Celiac disease is an inherited auto-immune disease that is characterized by diffused damage to the small intestinal mucosa leading to malabsorption of nutrients. The development of Celiac disease is attributed to a combination of genetic (HLA alleles) and environmental (gluten ingestion) factors. Celiac disease patients carry the gene identified as HLA DQ2 and/or HLA DQ8. Approximately 30% - 40% of the population in general carry one or both of these genes out of which about 1-5% are expected to develop Celiac disease. The incidence of disease is on the rise, and September 13 is observed as Celiac Awareness Day across the world.
The damage and the discomfort associated with Celiac disease is triggered by consumption of gluten. Gluten is a protein that is present in certain grains such as wheat, rye, barley but absent in rice, oats and corns. In a genetically susceptible host, gluten stimulates autoimmune responses wherein the body's immune system mounts an attack on its own tissues. Due to damage to the villi in the intestines, there is malabsorption of nutrients from food.
Celiac disease is not the same as gluten intolerance. Celiac disease involves autoimmune reaction to gluten and begins to target its own tissue, whereas gluten intolerance is when ingestion of gluten causes the body to have a stress response that does not involve the immune system. The symptoms of both the conditions may appear identical. However, Celiac disease has severe manifestations and may involve hives and rashes.
In case of Celiac disease, blood test shows the higher the levels of class IgA anti-tissue transglutaminase (anti-tTG) and anti-endomysial antibodies. Gluten intolerance is marked by gastrointestinal symptoms and no specific immunological mechanisms or serological markers are identified for this condition.
Celiac disease is partly a genetic condition and hence tends to run in families. Individuals with Celiac patient in their immediate family have a higher chance of developing Celiac disease. People with other autoimmune conditions like Type 1 diabetes, Thyroid disorders, Addison's disease and Autoimmune hepatitis are more likely to develop Celiac disease. People with other genetic conditions like Down's syndrome, Williams syndrome and Turner's syndrome are also at higher risk of developing Celiac disease.
Signs and symptoms of Celiac disease
Symptoms range from mild to severe manifestations and vary from adult patients to children. Celiac disease presents itself with both gastrointestinal and extra-intestinal symptoms. Abdominal pain, Type I diabetes, chronic constipation, recurrent non-bloody diarrhea, anemia, delayed puberty are some of the prominent symptoms noticed in children with Celiac disease. Intussusceptions, mouth ulcers, osteoporosis, brain fog, neurological dysfunction, unexpected weight and hair loss, nausea, bloating, anemia, inability to retain the pregnancy, migraines are the signs and symptoms identified with adult Celiac patients.
Diagnosis of Celiac disease is always a two step procedure - beginning with tTG-IgA and total serum IgA tests and conforming it with intestinal biopsy. The diagnosis is never based only on serology as anti tTG may be high in others diseases like inflammatory bowel disease and chronic liver disease. In addition, serology may be negative in patients with low IgA levels, or in children less than 2-3 years. Along with blood tests, genetic tests may also be ordered to check for the presence of the gene HLA DQ2 or HLA DQ8 in an individual. Almost all Celiac disease patients carry one of these genes. Finally the disease is confirmed by performing intestinal biopsy.
There have been recent guidelines by world renowned medical institutions that immediate family members should be screened for the disease as Celiac disease is genetic and other immediate blood relations in the family have a higher probability of developing Celiac disease than the general population. They should be screened at the time the index patient is diagnosed and thereafter, if they exhibit any symptoms, or at least annually. Early diagnosis can help prevent complications.
Treating Celiac disease
Right now, the only treatment for Celiac disease is to strictly adhere to lifelong gluten-free diet. Fruits, vegetables, dairy, fish and other seafood, beans, legumes can be safely consumed as all of these are gluten-free food groups. Grains such as rice, corn, quinoa, millet, teff, flax, chia and starchy roots like tapioca, potato are all gluten-free.
Avoiding gluten completely is not easy. Any occasional slip leads to a flare-up of symptoms instantly. Considering the fact that there are numerous cases of Celiac disease every year and the increasing numbers, there is serious research being conducted to come up with drug therapy. New drug treatments for Celiac disease are now being tested in clinical trials - some are designed to be taken alongside a gluten-free diet, whereas other set of medicines free the patient from all diet restrictions. Three main approaches have been proposed as new therapeutic modalities that include: gluten detoxification, inhibition of intestinal permeability and modulation of immune response.
