- Email: [email protected]
Looking at what you see, a coeliac face
Digestive and Liver Disease 37 (2005) 646–647
Commentary
Looking at what you see, a coeliac face P.H.R. Green ∗ , P. Brar, T.T. Malahias Columbia University College of Physicians and Surgeons, New York, NY, USA Available online 22 June 2005 See related article, on pages 659–664
Coeliac disease is common worldwide. It is estimated to occur in about 1% of the US population [1]. While the rate of diagnosis is increasing [2], by far the majority of those with coeliac disease are currently undiagnosed. There are multiple reasons for the low rate of diagnosis; these include lack of awareness of the more subtle presentations of coeliac disease [3], atypical presentations (non-diarrhoeal) that are in fact more common [4], diagnostic delay, alternative diagnosis and attribution of symptoms to other diagnoses [5,6] and lack of knowledge in the primary care setting [7]. There is a broad spectrum of clinical manifestations of coeliac disease in childhood and adults. Infants may present with diarrhoea and failure to thrive, while older children with short stature, anaemia, neurological problems or gastrointestinal complaints [3]. Adults may be asymptomatic, only those at risk groups are detected by screening programmes [8]. Those detected in a population-based screening programme, who had considered themselves well, had mild anaemia, reduced bone density, low cholesterol level and a trend toward lower cardiovascular events [9]. The most frequent presentation, however, is still diarrhoea, with and without a malabsorption syndrome [4]. Other presentations include osteoporosis [10], irritable bowel syndrome [11], iron deficiency anaemia [12], incidental recognition of the signs of villous atrophy in the duodenum at endoscopy performed for reflux type symptoms [13] and neurological presentations [14,15]. At the other extreme are those that present with a severe malabsorption syndrome, small intestinal adenocarcinoma [16], refractory sprue or an enteropathy associated T-cell lymphoma [17]. The reason for this tremendously variable phenotypic presentation of coeliac disease is unclear [18]. ∗ Corresponding author at: Celiac Disease Center, Columbia University Medical Center, 161b Fort Washington Avenue, New York, NY 10032, USA. E-mail address: [email protected] (P.H.R. Green).
Screening studies from the United Kingdom have demonstrated the prevalence of the disease to be 1% of both sevenyear-old children and adults, suggesting that the disease starts in childhood and is present in adulthood when it may be manifested [9,19]. Along these lines, Finizio et al. (in this issue) of the journal describe the ‘coeliac face’ [20]. They describe disproportionately large foreheads in people with coeliac disease diagnosed in adulthood and in those diagnosed in childhood, but are not adherent to the diet. Those diagnosed in childhood who were adherent to the strict gluten-free diet did not exhibit this sign. This sign is attributed to the failure in the growth of the bones of the middle third of the face, bones that make up part of the viscerocranium. This indicates a process either nutritional or immunological affecting growth rates of specific bones at a vulnerable period of growth. Dental enamel defects are another example of a manifestation of a process occurring during a specific time period of teeth growth before age of seven years [21]. These changes in enamel, most frequently identified as symmetrical and chronologically occurring white or yellow opacities with or without horizontal lines often with the glaze of the enamel altered, mainly affect the incisors and first molars. Recognition of these defects can lead to the diagnosis of coeliac disease [22]. Gastroenterologists are generally not aware that the appearance of the teeth provide a window to health in childhood. Similarly, it appears that facial proportions reflect similar processes. It remains to be seen whether the large forehead sign of the coeliac face can be identified in populations apart from those of Italy, studied by Dr. Finizio and colleagues. However, they need to be congratulated on their translation of a clinical observation into a well conducted clinical research finding. The other message is that physicians do not see a particular sign until it is demonstrated as a sign. We now examine the teeth of patients seen in our gastroenterology and dental practices for dental
1590-8658/$30 © 2005 Published by Elsevier Ltd on behalf of Editrice Gastroenterologica Italiana S.r.l. doi:10.1016/j.dld.2005.04.011
P.H.R. Green et al. / Digestive and Liver Disease 37 (2005) 646–647
enamel defects. We will now look at the faces of the patients we see! Conflict of interest statement None declared.
