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Showing results for tags 'misdiagnosed'.
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Celiac.com 04/25/2022 - Even with numerous advances in celiac disease awareness and testing outreach, the path to diagnosis remains difficult for many patients, and misdiagnosis is still not uncommon. In general, celiac disease remains an under-diagnosed condition. A team of researchers recently set out to investigate possible biochemical abnormalities associated with celiac disease antibody positivity in a primary health care setting and thereby identify predictors that could potentially reduce diagnostic delay and under-diagnosis of celiac disease. The research team included Line Lund Kårhus, Margit Kriegbaum, Mia Klinten Grand, Bent Struer Lind, Line Tang Møllehave, Jüri J. Rumessen, Christen Lykkegaard Andersen and Allan Linneberg. For their observational cohort study, the team included measurements of celiac disease antibodies in the Copenhagen Primary Care Laboratory (CopLab) database from 2000 to 2015. They defined celiac disease antibody positivity as tissue transglutaminase antibody IgA or IgG ≥ 7 kU/L and/or deamidated gliadin peptide antibody IgG at or above 10 kU/L. The study excluded those with a prior celiac diagnosis. The team looked at variations in results between patients with positive and negative celiac disease antibody tests for biochemical tests conducted six months before and one month after the patient's celiac disease antibody test. The team found 76,265 records of celiac disease antibodies during 2000–2015. Of the 57,061 individuals who met the inclusion criteria, 706 antibody-positive and 56,355 antibody-negative. In people with a positive celiac disease antibody test, the team found lower ferritin, hemoglobin, cobalamin and folic acid levels and higher levels of transferrin, ALAT (alanine transaminase), and alkaline phosphate. Moreover, they showed more measurements below the sex-specific reference intervals for hemoglobin, mean corpuscular volume (MCV), mean corpuscular hemoglobin concentration (MCHC), ferritin, cobalamin and folic acid among individuals with a positive celiac disease antibody test. This study found a number of biochemical abnormalities tied to celiac disease antibody positivity in patients referred for celiac disease antibody testing. The pattern of abnormalities indicate that micronutrient deficiencies are common among people who are celiac disease antibody-positive, and confirm malabsorption as a sign of celiac disease. The team's findings show the potential of reducing diagnostic delay and under-diagnosis of celiac disease. Read more in Nature.com The researchers are variously affiliated with the Center for Clinical Research and Prevention, Copenhagen University Hospital – Bispebjerg and Frederiksberg, Frederiksberg, Copenhagen, Denmark; the Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark; the Copenhagen Primary Care Laboratory (CopLab) Database, Research Unit for General Practice and Section of General Practice, Department of Public Health, University of Copenhagen, Copenhagen, Denmark; the Department of Clinical Biochemistry, Copenhagen University Hospital Hvidovre, Hvidovre, Denmark; the Center for Clinical Research and Prevention, Copenhagen University Hospital – Bispebjerg and Frederiksberg, Frederiksberg, Copenhagen, Denmark; the Department of Gastroenterology, Copenhagen University Hospital - Herlev and Gentofte, Copenhagen, Denmark; and the Department of Hematology, Rigshospitalet, Copenhagen, Denmark.
