12/31/2010 02:14 PM
Celiac Disease

Celiac Disease is a genetic disorder that we know affects at least 1 in 133 Americans - although most experts believe that the figure is very much higher than this.  Additionally, it's estimated that up to 15% of the world's population has a gluten intolerance/allergy. That's over a billion people on the planet  who can't tolerate gluten (wheat, rye, barley).  Those affected suffer damage to the villi (shortening and villous flattening) in the lamina propria and crypt regions of their intestines when they eat specific food-grain antigens (toxic amino acid sequences) that are found in wheat, rye, and barley.        

Treatment of Celiac Disease means that the patient thas to adopt a gluten free lifestyle - they must avoid wheat, rye and barley for the rest of their lives.  (Oats can sometimes be an issue also because in the US they are milled with wheat and cross-contamination occurs.)  If left untreated, progressive damage will take place to the digestive system and celiac patients who do not give up gluten are 40-100 times more likely to develop gastrointestinal cancer.

Celiac Disease is a very difficult disease to diagnose as it oftens provides a negative result when patients are given a blood test.  Also, there is such a broad range of symptoms that it can often be diagnosed as something different.  And, often, no two patients' symptoms are the same.  Here's a long list of  the potential symptoms:

Lassitude (a term describing a feeling of tiredness, weakness or exhaustion)
Inanition (exhaustion, as from lack of nourishment)
Fatigue (often chronic)
Fuzzy-mindedness after gluten ingestion
Dental enamel defects (lots of dental cavities due to weak enamel)
General malnutrition with or without weightloss
Any problem associated with vitamin deficiencies
Lactose intolerance
Burning sensation in the throat
Abdominal pain and bloating
Borborygmi (audible bowel sounds)
Abdominal distention
Steatorrhea (fatty stools that float rather than sink)
Foul smelling stools
Bulky, greasy stools
Anemia (iron deficiency)
Hemorrhagic diathesis (bleeding disorder)
Osteoporosis/osteopenia (bone loss or thinning)
Bone pain (especially nocturnal)
White flecks on fingernails
Short stature (due to slow growth)
Rheumatoid arthritis
Arthralgia (pain in the joints)
Tetany (spasms and twitching of the muscles)
Parasthesia (abnormal or impaired skin sensation including burning, prickling, itching, or tingling)
Amenorrhea (absence of menstrual bleeding)
Delayed puberty
Cheilosis (inflammation, cracking and dryness of the lips)
*Angular cheilosis (specifically cracking in the corners of the lips)
Glossitis (swollen tongue)
Stomatitis (any form of inflammation or ulceration of the mouth, such as mouth ulcers, cold sores, thrush, etc.)
Purpura (purple or red spots on your skin caused by bleeding under the skin, more common in elderly)
Follicular hyperkeratosis (corns, calluses, plantar warts, psoriasis, nail fungus)
Atopic dermatitis (a tendency towards allergies and a predisposition to various allergic reactions)
*Scaly dermatitis (inflammation of the skin, includes dandruff and topical allergic reactions)
Hyperpigmented dermatitis (can't find the definition, must have something to do with the color of the rash?)
Alopecia areata (loss or absence of hair, leaving the skin looking and feeling normal)
Edema (accumulation of serum-like fluid in the body tissues)
Ascites (accumulation of fluid in the peritoneal cavity-the space between the abdominal wall and the organs)
Selective IgA deficiency
Seizures, with or without occipital calcification
Hepatitis (inflammation of the liver, may be acute or chronic)
Dermatitis herpetiformis (skin rash characterized as intensely itchy skin eruptions like red bumps and blisters. Burning, stinging and itching is very bad. It appears in groups around the body, most often on the head, elbows, knees, and buttocks, much like the lesions of Herpes which is why the name is herpetiformis-meaning "like herpes". Must be diagnosed by a doctor. Only occurs in celiac patients.)
Liver disease
Xerophthalmia (an eye disorder which causes the conjunctiva and cornea to become abnormally dry)
Night blindness (inability to see well in dim light)
Thyroid disease
Unexplained neuropathic illnesses, including ataxia and peripheral neuropathy
*Peripheral neuropathy (disease, inflammation and damage to the peripheral nerves, which connect the central nervous system to the sense organs, muscles, glands, and internal organs. Damage to sensory nerves may cause numbness, tingling, sensations of cold, or pain, often starting at the hands or feet and moving toward the body center. Damage to the nerves of the autonomic nervous system may lead to blurred vision, impaired or absent sweating, headaches, episodes of faintness associated with falls in blood pressure, disturbance of gastric, intestinal, bladder or sexual functioning, including incontinence and impotence. In some cases there is no obvious or detectable cause)
*Ataxia (incoordination and clumsiness, affecting balance and gait, limb or eye movements and/or speech, making one appear as if they were drunk)
Diabetes mellitus type 1
Sjogren's syndrome (eyes, mouth, and vagina become extremely dry)
Collagen disorders
Down syndrome
IgA neuropathy
Fibrosing alveolitis of the lung (body produces antibodies against its own lung tissue, creates a dry cough and breathing difficulty upon exertion)
Hyposplenism, with atrophy of the spleen (underactive spleen)
Pancreatitis (inflammation of the pancreas)
Lymphoma (any group of cancers in which the cells of the lymphoid tissue multiply unchecked)
Leukopenia (abnormal decrease in white blood cells, often reducing immune system function)
Coagulopathy (blood clotting disorder)
Thrombocytosis (low blood platelets/damaged platelets, causing large amounts of bruises due to uncontrolled bleeding under the skin)
Melanosis (black or brown discoloration of the colon, usually due to chronic constipation)
Erythema nodosum (red-purple swellings on the legs and sometimes arms, with fever and joint pain)

In children:
Failure to thrive
Inability to concentrate
Emotional withdrawal or excessive dependence
Pale, malodorous, bulky stools
Frequent, foamy diarrhea
Wasted buttocks
*With protuberant abdomen (with or without painful bloating)
*Muscle wasting of buttocks, thighs, and proximal arms
*With or without diarrhea
(as well as any number of the above diseases and disorders)

If you suspect you have Celiac Disease our recommendation is to find a good doctor who understands this condition.  Remember, regular blood tests or skin allergy tests often will not give a conclusive answer.  Genetic testing is showing itself to be an accurate method of testing.  More than 97% of people with Celiac Disease share the same genetic markers called HLA-DQ2 and HLA-DQ8.Checking for these markers is useful in determining risk for Celiac Disease.

It is useful to test blood for the HLA-DQ2 and HLA-DQ8 genetic markers in the following people:

  • Relatives of diagnosed people with Celiac Disease.
  • People with negative blood tests who exhibit manifestations of Celiac Disease.
  • People with ambiguous biopsy results.
  • People who started a gluten-free diet before diagnostic testing.

There are many great websites to help you deal with this condition.  Here are links to Celiac.com and the Celiac Sprue Association:



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