What Is Trichotillomania? And How Is It Treated?

Bret S. Stetka, MD; Lindsey M. Muller, MS

|April 30, 2015

Editor's Note: In her new book Life Is Trichy: Memoir of a Mental Health Therapist With a Mental Health Disorder, behavioral therapist Lindsey M. Muller, MS, writes about her own struggles with trichotillomania, a condition in which patients uncontrollably pull out their hair. The disorder is more common than you might think, and Medscape recently interviewed Ms Muller on what exactly trichotillomania is and how to manage it. 

Background

Medscape: What is trichotillomania? 

Ms Muller: According to the Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5), the symptoms of trichotillomania are:

• Recurrent pulling out of one's hair, resulting in hair loss;

• Repeated attempts to decrease or stop hair-pulling;

• The hair-pulling causes clinically significant distress or impairment in social, occupational, or other important areas of functioning;

• The hair-pulling or hair loss is not attributable to another medical condition (eg, a dermatologic condition); and

• The hair-pulling is not better explained by the symptoms of another mental disorder (eg, attempts to improve a perceived defect or flaw in appearance in body dysmorphic disorder).

Medscape: Can you briefly review the history of the condition? When was it first described, and how has understanding of it has evolved over the years?

Ms Muller: The name of the disorder was coined by French dermatologist François Hallopeau in 1889 and comes from the Greek words trich (hair), tillein (to pull), and mania (madness). However, the disorder was not formally introduced as a disorder and added to the DSM-III-R until 1987.

Classification of the disorder has been vague and questioned by many researchers and clinicians; it has been conceptualized as an obsessive-compulsive spectrum disorder, anxiety disorder, and an impulse control disorder, and most recently it appears under "Obsessive-Compulsive and Related Disorders" in DSM-5. The understanding of the disorder as sometimes present without reported feelings of anxiety and with inclusion of a sensory processing component has greatly altered how the disorder is presented in various DSM versions. From the DSM-IV-TR to the DSM-5, the following changes were made:

• Trichotillomania moved from the impulse control disorder category to the obsessive-compulsive and related disorders category;

• Criterion B, "an increasing sense of tension immediately before pulling out the hair or when attempting to resist the behavior" was removed; and

• Criterion C, "pleasure, gratification, or relief when pulling out the hair" was also removed.

Medscape: Whom does trichotillomania affect, and how widely?

Ms Muller: The lifetime prevalence of trichotillomania is estimated to be between 1% and 4% of the overall population. It is expected that this percentage is probably higher owing to the shame and stigma associated with the disorder. Even with increased research and media exposure to shed light on this disorder, many people are still unaware that there is a name for the behavior of hair-pulling.

With regard to gender distribution, the female-to-male ratio is 3 to 1. Again, this statistic is questionable, given that men may underreport symptoms because they shave to "manage" the behavior.

Causes and Treatment

Medscape: Do we know anything about what causes trichotillomania? Are there associated risk factors?

Ms Muller: The etiology of trichotillomania is still unknown. However, we do know there are various factors to consider. Neurobiological research via brain scans demonstrates the structure and functioning of persons with trichotillomania to differ from that of control participants, persons with attention-deficit/hyperactivity disorder (ADHD), persons with tic disorder, and persons with obsessive-compulsive disorder (OCD). There is a genetic component in some cases; we have identified families in which trichotillomania is diagnosed in parent and child, or siblings.

Personality traits (low tolerance to stress, perfectionism, low tolerance to anxiety) are apparent. Sensory processing, such as overstimulation or understimulation from an environmental or physical standpoint, is also relevant when discussing etiology. As in all other mental health disorders, there are exceptions. Additional areas of further research that have been reported include the relationship between pulling urges and sugar consumption, caffeine consumption, and lack of sleep.

Risk factors include family history; age (peak onset is most often between age 11 and 13 years); poor coping mechanisms for emotional regulation; premorbid mental health diagnoses, such as ADHD, OCD, tic disorder, an eating disorder, an anxiety disorder, or depressive disorder; and the personality traits mentioned above.

Medscape: How is trichotillomania treated and managed?