Currently there are three drugs that are under clinical trails and seem to be successful in treating the condition.:
ALV003: It contains the enzymes that chop up gluten before it starts to activate the immune system.
AN-PEP: An enzyme that breaks down the residual gluten in the stomach.
Larazotide Acetate: May help inhibit immune reaction by blocking a protein that carries pieces of gluten across the gut.
However these drugs still require medical approval to be commercially available in the market.
Exocrine pancreatic insufficiency
An inability to break down and in turn digest food properly is Exocrine Pancreatic insufficiency (EPI). In other words, a deficiency of the exocrine pancreatic enzymes leads to maldigestion or inability to digest food.
Exocrine pancreatic insufficiency or EPI can cause problems in how we digest our food. If our pancreas do not make enough enzymes that the body needs to break down and absorb nutrients, then EPI occurs. Enzymes speed up chemical reactions in our body. The enzymes made by our pancreas move into the small intestine, where they help break down the food we eat.
So much so, that a person who suffers from EPI does not get enough nutrients as the body cannot absorb fats, vitamins or minerals from food. That is the reason why he/she loses weight or has pain in the stomach. Many are prescribed drugs that help substitute a new supply of enzymes, so that they can get back to digesting food the right way. The exocrine pancreas produce three types of enzymes namely amylase, protease and lipase.
Symptoms of EPI
Symptoms of EPI can vary, but the doctor should be contacted if one or more of these signs persist as these symptoms could also possibly arise due to GI condition. A person with EPI may not exhibit all the symptoms first but once the pancreas gets damaged, it starts to hurt due to inability to absorb fat; some symptoms may appear:
Frequent diarrhea: EPI can cause diarrhea as undigested food moves too quickly through the digestive tract.
Weight loss: As those with EPI cannot digest fats, proteins and carbohydrates in the food they consume, this can result in weight loss.
Steatorrhea or foul smelling greasy stools: This is a type of bowel movement that is oily, floats, smells really bad and is difficult to flush. As these patients cannot absorb all the fat they eat, undigested fat is excreted, resulting in stools that look oily or greasy, though not many experience this symptom. It is better to contact the doctor if oil droplets are noticed in the toilet bowl or stools that float or stick to the sides of the bowl and are hard to flush.
Gas and bloating: As these people cannot properly digest the food they eat, it can result in gas and bloating symptoms which can be acutely uncomfortable in public.
Stomach pain: Due to gas and bloating caused by maldigestion, frequent stomach pain is possible. Fatigue, edema or hypoalbuminemia, anemia or deficiency of B-12, Iron, folic acid, bleeding disorders, metabolic bone disease due to Vitamin D deficiency and neurologic manifestations are other related symptoms.
Causes for exocrine insufficiency could be pancreatic or non pancreatic. Chronic Pancreatitis and cystic fibrosis are the result of longstanding inflammation of the pancreas, and they alter the organ's normal structure and function. These arise as a result of malnutrition, heredity or lifestyle behavior such as alcohol use or smoking. In children, this could be caused due to a rare autosomal recessive genetic disorder resulting from mutation of a gene.
Damage to pancreas which is the leading cause of EPI happens when our pancreas get inflamed often when enzymes made by the pancreas start working when they are still inside it, before they get to the small intestine. If a person is alcoholic, then he/she is at risk. Pancreas gets inflamed when the passage way is blocked, if he/she has high levels of triglycerides, due to some immune system disorder.
A surgery on pancreas, stomach or intestine can cause damage. Inherited diseases such as cystic fibrosis or Shwachman-Diamond syndrome can damage pancreas. In case of cystic fibrosis, the body makes unusually thick and sticky mucus which blocks the passage in the pancreas and stops enzymes from getting out. If you have Shwachman-Diamond syndrome, you may be missing cells in your pancreas that make enzymes. Crohn's disease and celiac disease can also lead to EPI in some people.
The diagnosis of EPI is largely clinical and may go undetected because the signs and symptoms are similar to other Gastro-intestinal diseases. The signs and symptoms are also not always evident. Complete laboratory evaluation is required to diagnose EPI including the pancreatic function testing. The extent of malabsorption and manifestations underlying the disease has to be determined before treatment.
Tests to determine EPI include some blood tests to check if the person is getting enough vitamins and that pancreas are making enough enzymes, to check for celiac disease that can lead to EPI.