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Under my Doctor's Nose—But Diagnosis Missed
Dr. Rodney Ford M.D. posted an article in Winter 2008 Issue
Celiac.com 01/16/2021 - Oh dear! This week I met three parents in my clinic who are quite annoyed. Perhaps infuriated is more accurate. All three families have a child who has been unwell for years. All three children had blood tests done over the last two years by another pediatrician—these tests showed high levels of gluten antibodies (a high IgG-gliadin level) which was ignored. Anna is nine years old. She is now gluten-free and is better: she sleeps all night, has no tummy pains, has more energy and she is enjoying life again. She is strictly gluten-free. Even small amounts of gluten upset her tummy. She says "I feel good!" Previously, she had tummy pains since two years of age. However, over the last few months everything got worse with very bad tummy pains and more diarrhea. Two years ago she had a blood test which showed high gluten antibodies—IgG gliadin 72 (usually less than 20 units). But this result was ignored by her pediatrician. When I saw Anna I repeated her blood tests: she had persistently high gluten antibodies (IgG gliadin 60) but no evidence of celiac disease (a normal tTG). Her parents, with a sense of irritation said: "Obviously, her diagnosis under the nose of our previous doctor, so why did he miss it? Why didn't he suggest going on a gluten-free diet at that stage? It would have stopped Anna having another two years of suffering! How frustrating! Why don't more doctors know about this diagnosis?" Emma I unscrambled Emma's illness recently. She is eight years old. Emma's mum sent me this thank you card: "Dear Dr Ford, We just want to say a BIG THANK YOU for all you have done for us! Emma has been pain free from her gluten free diet! All of us are now gluten-free and we feel more energized and happier in our tummies! Your information has also helped some of my friends! Keep going and informing people about this important information. Thank you so, so much. PS: Hopefully we won't have to see you again!" Emma had been seen by another pediatrician two years ago who did blood tests showing very high IgG-gliadin antibodies at 91 units (should be less than 20) a normal tTG, and the genes associated with celiac disease (DQ2/DQ8) were not detected. My repeat tests showed that her gluten antibodies were still very high (IgG-gliadin 86). She showed a dramatic response to the gluten-free diet. Her tummy pains and lethargy melted away. She is now a happy, vibrant eight-year-old, and with grateful parents. Dan Perhaps Dan's story is the saddest. He is now 12 years old. He has had constipation and leaky poos for more than five years. He smells. He is embarrassed that he has accidents in his pants. School is difficult. His parents are exasperated that Dan seems to have no control of his bowels. Dan is depressed and anxious about his terrible situation. Yet again he was assessed by another pediatrician a few years ago. His gluten antibodies were sky high (IgG-gliadin of 94) but ignored because he had no evidence of celiac disease. Dan had to go through a lot of "behavior modification" therapy, but with no benefit—it only made him more anxious and withdrawn. Yes, you guessed it. His repeat blood tests confirmed a gluten problem. And yes, within a few weeks of going gluten-free he is now in control of his bowels—at long last. He can now give me a smile. He has the gluten syndrome and has suffered years of unnecessary pain and embarrassment. His parents had labeled him as lazy, naughty and manipulative. He was being lined up for some more psychotherapy. Oh Dear! Please help these children! I often feel moments of sadness and frustration in my clinic. I hear similar stories every day. I see parents crying with relief that the answer has, at last, been found. I also see families who are angry. A gluten-free remedy is so simple and benign, yet it has not been suggested despite elevated IgG gliadin antibodies. This complacently and blindness causes unnecessary suffering. Many of my medical colleagues continue to ignore gluten sensitivity. They are in denial. They attribute the response to a gluten-free diet to a placebo effect. They undermine their patients through telling them to go back to eating gluten because they do not have celiac disease. The way forward is for the gluten-free community to keep spreading the word: that gluten can cause a great deal of harm to many people and it needs to be considered as a front line diagnosis. The good news is that this year some researchers in the big Celiac Foundations and Celiac Research Institutes in the USA are starting to research gluten-sensitivity. At last Gluten Syndrome is being taken seriously. We need to help all of the Annas, Emmas and Dans of this world. If you have any comments or questions I would love to hear from you through our- 1 comment
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I was diagnosed with Severe Celiacs last November plus 2 forms of glaucoma and recently degenerative arthritis. I'm only 22 and finding all this out is exhausting and stressful, well recently I decided to take a break from the gluten free diet and ordered a stuffed crust pizza from pizza hut, a few things from taco bell and a buffet at golden corral! And I have not gotten sick! Maybe I rash but the rash was there before hand, now I'm concerned my doctor was wrong and misdiagnosed me somehow? Before I started the gluten diet I was severely sick, throwing up and couldn't eat, I thought I had cancer, can someone help idk who else to go to, is this normal? Getting sick and then not getting sick? Oh and the rash has been there for weeks doctor has no idea what it is gonna see specialist, auto immune diseases are in family, I did have pelvic inflammatory disease could that of caused something?