Ms Muller: Empirically validated treatment for trichotillomania includes cognitive-behavioral therapy (CBT) and acceptance and commitment therapy (ACT), which is the third wave of treatment approaches and a branch of CBT. ACT teaches patients to recognize, accept, and embrace urges without acting on them. Behavioral approaches, such as habit reversal, stimulus control, and awareness training, are also used and are efficacious.

Regarding medication, research is not overwhelmingly positive on prescribing medication for trichotillomania. Some patients benefit from use of a selective serotonin reuptake inhibitor in conjunction with psychotherapy, whereas others do not.

There is no cure for trichotillomania, but freedom from it is possible by recognizing the behavior, increasing awareness of the thoughts and feelings driving the urges, understanding that urges are different from behaviors, breaking the habitual cycle of pulling with behavioral interventions, increasing positive coping skills, and incorporating sensory regulation methods.

A Personal Account

Medscape: If you are comfortable doing so, can you tell us a bit about your own struggle with the condition?

Ms Muller: I started with skin-picking and nail-biting from a young age (approximately 4). Over time, these behaviors subsided, and I began pulling my hair in seventh grade until 2008 (when I was 24 years old). It was a daily and constant struggle as I tried to fight the urges day after day. Each time, I would lose the fight. The more I focused on not pulling, the more I pulled.

I tried CBT, many medications, hypnosis, and wearing something on my head at all times. Each tactic seemed to work in the beginning (the placebo effect), but the results never lasted. It was frustrating and disheartening. I felt alone, ashamed, guilty, damaged, and lost.

In 2008, I found freedom from hair-pulling when I came to understand that pulling was a choice. I could not choose whether or not I had an urge, but I could choose what to do with that urge. I waited several years until I felt enough distance and separation from my own struggle before I opened my doors to patients.

Medscape: Do you have any final thoughts for a clinician audience on how to approach this condition and discuss it with their patients?

Ms Muller: For clinicians who may not be familiar with treatment of trichotillomania, it is important to recognize that this disorder is not treated like OCD, but requires specialized understanding and treatment approaches.

And for all clinicians, I would like to share that trichotillomania is almost always a symptom of something else. Treating the behavior as "just a behavior, or just a habit" is not going to address what is underlying the behavior. To really make progress, the following questions should be explored and answered: "What is driving the urges? Where are they coming from?" When treating patients, I tend to view trichotillomania as a messenger or a red flag that something is out of alignment or has gone awry.

Finally, patients may get worse before they get better as personal experiences, deep-rooted emotions, and core beliefs are brought to the surface.

Celiac Disease: Which Children Should Be Tested?

For Ritu Verma, MBChB, director of the Center for Celiac Disease and the Lustgarten Endowed Chair for Clinical Care of GI Motility Disorders at the Children's Hospital of Philadelphia in Pennsylvania, those numbers and the consequences of undiagnosed CD lead to a straightforward conclusion: "The biggest plea I have for pediatricians is to just do the panel," she told Medscape Medical News, referring to an antibody test panel that can help to determine whether a child likely has the disease.

However, other pediatric gastroenterologists, including Saeed Mohammad, MD, from Northwestern University Feinberg School of Medicine in Chicago, Illinois, feel that screening the entire population is just not feasible, and the cost of increased screening may not be justified.

"[CD] is more common in certain ethnic groups and less common in others," he told Medscape Medical News. "Unless the cost of genetic testing drastically decreases, I believe the current system of screening children with risk factors for [CD] such as diabetes, Down syndrome, or autoimmune diseases, as well as testing for celiac-specific antibodies in children whose growth is faltering [and] those who have diarrhea or chronic abdominal pain, is the most cost-effective option with the greatest sensitivity."

Moreover, he notes that children younger than 2 years should not be tested without high clinical suspicion, "and [diagnosis] should always be confirmed with endoscopy and biopsy," he continued.

Antibiotic Eardrops Cost-Effective in Kids With Acute Tympanostomy-Tube Otorrhea

NEW YORK (Reuters Health) - For acute otorrhea in children with tympanostomy tubes, antibiotic-glucocorticoid eardrops are not only clinically superior to oral antibiotics and initial observation, they also cost less, according to a study published this week.