A 3-day fecal test is done to check the amount of fat in the bowel movements. Fecal elastase-1 is another test that is usually asked for. These tests can reveal if the pancreas is making enough enzymes. Other tests to check if the pancreas is inflamed include CT scan, MRI and Endoscopic ultrasound.
Normally prescription pills that replace the pancreatic enzymes are prescribed. Apart from a healthy diet, the main treatment for EPI is pancreatic enzyme replacement therapy PERT. These enzymes break down your food so you can more easily digest and absorb it. You have to take them during your meals. If you take them before you eat, the replacement enzymes may move through your stomach before your food gets there. If you take the pills after you eat, you have the opposite problem.
An antacid to keep the stomach from breaking down pancreatic enzymes before they can start to work is given. There are six FDA-approved pancreatic enzyme products that are only available by prescription. These include Creon, Pancreaze, Pertzye, Ultresa, Viokace, Zenpep.
Medicines are also prescribed to treat pain such as acetaminophen or ibuprofen. Otherwise, stronger pain drugs such as hydrocodone and oxycodone are given.
Some tips to manage EPI
The right diet is essential for EPI. A dietician can be consulted to help choose the food that keep energy level up and nutrition that the body needs. Instead of traditional three, eat six small meals per day. A big meal may not appeal if he/she has EPI troubles of digestion.
Do not drink as alcohol makes it even harder for body to absorb fat and can damage pancreas over time.
Take vitamins A, D, E and K to replace ones that are not getting absorbed from the diet.
It is essential that you do not lose much weight and a nutritionist can be consulted to help choose foods that have enough protein and nutrients in them. Support from friends and family is by far more important than the treatment itself. A doctor can help to put you in support groups.
Many diseases such as pancreatic cancer, cystic fibrosis, diabetes, and pancreatic cancer that are related to EPI cannot be controlled. But some factors can such as intake of heavy continual alcohol, combining alcohol with high-fat diet and smoking - all these that increase the chances of Pancreatitis can be controlled. Those with Pancreatitis caused by heavy alcohol use tend to have severe stomach pain and can develop EPI more rapidly. In case there is a family history of cystic fibrosis or Pancreatitis, this can increase your chances of developing EPI.
Weakness, loss of strength or lack of energy is described as Asthenia. This weakness results in reduced strength thus making it difficult for a person to perform or complete a task. This condition may be indicative of a larger problem/disease. Asthenia is experienced differently by different people thus making it difficult to understand the underlying problem.
The entire body may be affected or only a part of the body may be affected. Asthenia can affect people belonging to any age group. A person suffering from asthenia may not be in a position to complete any task. Asthenia as a condition may be continuos, chronic or temporary. It is more a symptom than a condition itself. It is not life threatening; but it does affect the quality of life. The weakness experienced can either be perceived or true.
Weakness is classified as true weakness when there is an actual loss in muscle strength and capability that may have been caused due to an injury or muscle defect. Weakness is termed as perceived weakness when the muscles of a person are functioning well and yet he feels unable to complete the task. This type of weakness is non-neuromuscular weakness.
Symptoms may vary depending on how much of the body is affected; part of the body or the entire body. The symptoms also vary depending on the underlying condition and other symptoms that exist. When the entire body is affected, the symptoms include:
When only part of the body is affected, the symptoms include slow movement, muscle twitching and muscle cramps. If asthenia is present along with other symptoms like extreme pain, slurred speech, confusion, change in vision etc, it needs immediate medical attention.
Common causes for asthenia include:
Sedentary lifestyle: Leads to muscle waste, muscle fibers are replaced by fat due to inactivity thereby reducing muscle fitness.
Advancing age: With age, the muscles in the body loosen or weaken.
Infection: Infection leads to muscle inflammation thus making it weak.
Chronic diseases: Chronic diseases may reduce blood and nutrient supply to muscles thus making them weak.
Vitamin deficiency; in particular vitamin B9
Anxiety or depression
Adverse effects of certain medicines
Treatment for other diseases like radiation therapy or chemotherapy
Chronic lung disease
Asthenia classified as per cause
Asthenia can be classified based on what causes the condition. Common types include:
The underlying cause of asthenia determines the treatment. Based on what has caused asthenia, treatment is prescribed.
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Diseases, Symptoms, Tests and Treatment arranged in alphabetical order:
Bibliography / Reference
Collection of Pages - Last revised Date: December 8, 2023