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Celiac.com 05/19/2017 - Did you know that now, according to Beyond Celiac 83% of those with celiac disease are misdiagnosed or undiagnosed? Did you know that the average time a person waits to be correctly diagnosed, according to Daniel Lefler, M.D., M.S, of the Celiac Center at Beth Israel Deaconness Medical Center is still six to 10 years? This has changed little in the past 10 years, even though celiac disease can lead to a number of other disorders including infertility, reduced bone density, neurological disorders, some cancers, and other autoimmune diseases. Over a four year period, people with undiagnosed celiac disease cost an average of $3,964 more than the healthy individuals (Source: Long et al, 2010. Did you know that 5 - 22% of people with celiac disease have an immediate family member (first degree relative who also has celiac disease, and that there isn't yet a pharmaceutical treatment or cure for it? In 2009 WebMD reported that, in the USA, celiac disease has quadrupled over the last 50 years, yet many people who have the disease remain undiagnosed. Still Dr. Stefano Guandalini, N.D. Director of the Celiac Disease Center at the University of Chicago told WebMD, "Many of these people have no symptoms, but many do have symptoms that are not recognized for what they are. We believe that only five percent of people with celiac disease know they have it". Is there any wonder that a woman at the dietician's office at our local hospital where I sometimes volunteer did not know she had celiac disease? This is because she was only experiencing symptoms of joint and muscle pains, abdominal pain and laboratory tests only showed anemia. She was first referred to an orthopedic specialist, then an internist, and neither checked for celiac disease or questioned her further. "Hello!!" Are there still general practitioners out there who are not aware that there is a blood test for celiac disease? Some people experience symptoms found in celiac disease such as a "brain fog," depression, ADHD like behavior, abdominal pain, bloating, diarrhea, constipation, headaches, bone or joint pain, and chronic fatigue when they have gluten in their diet, yet do not test positive for celiac disease. The terms non-celiac gluten sensitivity (NCGS) and non-celiac wheat sensitivity (NCWS) are generally used to refer to this condition. When removing gluten from their diet it removes symptoms. At my first biopsy of the bowel the gastroenterologist failed to biopsy the jejunum. My blood test was positive, the biopsy of the dermatitis herpetiformis proved positive too, and it wasn't until I insisted on a second biopsy of my jejunum that I was diagnosed. If I had not been persistent, I would have given up after the first biopsy and continued itching and ingesting gluten. Persistence, or stubborn determination (i.e. knowing my own body) paid off, but it took a year for the dermatitis herpetiformis to totally rescind, most particularly the sores on my scalp. You know your own body better than anyone; you know when something is wrong. If your grocery store fails to give you good service you go elsewhere. The Celiac Disease Foundation, both in Canada and the United States, can help you find the right doctor to discuss your symptoms so you can get diagnosed and treated. Shop and find your own healthcare practitioner. Do not allow a doctor tell you that you are neurotic, perimenopausal, or their favorite: "stressed." Since there are more than 200 known celiac disease symptoms which may occur in the digestive system or other parts of the body, and some people develop celiac disease as a child, others as an adult, you owe it to yourself to keep checking and researching and reading magazines like Celiac.com's Journal of Gluten Sensitivity, because, according to the Mayo Clinic, there is no cure for celiac disease. The American Journal of Gastroenterology, at ScienceDirect.com, offers a nationwide view of celiac disease, and conducted two randomized trials that tested strategies of early or delayed gluten introduction in infants, and neither strategy appeared to influence the risk for celiac disease. They also indicated that breastfeeding did not protect against celiac disease. "While disappointing, these results should spur the study of wider environmental risk factors beyond infant feeding, such as intrauterine and perinatal exposure as well as environmental influences later in life, including drug exposure, microbial infections, and the mictobionme. Given that celiac