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Autoimmune Disease have
become the number one disease process today! In the whole world.
What is cystic fibrosis?
Cystic fibrosis is an inherited
disease of the mucus glands that
affects many body systems. The
disorder's most common signs and
symptoms include progressive damage
to the respiratory system and
chronic digestive system problems.
Mucus is a slippery substance that
lubricates and protects the linings
of the airways, digestive system,
reproductive system, and other
organs and tissues. In people with
cystic fibrosis, the body produces
mucus that is abnormally thick and
sticky. This abnormal mucus can
obstruct the airways, leading to
severe problems with breathing and
bacterial infections in the lungs.
These infections cause chronic
coughing, wheezing, and
inflammation. Over time, mucus
buildup and infections result in
permanent lung damage, including the
formation of scar tissue (fibrosis)
and cysts in the lungs.
Most people with cystic fibrosis
also have digestive problems because
thick, sticky mucus interferes with
the function of the pancreas. The
pancreas is an organ that produces
insulin (a hormone that helps
control blood sugar levels). It also
makes enzymes that help digest food.
In people with cystic fibrosis,
mucus blocks the ducts of the
pancreas, preventing these enzymes
from reaching the intestines to aid
digestion. Problems with digestion
can lead to diarrhea, malnutrition,
poor growth, and weight loss. Some
babies with cystic fibrosis have
meconium ileus, a blockage of the
intestine that occurs shortly after
birth.
Cystic fibrosis used to be
considered a fatal disease of
childhood. With improved treatments
and better ways to manage the
disease, many people with cystic
fibrosis now live well into
adulthood. Adults with cystic
fibrosis experience medical problems
affecting the respiratory,
digestive, and reproductive systems.
For example, most men with cystic
fibrosis are unable to father
children (infertile) because the
tubes that carry sperm (the vas
deferens) are blocked by mucus and
do not develop properly. This
condition is known as congenital
bilateral absence of the vas
deferens (CBAVD). Infertility is
also possible, though less common,
in women with cystic fibrosis.
How common is cystic fibrosis?
Cystic fibrosis is a common genetic
disease within the Caucasian (white)
population in the United States. The
disease occurs in 1 in 2,500 to
3,500 Caucasian newborns. Cystic
fibrosis is less common in other
ethnic groups, affecting about 1 in
17,000 African Americans and 1 in
31,000 Asian Americans.
What genes are related to cystic
fibrosis?
Mutations in the
CFTR gene cause cystic fibrosis.
The CFTR gene provides instructions
for making a channel that transports
negatively charged particles called
chloride ions into and out of cells.
The flow of chloride ions helps
control the movement of water in
tissues, which is necessary for the
production of thin, freely flowing
mucus.
Mutations in the CFTR gene
disrupt the function of the chloride
channels, preventing them from
regulating the flow of chloride ions
and water across cell membranes. As
a result, cells that line the
passageways of the lungs, pancreas,
and other organs produce mucus that
is unusually thick and sticky. This
mucus clogs the airways and glands,
causing the characteristic signs and
symptoms of cystic fibrosis.
Other genetic and environmental
factors likely influence the
severity of the condition. For
example, mutations in genes other
than CFTR might help explain why
some people with cystic fibrosis are
more severely affected than others.
Most of these genetic changes have
not been identified, however.
Read more about the
CFTR gene.
How do people inherit cystic fibrosis?
This condition is inherited in an
autosomal recessive pattern, which
means both copies of the gene in
each cell have mutations. Most
often, the parents of an individual
with an autosomal recessive
condition each carry one copy of the
mutated gene, but do not show signs
and symptoms of the condition.
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What is celiac disease?
Celiac disease is a digestive disease that damages the small
intestine and interferes with absorption of nutrients from food.
People who have celiac disease cannot tolerate a protein called
gluten, found in wheat, rye, and barley. Gluten is found mainly in
foods but may also be found in products we use every day, such as
stamp and envelope adhesive, medicines, and vitamins.