Last year in the New England Journal of Medicine, Dr. Thijs van Dongen of the University Medical Center Utrecht in the Netherlands and colleagues reported an open-label trial on the clinical effectiveness of these three treatment strategies in 230 children.

As reported by Reuters Health, one week after the end of treatment, only 5% of the 76 children who received the eardrops -- which contained hydrocortisone, bacitracin and colistin -- had otorrhea compared to 44% of the 77 youngsters given an oral amoxicillin-clavulanate suspension. The rate among the 77 children initially put in an observation group was 55%, which was not significantly different from the cure rate with the oral therapy.

In a study online April 20 in Pediatrics, the researchers report a cost-effectiveness analysis of the treatment strategies, which also favors eardrops.

At two weeks, the total cost in US dollars per patient on average was $42 for antibiotic-glucocorticoid eardrops, $71 for oral antibiotics and $82 for initial observation. At six months, these costs were $368, $421, and $640, respectively, the authors report.

Otorrhea is common in children with tympanostomy tubes; each year, two of every three children develop one or more episodes.

In an email to Reuters Health, Dr. van Dongen noted that the original clinical effectiveness data were "widely covered in the media. At that time, all three treatment strategies were commonly used and with our results we recommended to only use antibiotic-steroid eardrops as the first-line treatment strategy in children with acute tympanostomy-tube otorrhea. In the Netherlands, the guidelines have been adapted based on our results. We hope that through the wide coverage, many physicians now do prescribe eardrops and that clinical practice has already changed."

"With this new publication in Pediatrics, we have an extra argument in favor of starting with ear drops instead of with initial observation, i.e., it is not only clinically superior, it is also has lowest costs," Dr. van Dongen noted.

Dr. Charles Bower, chair of the American Academy of Pediatrics Section on Otolaryngology-Head and Neck Surgery, told Reuters Health there is not a guideline specific to post-tube otorrhea. "The guidelines from AAP deal more with acute otitis media," he noted.

In clinical practice, otolaryngologists "typically have the ability to clean ears, make sure tubes are open, make sure tubes are clean and they are fine, and we would virtually 100% of the time use drops alone," Dr. Bower said. "Pediatricians, if they are very confident from a recent visit that a tube is open and fine, will also frequently use drops alone, which has increased effectiveness as well as some cost savings. If a pediatrician has uncertainty, then we still see a fairly high addition of an oral antibiotic."

The study had no commercial funding and the authors have no relevant disclosures. Microbiological analyses of samples taken as part of the trial were supported by GlaxoSmithKline through the University Medical Center Utrecht.

SOURCE: http://bit.ly/1JqVcZm

Pediatrics 2015.

MMR Vaccine Not Linked to Autism, Even in High-Risk Kids

Receipt of the measles, mumps, and rubella (MMR) vaccine was not linked to an increased risk for autism spectrum disorder (ASD), even when older siblings had ASD, a new study shows.

"These findings indicate no harmful association between MMR vaccine receipt and ASD even among children already at higher risk for ASD," Anjali Jain, MD, from the Lewin Group, Falls Church, Virginia, and colleagues write. The researchers present their findings in an article published in the April 21 issue of JAMA.

The investigators used an administrative claims database (the Optum Research Database) connected with a large commercial health plan to conduct a retrospective cohort study. They included children who had been continuously enrolled in the health plan from birth until they were at least aged 5 years during 2001 to 2012. The children also must have had an older sibling who had been continuously enrolled in the health plan for 6 months or longer between 1997 and 2012.

The researchers categorized MMR vaccine exposure according to the number of doses (0, 1, or 2) received between birth and age 5 years.

The study's main outcomes and measures were ASD status, which the researchers defined as two medical claims with a diagnosis code at any point along the autistic disorder or other specified pervasive developmental disorder, including Asperger syndrome, or unspecified pervasive developmental disorder (International Classification of Diseases, Ninth Revision, Clinical Modification, 299.0x, 299.8x, 299.9x).

The researchers included 95,727 children with older siblings. Overall, 994 (1.04%) of those children were diagnosed with ASD and 1929 (2.01%) had an older sibling with ASD. Among the children who had older siblings with ASD, 134 (6.9%) were diagnosed with ASD compared with 860 (0.9%) who were diagnosed with ASD and did not have an affected sibling (P < .001).