disease can develop at any age, it is imperative to study these proposed triggers so as to elucidate the loss of tolerance to gluten and to develop future intervention strategies." At the start of the Gastroenterology study, between 2000 and 2001 - 11.1 out of every 100,000 people had celiac disease. Toward the end of the study - between 2008 and 2010 it was up to 17.3 out of every 100,000 people. However, researchers noted that the incidence of celiac disease plateaued after 2004. It is no big surprise that they believe, according to Dr. Stefano Guandalini, M.D. "that only about 5 percent of people with celiac disease know they have it." Web MD reported that "Celiac Disease had quadrupled." Many physicians I approached whilst completing this survey indicated it was physician knowledge of the signs and symptoms of celiac disease that has caused a greater increase in celiac testing and the use of a simple blood test (tTG-IgA). The Tissue Transglutaminase Antibodies test will be positive in about 98% of patients with celiac disease who are on a gluten-containing diet. The same test will come back negative in about 98% of healthy people without celiac disease. Although rare, patients with celiac disease could have a negative antibody test result. There is also a slight risk of a false positive test result, especially for people with associated autoimmune disorders like Type 1 Diabetes, autoimmune liver disease, Hashimoto's thyroiditis, psoriatic or rheumatoid arthritis, and heart failure. This test is not good for someone who has been following a gluten-fre diet on their own. A biopsy of the small intestine is still considered the only way to diagnose celiac disease by many doctors. Many parents are reluctant to submit their young child to a biopsy of the Jejeunum and have used only blood tests, including the IgA Endomysial antibody (EMA). This test has a specificity of almost 100% but it is not as sensitive as the tTG-IGA test, because about 10% of people with celiac disease do not have a positive EMA test. Also, it is VERY expensive in comparison to the tTG-IgA and it requires the use of primate esophagus or human umbilical cord, so it is usually reserved for difficult to diagnose patients. The Total Serum IgA is used to test for IgA deficiency, a condition associated with celiac disease that can cause a false negative tTC-IgA or EMA result. If you are IgA deficient, our doctor can order a DGP or tTg-IgC. The decimated gliadin peptide (DGP-IgA and IgG) is a test that can be used to further screen for celiac disease in individuals with IgA deficiency or people who test negative for tTg or EMA antibodies. Even though it is very rare, it is possible for someone with celiac disease to have negative antibody test results. So please do not become discouraged even with negative results, if you are still experiencing symptoms talk with your physician and undergo further medical evaluation. Keep in mind that some of these tests are not medically covered by insurance. Did you know that you can get genetic testing for celiac disease? People with celiac disease carry one or both of the HLA DQ2 and DQ8 genes. So do up to 25 - 30% of all people. Carrying HLA DQ2 and/or DQ8 is not a diagnosis of celiac disease, nor does it mean you will ever develop celiac disease. However, if you carry HLA DQ2 and/or DQ8 your risk of developing celiac disease is 3% instead of the general population risk of 1%. Since celiac disease is genetic this means it runs in families. First degree family members (parents, siblings, children) who have the same genotype as the family member with celiac disease, have up to a 40% risk of developing celiac disease. The overall risk of developing celiac diseases when the genotype is unknown is 7% to 20%, which is a big difference! We cannot blame ALL physicians for the lack of a correct diagnosis. It is one of the most puzzling, multi-faceted diseases, and a patient going into their family physician's office may have very vague symptoms. Thousands of dollars may be spent on blood tests, referrals to specialists, x-rays, and scans before a diagnosis is found. There is nothing more deflating or frustrating to someone who has a myriad of legitimate symptoms than to be told that they are either depressed, stressed or suffering from an overactive imagination. Sources: The American Journal of Gastroenterology https://celiac.org http://www.beyondceliac.org