The small intestine is shaded above.
When people with celiac disease eat foods or use products containing
gluten, their immune system responds by damaging the small
intestine. The tiny, fingerlike protrusions lining the small
intestine are damaged or destroyed. Called villi, they normally
allow nutrients from food to be absorbed into the bloodstream.
Without healthy villi, a person becomes malnourished, regardless of
the quantity of food eaten.

Villi on the lining of the small intestine help absorb nutrients.
Because the body’s own immune system causes the damage, celiac
disease is considered an autoimmune disorder. However, it is also
classified as a disease of malabsorption because nutrients are not
absorbed. Celiac disease is also known as celiac sprue, nontropical
sprue, and gluten-sensitive enteropathy.
Celiac disease is a genetic disease, meaning it runs in families.
Sometimes the disease is triggered—or becomes active for the first
time—after surgery, pregnancy, childbirth, viral infection, or
severe emotional stress.
What are the symptoms of celiac disease?
Celiac disease affects people differently. Symptoms may occur in the
digestive system, or in other parts of the body. For example, one
person might have diarrhea and abdominal pain, while another person
may be irritable or depressed. In fact, irritability is one of the
most common symptoms in children.
Symptoms of celiac disease may include one or more of the following:
gas
recurring abdominal bloating and pain
chronic diarrhea
constipation
pale, foul-smelling, or fatty stool
weight loss/weight gain
fatigue
unexplained anemia (a low count of red blood cells causing fatigue)
bone or joint pain
osteoporosis, osteopenia
behavioral changes
tingling numbness in the legs (from nerve damage)
muscle cramps
seizures
missed menstrual periods (often because of excessive weight loss)
infertility, recurrent miscarriage
delayed growth
failure to thrive in infants
pale sores inside the mouth, called aphthous ulcers
tooth discoloration or loss of enamel
itchy skin rash called dermatitis herpetiformis
A person with celiac disease may have no symptoms. People without
symptoms are still at risk for the complications of celiac disease,
including malnutrition. The longer a person goes undiagnosed and
untreated, the greater the chance of developing malnutrition and
other complications. Anemia, delayed growth, and weight loss are
signs of malnutrition: The body is just not getting enough
nutrients. Malnutrition is a serious problem for children because
they need adequate nutrition to develop properly. (See
Complications.)
Why are celiac disease symptoms so varied?
Researchers are studying the reasons celiac disease affects people
differently. Some people develop symptoms as children, others as
adults. Some people with celiac disease may not have symptoms, while
others may not know their symptoms are from celiac disease. The
undamaged part of their small intestine may not be able to absorb
enough nutrients to prevent symptoms.
The length of time a person is breastfed, the age a person started
eating gluten-containing foods, and the amount of gluten-containing
foods one eats are three factors thought to play a role in when and
how celiac disease appears. Some studies have shown, for example,
that the longer a person was breastfed, the later the symptoms of
celiac disease appear and the more uncommon the symptoms.
How is celiac disease diagnosed?
Recognizing celiac disease can be difficult because some of its
symptoms are similar to those of other diseases. In fact, sometimes
celiac disease is confused with irritable bowel syndrome,
iron-deficiency anemia caused by menstrual blood loss, Crohn’s
disease, diverticulitis, intestinal infections, and chronic fatigue
syndrome. As a result, celiac disease is commonly underdiagnosed or
misdiagnosed.
Recently, researchers discovered that people with celiac disease
have higher than normal levels of certain autoantibodies in their
blood. Antibodies are protective proteins produced by the immune
system in response to substances that the body perceives to be
threatening. Autoantibodies are proteins that react against the
body’s own molecules or tissues. To diagnose celiac disease,
physicians will usually test blood to measure levels of
Immunoglobulin A (IgA)
anti-tissue transglutaminase (tTGA)
IgA anti-endomysium antibodies (AEA)
Before being tested, one should continue to eat a regular diet that
includes foods with gluten, such as breads and pastas. If a person
stops eating foods with gluten before being tested, the results may
be negative for celiac disease even if celiac disease is actually
present.