The MMR vaccination rate (≥1 dose) for those with siblings without ASD was 84% (n = 78,564) at age 2 years and 92% (n = 86,063) at age 5 years.

MMR vaccination rates were lower for those with older siblings with ASD at age 2 years (73% [n = 1409]) and 5 years (86% [n = 1660]).

The researchers adjusted for potential confounders, including sex of the index child, mother's and father's age at index child's birth, geographic location defined by the four US Census regions, mental health benefits, and index child birth year, which the researchers included to adjust for varying opportunities for ASD to develop or be diagnosed.

Receipt of MMR vaccination was not linked to a higher risk for ASD at any age.

For those with older siblings with ASD, at age 2 years, the adjusted relative risk (RR) for ASD for a single dose of MMR vaccine compared with no vaccine was 0.76 (95% confidence interval [CI], 0.49 - 1.18; P = .22), and at age 5 years, the RR of ASD for 2 doses compared with no vaccine was 0.56 (95% CI, 0.31-1.01; P = .052).

For those with older siblings without ASD, at age 2 years, the adjusted RR for ASD for a single MMR vaccine dose was 0.91 (95% CI, 0.67 - 1.20; P = .50), and at age 5 years, the adjusted RR for ASD for two vaccine doses was 1.12 (95% CI, 0.78 - 1.59; P = .55).

The cause or causes of autism have been difficult to identify, writes Bryan H. King, MD, MBA, from the Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, and Seattle Children's Hospital, Washington, in an accompanying editorial.

"More recently, controversy continues and is reflected in changes in diagnostic criteria and the increasing recognition of heterogeneity that incorporates the word 'spectrum' into the diagnosis," Dr King writes. "With each new prevalence estimate that suggests inexplicable and substantial increases in the number of children diagnosed with the disorder, the urgency to better understand causation is amplified."

Some parents of children with ASD have chosen to put off immunization of later children until they were sure the risk for ASD had passed, Dr King writes.

"Such behavior, which arguably could enrich the immunization rate in the nonautism subgroup relative to the group that may have been showing early atypical development, might create the impression that MMR vaccine is actually reducing risk for ASD. Indeed, Jain et al report relative risks of less than 1.0." Dr King explains. "Even so, short of arguing that MMR vaccine actually reduces the risk of ASD in those who were immunized by age 2 years, the only conclusion that can be drawn from the study is that there is no signal to suggest a relationship between MMR and the development of autism in children with or without a sibling who has autism."

This study was funded by the National Institute of Mental Health, National Institutes of Health, and the US Department of Health and Human Services. Dr Jain and two coauthors report being employees of the Lewin Group. Two coauthors are employees of Optum, which a wholly owned subsidiary of UnitedHealth Group. The Lewin Group is an Optum company. The Lewin Group operates with editorial independence. The other authors and Dr King have disclosed no relevant financial relationships.

JAMA. 2015;313:1518-1519, 1534-1540.

Care Needed to Reduce Pet-to-Human Infection Risk

By Kathryn Doyle

(Reuters Health) - Pets can be a source of infection, and newborns, the elderly, children with leukemia and adults with cancer are especially vulnerable, according to a new review of data from previous research.

Selecting the right pets and using safe strategies to care for them can reduce the risk, the authors write.

"Pets have a number of really important health benefits," including emotional and social support, said lead author Dr. Jason Stull of the Department of Veterinary Preventive Medicine at Ohio State University in Columbus.

And actually contracting an infection from a pet is relatively uncommon, he and his colleagues say.

"The biggest issue comes down to really recognizing when individuals are at greater risk," Stull said.

People with compromised immune systems are at increased risk for these infections and may have more severe disease, the authors write. Also at increased risk are kids under age five, adults over age 65, and pregnant women.

Pet-sourced infections have also been reported in organ donors and recipients, according to Bruno Chomel, who researches veterinary public health and zoonoses at University of California, Davis School of Veterinary Medicine. Chomel was not part of the new review.

More than half of households in the U.S. have pets, Chomel noted.