References [1] NIH Consensus Development Conference on Celiac Disease. Bethesda, Washington, DC; 2004. http://www.consensus.nih.gov/ cons/118/118cdc intro.htm. [2] Murray JA, Van Dyke C, Plevak MF, Dierkhising RA, Zinmeister AR, Melton LJ 3rd. Trends in the identification and clinical features of celiac disease in a North American community, 1950–2001. Clin Gastroenterol Hepatol 2003;1:19–27. [3] D’Amico MA, Holmes J, Stavropoulos SN, Frederick M, Levy J, DeFelice AR, et al. Presentation of pediatric celiac disease in the United States: prominent effect of breast feeding. Clin Pediatr 2005;44:249–58. [4] Lo W, Sano K, Lebwohl B, Diamond B, Green PH. Changing presentation of adult celiac disease. Dig Dis Sci 2003;48:395–8. [5] Lankisch PG, Martinez Schramm A, Petersen F, Dr¨oge M, Lehnick D, Lembcke B. Diagnostic intervals for recognizing celiac disease. Z Gastroenterol 1996;34:473–7. [6] Dickey W, McConnell JB. How many hospital visits does it take before celiac sprue is diagnosed? J Clin Gastroenterol 1996;23:21–3. [7] Lanzarotto F, Crimi F, Amato M, Villanacci V, Pillan NM, Lanzini A, et al. Is under diagnosis of celiac disease compounded by mismanagement in the primary care setting? A survey in the Italian Province of Brescia. Minerva Gastroenterol Dietol 2004;50:283–8. [8] Fasano A, Berti I, Gerarduzzi T, Not T, Colletti RB, Drago S, et al. Prevalence of celiac disease in at-risk and not-at-risk groups in the United States: a large multicenter study. Arch Intern Med 2003;163:286–92. [9] West J, Logan RFA, Hill PG, Lloyd A, Lewis S, Hubbard R, et al. Seroprevalence, correlates, and characteristics of undetected coeliac disease in England. Gut 2003;52:960–5.
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[10] Stenson WF, Newberry R, Lorenz R, Baldus C, Civitelli R. Increased prevalence of celiac disease and need for routine screening among patients with osteoporosis. Arch Intern Med 2005;165:393– 9. [11] Sanders DS, Carter MJ, Hurlstone DP, Pearce A, Ward AM, McAlindon ME, et al. Association of adult coeliac disease with irritable bowel syndrome: a case–control study in patients fulfilling ROME II criteria referred to secondary care. Lancet 2001;358: 1504–8. [12] Grisolano SW, Oxentenko AS, Murray JA, Oxentenko AS, Murray JA, Burgart LJ, et al. The usefulness of routine small bowel biopsies in evaluation of iron deficiency anemia. J Clin Gastroenterol 2004;38:756–60. [13] Green PH, Shane E, Rotterdam H, Forde KA, Grossbard L. Significance of unsuspected celiac disease detected at endoscopy. Gastrointest Endosc 2000;51:60–5. [14] Chin RL, Sander HW, Brannagan TH, Green PHR, Hays AP, Alaedini A, et al. Celiac neuropathy. Neurology 2003;60:1581–5. [15] Sander HW, Magda P, Chin RL, Wu A, Brannagan TH 3rd, Green PH, et al. Cerebellar ataxia and coeliac disease. Lancet 2003;362:1548. [16] Rampertab SD, Forde KA, Green PH. Small bowel neoplasia in coeliac disease. Gut 2003;52:1211–4. [17] Cellier C, Delabesse E, Helmer C, Jabri B, Delabesse E, Cervoni JP, et al., French Coeliac Disease Study Group. Refractory sprue, coeliac disease, and enteropathy-associated T-cell lymphoma. Lancet 2000;356:203–8. [18] Johnson TC, Diamond B, Memeo L, Negulescu H, Hovhanissyan Z, Verkarre V, et al. Relationship of HLA-DQ8 and severity of celiac disease: comparison of New York and Parisian cohorts. Clin Gastroenterol Hepatol 2004;2:888–94. [19] Bingley PJ, Williams AJ, Norcross AJ, Unsworth DJ, Lock RJ, Ness AR, et al. Undiagnosed coeliac disease at age seven: population based prospective birth cohort study. Br Med J 2004;328:322–3. [20] Finizio M, Quaremba G, Mazzacca G, Ciacci C. Large forehead: a novel sign of undiagnosed coeliac disease. Dig Liver Dis 2005;37:659–64. [21] Aine L, Maki M, Collin P, Keyrilainen O. Dental enamel defects in celiac disease. J Oral Pathol Med 1990;19:241–5. [22] Aine L. Permanent tooth dental enamel defects leading to the diagnosis of coeliac disease. Br Dent J 1994;177:253–4.
