the equator, though with prominent exceptions including high-risk Sardinians in the tropics, low-risk American Indians and Māori closer to the poles. This geographical factor is unusual except in parasitic illnesses, but there is no evidence multiple sclerosis is caused by a parasite. It has been suggested the the condition is triggered by bacteria; a recent study found that food poisoning, in particular a toxin produces by a species of the foodborne bacteria Clostridium, can damage myelin, but this may not be the sole cause.

While multiple sclerosis does not appear to be hereditary, it does often appear with autoimmune diseases, most of which are, and there is a genetic component to risk. Another thing that increases the risk is use of hormonal birth control. Women who in a study, took pills the combined estrogen and progestin were more than one third more likely to develop multiple sclerosis than women who weren’t on the pill. It was not clear whether different combinations of hormones, or hormonal birth control not taken orally, had the same effect.

A link has also been found between sleep disorder and multiple sclerosis. This, researchers say, may be the fatigue that is often part of the disease. An earlier study found that many people with multiple sclerosis also suffer sleep apnea, but one reason for that may be that obesity is a risk factor for both. The more recent study found that around a third of multiple sclerosis patients experience moderate to severe insomnia, though most are undiagnosed.

Ending Lupus

Lupus is an autoimmune disease primarily affecting women, black people, and teenagers and adults under 40; people who are all three are not only at especially high risk for lupus, they are more likely to have life-threatening complications. All autoimmune diseases involve the immune system attacking a healthy organ as though it were foreign matter, but lupus is distinguished by its lack of specificity&mash;it can involve the skin, kidneys, lungs, heart, blood cells, joints, or even the brain. As a result, it can be difficult to spot. More precisely, it’s easy to spot, but difficult to rule out, due to the wide variety of symptoms that could, conceivably,be attributed to lupus and the tendency of different symptoms to appear in different patients. As a result, lupus is generally diagnosed only when other possibilities have been eliminated.

Treatment for lupus is centered around medications called glucocorticoids to fight inflammation and rein in the immune system. However, these medications can have severe side effects, including weight gain, high blood pressure, bruising, diabetes, bone loss, and heightened infection risk. Now a new study in Spain has found success with an old treatment. Drugs used to fight malaria, such as hydroxychloroquine, have been used for lupus since the Second World War, and have been shown to be effective&mash;in mild cases, patients taking hydroxychloroquine may not need any other treatment.

Other research is focused on more permanent treatments. In a study conducted in Chicago, synthetic proteins, called peptides, that imitate proteins that play a role in regulating the immune system. The synthetic peptides effectively stood down the immune cells that were working on the patients’ own healthy tissue, without the severe and dangerous side effects of the medications used against the disease.

Interestingly, a patient with both lupus and HIV was found to benefit from the combination&mash;the overactive immune response of lupus overcame the immune deficiency caused by HIV, and prevented the latter disease from having a strong effect. Researchers are exploring the phenomenon and trying to use what they are learning from studying this patient to develop a vaccine for HIV. However, the effects of HIV did not, in turn, modulate the lupus.

Treating Psoriasis

Psoriasis is an autoimmune condition that causes excessive growth of the skin cells. It is the most common of all autoimmune diseases, affecting millions of Americans. Psoriasis outbreaks tend to be triggered by stress or cold weather, though they can also result from sunburns, infections, or even cigarette smoking. Flare-ups usually mean red scales, dried and cracked skin, or itchy, scaly, pink skin. Usually it affects the elbows or knees, but psoriasis can happen anywhere there is skin. On the scalp, psoriasis is a common cause of dandruff. Psoriasis can also turn the fingernails yellow, and many patients report joint pain as well.

Psoriasis should be distinguished from eczema. Both are characterized by itchy, scaly skin, but the two are different conditions. Psoriasis is an autoimmune disorder, caused by the body’s immune system treating the patient’s own skin as foreign tissue and attacking it. Eczema can be an allergic reaction which is similar to autoimmunity in that the immune system kicks into gear against something harmless, but in the case of eczema, that harmless thing is legitimately foreign matter. Nonetheless, it can be difficult for dermatologists to determine which of the diseases a particular patient has—it might even be both. Scientists have recently developed a genetic test to help doctors tell the diseases apart. This is an important step because the different causes mean different treatments are needed for anything more than short-term symptom relief.

One new treatment for psoriasis involves a protein in the skin that, when stimulated, has been found to prevent the inflammation associated with the disease under laboratory condition. Researchers suggest that, even if this treatment alone is not entirely effective, it can be used in combination with medication to enhance its effectiveness and show results sooner.

Another treatment uses a medication called secukinumab that is already used for other autoimmune diseases. This medication reduces the action of a type of immune cell that is also involved in asthma and rheumatoid arthritis. In tests, it was shown to be more effective than the current treatments, which are anti-inflammatory drugs to address that aspect and vitamin D to help heal the skin.

Arthritis In Children

Juvenile arthritis is one of the most common childhood diseases in the United States, responsible for an average of 827,000 hospital visits to treat children and adolescents with these conditions each year. In all, around 294,000 children under the age of 18 are affected by pediatric arthritis and rheumatologic conditions. An autoimmune condition, juvenile rheumatoid arthritis is characterized by experience joint pain and stiffness, especially when getting up in the morning or after a nap, and swelling of the knees and other joints.

If the condition is not properly and promptly treated, children who have it could have poor bone development, and might not grow normally. Another condition common with juvenile arthritis is an eye inflammation called uveitis. Although uveitis is asymptomatic itself, it affects the eye's shape and can result in various vision problems later in life, including cataracts and glaucoma, and in some cases can cause total blindness. Children are more at risk for permanent damage from rheumatoid arthritis than adults are because their immune systems are still developing.

Juvenile rheumatoid arthritis is an inherited genetic disease; so far, scientists have linked variants of around 20 genes to the various forms of the condition. However, not everyone with arthritis-causing variants of those genes will develop rheumatoid arthritis. The genetics simply lead to vulnerability—someone born with the rheumatoid arthritis genetic trait will develop the disease in response to certain environmental factors that don't have that effect on most people. The leading hypothesis is that children raised in scrupulously clean environments develop autoimmune diseases such as arthritis because the immune system needs something to latch on to.

It is particularly important to treat arthritis in children because it could isolate them, leading to poor socialization during childhood. The focus of treatment is to enable kids to be physically active and socially involved with their peers. Painkillers and anti-inflammatory drugs are prescribed for the symptoms, with care taken not to interfere with the child's development. Physical therapy helps the child avoid flare-ups, and participate fully in childhood.