"We are not saying that you should get rid of the pet," he told Reuters Health by phone. But if your immune system is compromised, he added, "don't take in a stray pet or a kitten with fleas, and if you have young toddlers, don't take an iguana as a pet."

Many people don't realize their pets can be a source of infection, Stull told Reuters Health by phone.

Reptiles, amphibians, hedgehogs, chinchillas, rodents and young chickens are some of the "highest risk" animals, he said.

There aren't good data on actual rates of so-called zoonotic infections, because governments don't generally track diseases transmitted by companion animals, other than rabies.

But pets can theoretically transmit more than 70 human diseases via bites, scratches and contact with body fluids (such as saliva, urine, or feces, or infectious aerosols or droplets), the authors write online April 20 in CMAJ.

The new review covered more than 300 articles on infections originating in companion animals. Most of the studies were small, the authors note. The review also included guidelines developed by other experts.

Cats are the definitive host for the parasite Toxoplasma gondii, which can lead to congenital defects, encephalitis or meningitis when a pregnant woman is exposed.

"Your risk of toxoplasma is much higher from gardening or eating undercooked meat," Stull noted.

But in any case, it seems that neither doctors nor veterinarians are asking their human clients about pets or about young children, elderly people, or other vulnerable family members in the home.

"Most patients do not ever recall being asked if they have pets," Stull said.

When a child is diagnosed with cancer, the family may go out and get a new pet to help cope.

"In most situations there are options for finding a pet for that household, but it requires having a conversation with physicians and veterinarians," Stull said.

"It really requires strong integration and communication between all of these different groups," he said.

The most frequent mode of transmission is fecal-oral, Stull said, and care strategies can minimize that risk.

He and his coauthors recommend wearing protective gloves to clean aquariums and cages and remove feces, proper handwashing after pet contact, discouraging pets from face licking, covering playground boxes when not in use, avoiding contact with exotic animals, regular cleaning and disinfection of animal cages, feeding areas and bedding, locating litter boxes away from areas where eating and food preparation occur and regularly scheduling veterinary visits for all pets.

Households with immunocompromised people or very young children (under a few months of age) should avoid contact with puppies and kittens that are younger than six months, and avoid adopting a cat younger than a year old, the authors suggest. These people should also avoid young farm animals at petting zoos.

"Other practices will be important for all children under five years, such as strict hand washing and ensuring pets are healthy and receive preventive veterinary care," Stull said.

"There isn't necessarily one 'safest' animal, but mature dogs and cats who are well cared for are a lower risk," he said.

It is also important to teach children how to interact with pets to minimize the risk of bites, Stull added.

Many people today treat pets as children, and allow the pets to lick them and sleep in their beds, Chomel said.

"If pets are healthy, the risk is low, but your dog and cats walk outside and they bring things back," he said.

SOURCE: http://bit.ly/1zDd8KW

CMAJ 2015.

Preventing Celiac Disease in Infants: The Known and Unknown

Ritu Verma, MD

|April 13, 2015

Hi, I'm Ritu Verma. I'm one of the pediatric gastroenterologists at the Children's Hospital in Philadelphia, and I'm the director of the Celiac Center.

Today, I would like to provide some updates about celiac disease. As you know, celiac disease is an autoimmune condition, and it's the result of certain genetic factors and eating gluten. However, we do know that there are some people who have these specific genes, eat gluten-containing foods, and do not get the disease. There has been a lot of discussion about what these other factors are that actually cause the disease to be manifested.

One of the big concerns and questions in the past has been about actual nutritional input for these babies, in terms of when do we introduce gluten. Does it really make a difference in onset of the disease or the severity of the disease?

In the past, studies have found that introducing gluten between 4 and 6 months of age—not too early in life, and not too late in life—and breastfeeding at the same time seems to have been protective. We've recommended in the past that children who are genetically susceptible to celiac disease be fed cereal between those 4 to 6 months of age.

Recently, however, there were two large studies^[1,2] from Europe that followed genetically susceptible babies and their eating patterns over time. It seemed that it did not make a difference whether these babies were given cereal early or late in the first year of life. It did not seem to make a difference whether they were being breastfed or not. This is definitely contrary to what we've been discussing so far with our patients.