If the tests and symptoms suggest celiac disease, the doctor will
perform a small bowel biopsy. During the biopsy, the doctor removes
a tiny piece of tissue from the small intestine to check for damage
to the villi. To obtain the tissue sample, the doctor eases a long,
thin tube called an endoscope through the mouth and stomach into the
small intestine. Using instruments passed through the endoscope, the
doctor then takes the sample.
Screening
Screening for celiac disease involves testing for the presence of
antibodies in the blood in people without symptoms. Americans are
not routinely screened for celiac disease. Testing for
celiac-related antibodies in children less than 5 years old may not
be reliable. However, since celiac disease is hereditary, family
members, particularly first-degree relatives—meaning parents,
siblings, or children of people who have been diagnosed—may wish to
be tested for the disease. About 5 to 15 percent of an affected
person’s first-degree relatives will also have the disease. About 3
to 8 percent of people with type 1 diabetes will have
biopsy-confirmed celiac disease, and 5 to 10 percent of people with
Down syndrome will be diagnosed with celiac disease.
What is the treatment?
The only treatment for celiac disease is to follow a gluten-free
diet. When a person is first diagnosed with celiac disease, the
doctor usually will ask the person to work with a dietitian on a
gluten-free diet plan. A dietitian is a health care professional who
specializes in food and nutrition. Someone with celiac disease can
learn from a dietitian how to read ingredient lists and identify
foods that contain gluten in order to make informed decisions at the
grocery store and when eating out.
For most people, following this diet will stop symptoms, heal
existing intestinal damage, and prevent further damage. Improvements
begin within days of starting the diet. The small intestine is
usually completely healed in 3 to 6 months in children and younger
adults and within 2 years for older adults. Healed means a person
now has villi that can absorb nutrients from food into the
bloodstream.
In order to stay well, people with celiac disease must avoid gluten
for the rest of their lives. Eating any gluten, no matter how small
an amount, can damage the small intestine. The damage will occur in
anyone with the disease, including people without noticeable
symptoms. Depending on a person’s age at diagnosis, some problems
will not improve, such as delayed growth and tooth discoloration.
Some people with celiac disease show no improvement on the
gluten-free diet. This condition is called unresponsive celiac
disease. The most common reason for poor response is that small
amounts of gluten are still present in the diet. Advice from a
dietitian who is skilled in educating patients about the gluten-free
diet is essential to achieve the best results.
Rarely, the intestinal injury will continue despite a strictly
gluten-free diet. People in this situation have severely damaged
intestines that cannot heal. Because their intestines are not
absorbing enough nutrients, they may need to receive nutrients
directly into their bloodstream through a vein, or intravenously.
People with this condition may need to be evaluated for
complications of the disease. Researchers are now evaluating drug
treatments for unresponsive celiac disease.
The web contains information about celiac disease, some of which is
not accurate. The best people for advice about diagnosing and
treating celiac disease are one’s doctor and dietitian.
The Gluten-free Diet
A gluten-free diet means not eating foods that contain wheat
(including spelt, triticale, and kamut), rye, and barley. The foods
and products made from these grains are also not allowed. In other
words, a person with celiac disease should not eat most grain,
pasta, cereal, and many processed foods. Despite these restrictions,
people with celiac disease can eat a well-balanced diet with a
variety of foods, including gluten-free bread and pasta. For
example, people with celiac disease can use potato, rice, soy,
amaranth, quinoa, buckwheat, or bean flour instead of wheat flour.
They can buy gluten-free bread, pasta, and other products from
stores that carry organic foods, or order products from special food
companies. Gluten-free products are increasingly available from
regular stores.