Commentary
Looking at what you see, a coeliac face P.H.R. Green ∗ , P. Brar, T.T. Malahias Columbia University College of Physicians and Surgeons, New York, NY, USA Available online 22 June 2005 See related article, on pages 659–664
Coeliac disease is common worldwide. It is estimated to occur in about 1% of the US population [1]. While the rate of diagnosis is increasing [2], by far the majority of those with coeliac disease are currently undiagnosed. There are multiple reasons for the low rate of diagnosis; these include lack of awareness of the more subtle presentations of coeliac disease [3], atypical presentations (non-diarrhoeal) that are in fact more common [4], diagnostic delay, alternative diagnosis and attribution of symptoms to other diagnoses [5,6] and lack of knowledge in the primary care setting [7]. There is a broad spectrum of clinical manifestations of coeliac disease in childhood and adults. Infants may present with diarrhoea and failure to thrive, while older children with short stature, anaemia, neurological problems or gastrointestinal complaints [3]. Adults may be asymptomatic, only those at risk groups are detected by screening programmes [8]. Those detected in a population-based screening programme, who had considered themselves well, had mild anaemia, reduced bone density, low cholesterol level and a trend toward lower cardiovascular events [9]. The most frequent presentation, however, is still diarrhoea, with and without a malabsorption syndrome [4]. Other presentations include osteoporosis [10], irritable bowel syndrome [11], iron deficiency anaemia [12], incidental recognition of the signs of villous atrophy in the duodenum at endoscopy performed for reflux type symptoms [13] and neurological presentations [14,15]. At the other extreme are those that present with a severe malabsorption syndrome, small intestinal adenocarcinoma [16], refractory sprue or an enteropathy associated T-cell lymphoma [17]. The reason for this tremendously variable phenotypic presentation of coeliac disease is unclear [18]. ∗ Corresponding author at: Celiac Disease Center, Columbia University Medical Center, 161b Fort Washington Avenue, New York, NY 10032, USA. E-mail address: [email protected] (P.H.R. Green).
Screening studies from the United Kingdom have demonstrated the prevalence of the disease to be 1% of both sevenyear-old children and adults, suggesting that the disease starts in childhood and is present in adulthood when it may be manifested [9,19]. Along these lines, Finizio et al. (in this issue) of the journal describe the ‘coeliac face’ [20]. They describe disproportionately large foreheads in people with coeliac disease diagnosed in adulthood and in those diagnosed in childhood, but are not adherent to the diet. Those diagnosed in childhood who were adherent to the strict gluten-free diet did not exhibit this sign. This sign is attributed to the failure in the growth of the bones of the middle third of the face, bones that make up part of the viscerocranium. This indicates a process either nutritional or immunological affecting growth rates of specific bones at a vulnerable period of growth. Dental enamel defects are another example of a manifestation of a process occurring during a specific time period of teeth growth before age of seven years [21]. These changes in enamel, most frequently identified as symmetrical and chronologically occurring white or yellow opacities with or without horizontal lines often with the glaze of the enamel altered, mainly affect the incisors and first molars. Recognition of these defects can lead to the diagnosis of coeliac disease [22]. Gastroenterologists are generally not aware that the appearance of the teeth provide a window to health in childhood. Similarly, it appears that facial proportions reflect similar processes. It remains to be seen whether the large forehead sign of the coeliac face can be identified in populations apart from those of Italy, studied by Dr. Finizio and colleagues. However, they need to be congratulated on their translation of a clinical observation into a well conducted clinical research finding. The other message is that physicians do not see a particular sign until it is demonstrated as a sign. We now examine the teeth of patients seen in our gastroenterology and dental practices for dental
1590-8658/$30 © 2005 Published by Elsevier Ltd on behalf of Editrice Gastroenterologica Italiana S.r.l. doi:10.1016/j.dld.2005.04.011
P.H.R. Green et al. / Digestive and Liver Disease 37 (2005) 646–647
enamel defects. We will now look at the faces of the patients we see! Conflict of interest statement None declared.