What was also found as part of the studies was that the genetic types seem to be the more important factor. Babies who were HLA DQ2 homozygous-positive had earlier onset of the disease. Once again, it did not seem to make a difference when the cereal or gluten were introduced.

Currently, what we are recommending is to have babies and moms and dads follow the guidelines^[3] by the American Academy of Pediatrics (AAP) in terms of when to introduce cereals and foods. We totally agree that breastfeeding is important for the babies. This has been confusing. However, this is what we have currently.

These questions are just like, for example, those raised by the Learning Early About Peanut Allergy (LEAP) study,^[4] whose results were published earlier this year. Initially, we were always taught that peanuts should be introduced later in life to cut down on peanut allergies. The recent study indicates that introducing peanuts early in the diet seems to cut down on peanut allergies in life.

A lot of confusion; however, this is the update, currently, for celiac disease. As we have more research and more long-term studies being done, we will bring those back to you as well. Thank you.

References

1. Aronsson CA, Lee HS, Liu E, et al; TEDDY Study Group. Age at gluten introduction and risk of celiac disease. Pediatrics. 2015;135:239-245. http://pediatrics.aappublications.org/content/early/2015/01/13/peds.2014-1787.full.pdf+html Accessed April 1, 2015.

Celiac Disease: Which Children Should Be Tested?

Lara C. Pullen, PhD

March 23, 2015

Serological screening studies indicate that celiac disease (CD) has a prevalence of 1% to 2% in Western populations and that the incidence is increasing across all age groups. Although many individuals develop symptomatic CD, others do not. In fact, researchers estimate that just 10% to 30% of patients with CD are ever diagnosed, in part because they may be asymptomatic.

For children, that lack of diagnosis can be critical: Young children with undiagnosed CD are particularly vulnerable to the effects of malabsorption and failure to thrive.

Because of that danger, some researchers and clinicians are pushing for widespread screening. Some experts go even further, suggesting that the entire pediatric population should be routinely screened for CD. Yet the cost and the need for invasive confirmatory biopsies leave others skeptical of that approach unless better, cheaper diagnostics become available

New data published in the March issue of the American Journal of Gastroenterology by Rok Seon Choung, MD, PhD, from the Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota, and colleagues, show that among a representative sample of nearly 15,000 Americans aged 6 years or older, the prevalence of confirmed CD was 0.8% (95% confidence interval [CI], 0.5% - 1.0%) in 2009 to 2012.

Extrapolating to the population at large, the data suggest that more than 1.5 million people in the United States have CD. Moreover, the analysis showed a near doubling in the prevalence among adults aged 50 years or older, rising from 0.17% (95% CI, 0.03 - 0.33%) in the 1988 to 1994 National Health and Nutrition Examination Survey to 0.44% (95% CI, 0.24% 0 0.81%) in the 2009 to 2012 survey. However, the adjusted prevalence is uneven among racial and ethnic groups, ranging from 1.0% of whites to 0.2% of blacks and 0.3% of Hispanics.

For Ritu Verma, MBChB, director of the Center for Celiac Disease and the Lustgarten Endowed Chair for Clinical Care of GI Motility Disorders at the Children's Hospital of Philadelphia in Pennsylvania, those numbers and the consequences of undiagnosed CD lead to a straightforward conclusion: "The biggest plea I have for pediatricians is to just do the panel," she told Medscape Medical News, referring to an antibody test panel that can help to determine whether a child likely has the disease.

However, other pediatric gastroenterologists, including Saeed Mohammad, MD, from Northwestern University Feinberg School of Medicine in Chicago, Illinois, feel that screening the entire population is just not feasible, and the cost of increased screening may not be justified.

"[CD] is more common in certain ethnic groups and less common in others," he told Medscape Medical News. "Unless the cost of genetic testing drastically decreases, I believe the current system of screening children with risk factors for [CD] such as diabetes, Down syndrome, or autoimmune diseases, as well as testing for celiac-specific antibodies in children whose growth is faltering [and] those who have diarrhea or chronic abdominal pain, is the most cost-effective option with the greatest sensitivity."

Moreover, he notes that children younger than 2 years should not be tested without high clinical suspicion, "and [diagnosis] should always be confirmed with endoscopy and biopsy," he continued.