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Celiac.com 12/12/2008 - The tales of diagnois for celiac disease are almost alwaysdramatic: Some people go for years dealing with aches and pains and thinkingthat this is just the way their body was built. I remember feeling that way when my one-year-old was so crabby—walkingaround with her big old “Buddha” belly. Recently, I requested the top threesymptoms from adult and child celiacs to put together a survey of the topsymptoms on my blog. I didn’t ask forthe diagnosis stories, but people offered some insight into the trials andtribulations of getting diagnosed with celiac disease—and eventually leadinga new and healthier life! It took a major virus, three doctors, x-rays, blood tests toget to Emma’s diagnosis.One doctor toldme “kids throw up” (once every nine days? Really?), a second opinionrecommended Milicon for her “gassy” tummy. Luckily, it all ended the way it should have, with a diagnosis of celiacdisease that only took about 5 months—which is relatively little compared tosome of the stories you’re about to hear. One woman wrote me describing her daughter’s symptoms whenshe was diagnosed at age 15, but then she wrote back about the subsequentdiagnoses of her sister and mother.Jeanwas diagnosed at age 70 but she and her family tell me her severe scoliosis atage 12 was a symptom! Can you believebeing misdiagnosed for 58 years?Jean evenhad to be put in a back cast for a time. Jean’s daughter, Vicky was diagnosed with Crohn’s disease atthe age of 12—which included 3 major surgeries! Her celiac disease diagnosis didn’t comeuntil the age of 51. By then major damagehad been done to her body with the onsets of several health issues:rheumatoid and osteo arthritis, thyroiddisease, severe osteoporosis (both hips have been replaced ...one twice)and severe scoliosis. It turns out: three generations of women in the samefamily all started showing their symptoms in those early teen years. Kim wrote me and said she was diagnosedat 39 years old when she was hospitalized with stomach pain, vomiting anddiarrhea.But she added at the end ofher note, “ probably shouldhave gotten tested at [age] 11 when I had the same severe cramping that put mein the hospital.” The bright spot inthis story is that her eventual celiac diagnosis, led to the quicker diagnosisof her 5-year-old daughter who was just beginning her symptoms of low weightand anemia. Another contributorsaid her 14-year-old son was diagnosed with celiac two years ago, but has alsohad a kidney issue for the last 9 years.But since he has been eating gluten free…his kidneys have also gottenbetter, last report was the best since before he was brought in at age 5!! Now I wonder which really came first?”It does make you wonder. But there are somesuccess stories: One mom mentionedher son’s quick diagnosis. “[it] started with diarrhea. Thought it was a stomach bug.” Then it moved to constipation and two weekslater things still weren’t right.Thentheir doctor put two and two together, “[An]amazing pediatrician said ‘This sounds like Celiac’ and ran the bloodtests. Andrew was only ‘sick’ about 1 month before diagnosis,” shesaid. However looking back on it all, hehad a big belly and slow to grow. Others talked about having celiac disease and not even feeling sick. “I onlyfound out about the anemia through a blood test done as part of a completephysical; my general health to that point was excellent, including runningmarathons,” Danny wrote. “The only reason [my 3-year-old daughter]was diagnosed was her yearly blood draw came back positive so we had thebiopsy,” said Monica, a mom of two celiac children. Anna’s dad, Tom, was diagnosed in his 40s aftera family-round of blood testing. He isasymptomatic. The last two pointsshow how important it is to take part in preventative measures, by gettingregular blood testing done for first-degree family members. The National Institute of Diabetes, Digestiveand Kidney Diseases says, “…because celiac disease is hereditary, familymembers of a person with the disease may wish to be tested. Four to 12 percentof an affected person’s first-degree relatives will also have the disease.” The stories ofdiagnosing celiac disease may leave many of us angry, frustrated, and possiblygrateful—all at the same time. The missed diagnoses and misdiagnoses of those who have thisdisease presents a roller-coasterride of emotions. I hope this articlehelps you in knowing many others have gone through it and are likely goingthrough it as we speak.We just need tomake sure we’re spreading the word and getting as much awareness out there aspossible to help others in similar situations.
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