Checking labels for “gluten free” is important since many corn and
rice products are produced in factories that also manufacture wheat
products. Hidden sources of gluten include additives such as
modified food starch, preservatives, and stabilizers. Wheat and
wheat products are often used as thickeners, stabilizers, and
texture enhancers in foods.
“Plain” meat, fish, rice, fruits, and vegetables do not contain
gluten, so people with celiac disease can eat as much of these foods
as they like. Recommending that people with celiac disease avoid
oats is controversial because some people have been able to eat oats
without having symptoms. Scientists are currently studying whether
people with celiac disease can tolerate oats. Until the studies are
complete, people with celiac disease should follow their physician’s
or dietitian’s advice about eating oats. Examples of foods that are
safe to eat and those that are not are provided in the table below.
The gluten-free diet is challenging. It requires a completely new
approach to eating that affects a person’s entire life. Newly
diagnosed people and their families may find support groups to be
particularly helpful as they learn to adjust to a new way of life.
People with celiac disease have to be extremely careful about what
they buy for lunch at school or work, what they purchase at the
grocery store, what they eat at restaurants or parties, or what they
grab for a snack. Eating out can be a challenge. If a person with
celiac disease is in doubt about a menu item, ask the waiter or chef
about ingredients and preparation, or if a gluten-free menu is
available.
Gluten is also used in some medications. One should check with the
pharmacist to learn whether medications used contain gluten. Since
gluten is also sometimes used as an additive in unexpected products,
it is important to read all labels. If the ingredients are not
listed on the product label, the manufacturer of the product should
provide the list upon request. With practice, screening for gluten
becomes second nature.
The Gluten-free Diet: Some Examples
In 2006, the American Dietetic Association updated its
recommendations for a gluten-free diet. The following chart is based
on the 2006 recommendations. This list is not complete, so people
with celiac disease should discuss gluten-free food choices with a
dietitian or physician who specializes in celiac disease. People
with celiac disease should always read food ingredient lists
carefully to make sure that the food does not contain gluten.
Allowed Foods
Amaranth
Arrowroot
Buckwheat
Cassava
Corn
Flax
Indian rice grass Job’s tears
Legumes
Millet
Nuts
Potatoes
Quinoa
Rice Sago
Seeds
Soy
Sorghum
Tapioca
Wild Rice
Yucca
Foods To Avoid
Wheat
Including einkorn, emmer, spelt, kamut
Wheat starch, wheat bran, wheat germ, cracked wheat, hydrolyzed
wheat protein
Barley
Rye
Triticale (a cross between wheat and rye)
Other Wheat Products
Bromated flour
Durum flour
Enriched flour
Farina Graham flour
Phosphated flour
Plain flour Self-rising flour
Semolina
White flour
Processed Foods That May Contain Wheat, Barley, or Rye*
Bouillon cubes
Brown rice syrup
Chips/potato chips
Candy
Cold cuts, hot dogs, salami, sausage
Communion wafer French fries
Gravy
Imitation fish
Matzo
Rice mixes
Sauces Seasoned tortilla chips
Self-basting turkey
Soups
Soy sauce
Vegetables in sauce
* Most of these foods can be found gluten-free. When in doubt, check
with the food manufacturer.
From the following resource: Thompson T. Celiac Disease Nutrition
Guide, 2nd ed. Chicago: American Dietetic Association; 2006. ©
American Dietetic Association. Adapted with permission. For a
complete copy of the Celiac Disease Nutrition Guide, please visit
www.eatright.org.
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What are the complications of celiac disease?
Damage to the small intestine and the resulting nutrient absorption
problems put a person with celiac disease at risk for malnutrition,
anemia, and several other diseases and health problems.
Lymphoma and adenocarcinoma are cancers that can develop in the
intestine.
Osteoporosis is a condition in which the bones become weak, brittle,
and prone to breaking. Poor calcium absorption contributes to
osteoporosis.