When and How to Test?

Classic symptoms of CD include prolonged abdominal pain, poor growth, chronic diarrhea, and abdominal distention. When children present with these symptoms, physicians may think of testing for CD, but unfortunately, there is no standardized celiac panel.

The Children's Hospital of Philadelphia, where Dr Verma practices, recommends a screening panel that includes total immunoglobulin A (IgA), antitransglutaminase (anti-tTG), and antiendomysial. Deaminated gliadin can be ordered in conjunction with anti-tTG. In addition, for children younger than 3 years, it may be advisable to test for antigliadin, she says.

Dr Verma would prefer that all children be screened for CD, but if that is not possible, then she encourages pediatricians to screen when they have even the slightest suspicion that the child might have CD.

She notes that many children who are diagnosed with CD in her clinic do not have a classic presentation. Thus, Dr Verma actively educates primary care physicians about CD and encourages them to consider the possibility of CD if they are treating a patient who does not seem to get better. The primary care physician can then order the simple celiac blood test.

Meanwhile, Boston Children's Hospital in Massachusetts focuses their screening efforts on high-risk children. These would be children with classic symptoms of CD such as abdominal pain and chronic diarrhea, as well as those at known genetic risk for CD and children with type 1 diabetes.

Boston Children's Hospital uses a similar celiac panel to the one used by the Children's Hospital of Philadelphia. "We recommend that 'high-risk' children be screened with serologic celiac tests (specifically tissue transglutaminase IgA and a total IgA), even if they have no identifiable symptoms," Dascha C. Weir, MD, associate director of the Celiac Program at Boston Children's Hospital in Massachusetts, told Medscape Medical News.

A child who is strongly positive for all of these antibody tests likely has CD.

Dr Verma acknowledges that the tests can give false-negatives and provide a false sense of security to parents. They can also give a false-positive. This is why the definitive test for CD is upper endoscopy.

Dr Verma explained that physicians also need to take a dietary history. Some children do not eat a lot of gluten between the ages of 2 and 3 years, and therefore may not test positive on the celiac panel. Unfortunately, most pediatricians do not have the time to take a complete dietary history.

Moreover, the United States has a heterogeneous population, and some experts suggest that a one-size-fits-all screening approach may not be practical. That said, "care providers should have a low threshold to order celiac testing for children with gastrointestinal symptoms or nongastrointestinal symptoms," Dr Weir emphasized.

Classic Symptoms Inadequate Cues

Regrettably, many primary care physicians have the false impression that children who lack classic symptoms of CD should not be screened for the disease. Unfortunately, relying on symptoms to trigger CD testing could miss a substantial proportion of affected children, according to recently published data from Sweden.

Daniel Agardh, MD, PhD, from Lund University in Sweden, and colleagues published their subanalysis of data from The Environmental Determinants of Diabetes in the Young (TEDDY) study online March 2 in Pediatrics. Whereas the primary goal of TEDDY is to identify genetic and environmental factors that contribute to the development of type 1 diabetes, Dr Agardh and colleagues used the birth cohort data to compare children who were positive for anti-tTGA with those who were negative for anti-tTGA.

They found that, compared with children who were negative for anti-tTGA, children positive for anti-tTGA were more likely to be symptomatic at 2 and 3 years of age, but not at 4 years of age. In addition, the researchers report that anti-tTGA levels correlate with severity of mucosal lesion in symptomatic and asymptomatic children, and some asymptomatic children had quite elevated levels of anti-tTGA. These children were diagnosed with CD because they were enrolled in the study, but likely would have been missed in standard practice.

Results from the study have led the experts to propose a two-tiered screening system by which all newborns are first specifically screened for genetic susceptibility such as HLA type and, if positive, then screened for celiac-specific antibodies. This screening protocol would be a departure from that used in the United States and would include much more comprehensive genetic screening.

"With awareness and availability of gluten-free foods increasingly entrenched within the mainstream of the North American lifestyle, the burden lies on the identification of all children who may benefit from treatment. The prospective data from TEDDY effectively demonstrate the utility of 2-tiered screening and constitute a step forward in devising a population-screening strategy that best offers the appropriate treatment at a stage in life where it may yield the most lifelong benefit," writes Richard J. Noel, MD, PhD, from Duke University Medical Center in Durham, North Carolina, in an accompanying commentary in Pediatrics.