References [1] NIH Consensus Development Conference on Celiac Disease. Bethesda, Washington, DC; 2004. http://www.consensus.nih.gov/ cons/118/118cdc intro.htm. [2] Murray JA, Van Dyke C, Plevak MF, Dierkhising RA, Zinmeister AR, Melton LJ 3rd. Trends in the identification and clinical features of celiac disease in a North American community, 1950–2001. Clin Gastroenterol Hepatol 2003;1:19–27. [3] D’Amico MA, Holmes J, Stavropoulos SN, Frederick M, Levy J, DeFelice AR, et al. Presentation of pediatric celiac disease in the United States: prominent effect of breast feeding. Clin Pediatr 2005;44:249–58. [4] Lo W, Sano K, Lebwohl B, Diamond B, Green PH. Changing presentation of adult celiac disease. Dig Dis Sci 2003;48:395–8. [5] Lankisch PG, Martinez Schramm A, Petersen F, Dr¨oge M, Lehnick D, Lembcke B. Diagnostic intervals for recognizing celiac disease. Z Gastroenterol 1996;34:473–7. [6] Dickey W, McConnell JB. How many hospital visits does it take before celiac sprue is diagnosed? J Clin Gastroenterol 1996;23:21–3. [7] Lanzarotto F, Crimi F, Amato M, Villanacci V, Pillan NM, Lanzini A, et al. Is under diagnosis of celiac disease compounded by mismanagement in the primary care setting? A survey in the Italian Province of Brescia. Minerva Gastroenterol Dietol 2004;50:283–8. [8] Fasano A, Berti I, Gerarduzzi T, Not T, Colletti RB, Drago S, et al. Prevalence of celiac disease in at-risk and not-at-risk groups in the United States: a large multicenter study. Arch Intern Med 2003;163:286–92. [9] West J, Logan RFA, Hill PG, Lloyd A, Lewis S, Hubbard R, et al. Seroprevalence, correlates, and characteristics of undetected coeliac disease in England. Gut 2003;52:960–5.
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[10] Stenson WF, Newberry R, Lorenz R, Baldus C, Civitelli R. Increased prevalence of celiac disease and need for routine screening among patients with osteoporosis. Arch Intern Med 2005;165:393– 9. [11] Sanders DS, Carter MJ, Hurlstone DP, Pearce A, Ward AM, McAlindon ME, et al. Association of adult coeliac disease with irritable bowel syndrome: a case–control study in patients fulfilling ROME II criteria referred to secondary care. Lancet 2001;358: 1504–8. [12] Grisolano SW, Oxentenko AS, Murray JA, Oxentenko AS, Murray JA, Burgart LJ, et al. The usefulness of routine small bowel biopsies in evaluation of iron deficiency anemia. J Clin Gastroenterol 2004;38:756–60. [13] Green PH, Shane E, Rotterdam H, Forde KA, Grossbard L. Significance of unsuspected celiac disease detected at endoscopy. Gastrointest Endosc 2000;51:60–5. [14] Chin RL, Sander HW, Brannagan TH, Green PHR, Hays AP, Alaedini A, et al. Celiac neuropathy. Neurology 2003;60:1581–5. [15] Sander HW, Magda P, Chin RL, Wu A, Brannagan TH 3rd, Green PH, et al. Cerebellar ataxia and coeliac disease. Lancet 2003;362:1548. [16] Rampertab SD, Forde KA, Green PH. Small bowel neoplasia in coeliac disease. Gut 2003;52:1211–4. [17] Cellier C, Delabesse E, Helmer C, Jabri B, Delabesse E, Cervoni JP, et al., French Coeliac Disease Study Group. Refractory sprue, coeliac disease, and enteropathy-associated T-cell lymphoma. Lancet 2000;356:203–8. [18] Johnson TC, Diamond B, Memeo L, Negulescu H, Hovhanissyan Z, Verkarre V, et al. Relationship of HLA-DQ8 and severity of celiac disease: comparison of New York and Parisian cohorts. Clin Gastroenterol Hepatol 2004;2:888–94. [19] Bingley PJ, Williams AJ, Norcross AJ, Unsworth DJ, Lock RJ, Ness AR, et al. Undiagnosed coeliac disease at age seven: population based prospective birth cohort study. Br Med J 2004;328:322–3. [20] Finizio M, Quaremba G, Mazzacca G, Ciacci C. Large forehead: a novel sign of undiagnosed coeliac disease. Dig Liver Dis 2005;37:659–64. [21] Aine L, Maki M, Collin P, Keyrilainen O. Dental enamel defects in celiac disease. J Oral Pathol Med 1990;19:241–5. [22] Aine L. Permanent tooth dental enamel defects leading to the diagnosis of coeliac disease. Br Dent J 1994;177:253–4.