Miscarriage and congenital malformation of the baby, such as neural
tube defects, are risks for pregnant women with untreated celiac
disease because of nutrient absorption problems.
Short stature refers to being significantly under the average
height. Short stature results when childhood celiac disease prevents
nutrient absorption during the years when nutrition is critical to a
child’s normal growth and development. Children who are diagnosed
and treated before their growth stops may have a catch-up period.
How common is celiac disease?
Data on the prevalence of celiac disease is spotty. In Italy about 1
in 250 people, and in Ireland about 1 in 300 people, have celiac
disease. Recent studies have shown that it may be more common in
Africa, South America, and Asia than previously believed.
Until recently, celiac disease was thought to be uncommon in the
United States. However, studies have shown that celiac disease is
very common. Recent findings estimate about 2 million people in the
United States have celiac disease, or about 1 in 133 people. Among
people who have a first-degree relative diagnosed with celiac
disease, as many as 1 in 22 people may have the disease.
Celiac disease could be underdiagnosed in the United States for a
number of reasons including:
Celiac symptoms can be attributed to other problems.
Many doctors and health care providers are not knowledgeable about
the disease.
Only a small number of U.S. laboratories are experienced and skilled
in testing for celiac disease.
More research is needed to learn the true prevalence of celiac
disease among Americans.
Diseases Linked to Celiac Disease
People with celiac disease tend to have other autoimmune diseases.
The connection between celiac disease and these diseases may be
genetic. These diseases include
thyroid disease
systemic lupus erythematosus
type 1 diabetes
liver disease
collagen vascular disease
rheumatoid arthritis
Sjögren’s syndrome
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Dermatitis Herpetiformis
Dermatitis herpetiformis (DH) is a severe, itchy, blistering skin
manifestation of celiac disease. Not all people with celiac disease
develop dermatitis herpetiformis. The rash usually occurs on the
elbows, knees, and buttocks. Unlike other forms of celiac disease,
the range of intestinal abnormalities in DH is highly variable, from
minimal to severe. Only about 20 percent of people with DH have
intestinal symptoms of celiac disease.
To diagnose DH, the doctor will test the person’s blood for
autoantibodies related to celiac disease and will biopsy the
person’s skin. If the antibody tests are positive and the skin
biopsy has the typical findings of DH, patients do not need to have
an intestinal biopsy. Both the skin disease and the intestinal
disease respond to a gluten-free diet and recur if gluten is added
back into the diet. In addition, the rash symptoms can be controlled
with medications such as dapsone (4’,4’diamino-diphenylsuphone).
However, dapsone does not treat the intestinal condition and people
with DH should also maintain a gluten-free diet.
Hope through Research
The National Institute of Diabetes and Digestive and Kidney Diseases
(NIDDK) conducts and supports research on celiac disease. NIDDK-supported
researchers are studying the genetic and environmental causes of
celiac disease. In addition, researchers are studying the substances
found in gluten that are believed to be responsible for the
destruction of the immune system function, as happens in celiac
disease. They are engineering enzymes designed to destroy these
immunotoxic peptides. Researchers are also developing educational
materials for standardized medical training to raise awareness among
healthcare providers. The hope is that increased understanding and
awareness will lead to earlier diagnosis and treatment of celiac
disease.
Points to Remember
People with celiac disease cannot tolerate gluten, a protein in
wheat, rye, barley, and possibly oats.
Untreated celiac disease damages the small intestine and interferes
with nutrient absorption.
Without treatment, people with celiac disease can develop
complications like cancer, osteoporosis, anemia, and seizures.
A person with celiac disease may or may not have symptoms.
Diagnosis involves blood tests and a biopsy of the small intestine.
Since celiac disease is hereditary, family members of a person with
celiac disease may wish to be tested.
Celiac disease is treated by eliminating all gluten from the diet.
The gluten-free diet is a lifetime requirement.
A dietitian can teach a person with celiac disease food selection,
label reading, and other strategies to help manage the disease. |
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