Dr Verma believes the study from Sweden advances the conversation, but does not take the concept of screening far enough. "I am glad that at least someone is thinking about screening people early," Dr Verma said. "[but] if you are between 2 and 3 years of age, you should just have a celiac panel done." She emphasized again that there are many atypical symptoms of CD, especially in children.

Genetic Risk Factors

The 2-tiered screening test may not yet be realistic for the United States.

Currently, children in the United States may be targeted for screening because they have a family history of CD or have Down syndrome, Turner syndrome, or Williams syndrome. The 2004 consensus guidelines from the National Institutes of Health indicate that patients with type 1 diabetes should also be screened for CD.

Although individuals who are homozygotic for HLA-DR3-DQ2 are at highest genetic risk for CD and tend to develop CD very early in life, HLA tests are not routinely performed in the United States, and therefore HLA status rarely triggers a CD test. According to Dr Weir, this is an evolving issue.

"Screening high-risk groups (such as family members or patients with predisposing conditions) for [CD] with serologic testing (tissue transglutaminase [immunoglobulin G and total immunoglobulin A] is widely accepted. However, in the USA, the use of HLA typing in screening children to identify who is at higher risk of [CD] has not been fully evaluated and is not currently recommended. However, as our understanding of the HLA typing and [CD] risk deepens, and as HLA testing becomes cheaper and more readily available, this may change," Dr Weir noted.

The genetic basis of CD does mean that a diagnosis of CD has implications for the entire family. If a child tests positive for CD, the family (siblings, parents, and grandparents) should be tested for CD. In addition, siblings should be periodically retested to look for the development of CD.

Poor Growth May Point to CD

Another newly proposed screening strategy suggests children should be tested for CD if they have poor growth. Although CD does not always affect growth, most children who are diagnosed experience a decrease or slowing of growth before diagnosis. A new study suggests these children could be diagnosed earlier if they were being followed in a well-established growth-monitoring program.

Antti Saari, MD, from the University of Eastern Finland in Kuopio, and colleagues published the results of their longitudinal retrospective study on the relationship between growth and CD online March 2 and in the March issue of JAMA Pediatrics. They propose that screening for CD would include the use of several growth-monitoring parameters in combination. Furthermore, the parameters should be integrated into a computerized screening algorithm associated with an electronic health record system.

"I have sort of mixed feelings about [the study].... I am personally of the belief that there should be mass screening of people," stated Dr Verma. She explained that because not all of the children with CD have growth issues, the approach proposed by Dr Saari and colleagues would miss many children with CD.

Atypical Symptoms

Dr Verma described some of the atypical symptoms of CD. For example, anemia may be a sign of CD. As a consequence, Dr Verma recommends that children with unexplained anemia be tested for CD.

She added that chronic headaches, seizures, chronic constipation, elevated liver enzymes, chronic pancreatitis, alopecia, and tiredness can all be signs and symptoms of CD. Moreover, many patients who are originally diagnosed with irritable bowel syndrome are ultimately diagnosed with CD.

Parents should be counseled to have the blood work done before experimenting with a gluten-free diet. A gluten-free diet will eventually lower the levels of antibodies, thereby making the celiac panel unreliable. Moreover, physicians should keep in mind that children who consume low levels of gluten or consume occasional gluten may have lower antibody levels, even though they have CD.

A patient who tests positive on the celiac panel should be referred to a gastroenterologist. The gastroenterologist can decide whether endoscopy is required and can counsel the patient on the importance of a gluten-free diet. Patients must understand that the gluten-free diet is for life, and they need encouragement to adopt a gluten-free lifestyle.

The authors, Dr Verma, Dr Weir, and Dr Mohammed have disclosed no relevant financial relationships.

Am J Gastroenterol. 2015;110:455-461. Choung abstract

Pediatrics. Published online March 2, 1015. Agardh full text, Commentary full text

JAMA Pediatr. Published online March 2, 2015. Abstract