Arab Journal of Gastroenterology 14 (2013) 183–185
Contents lists available at ScienceDirect
Arab Journal of Gastroenterology journal homepage: www.elsevier.com/locate/ajg
Case Report
Plummer Vinson syndrome association with coeliac disease Rania Hefaiedh ⇑, Yosra Boutreaa, Asma Ouakaa-Kchaou, Asma Kochlef, Héla Elloumi, Dalila Gargouri, Jamel Kharrat, Abdeljabbar Ghorbel Department of Gastroenterology, Habib Thameur Hospital, 8, Rue Ali Ben Ayed, Montfleury, 1008 Tunis, Tunisia
Introduction The association between Plummer–Vinson syndrome (PVs) and coeliac disease (CD) is not widely reported. In both entities there is iron-deficiency anaemia. This case report emphasises that the diagnosis of CD must be borne in mind each time we face a case of iron-deficiency anaemia, especially when associated with PVs. We describe two patients with CD who presented as PVs. These case reports emphasise the need of screening for CD in patients with PVs.
Case report 1 A 61-year-old female was admitted to our hospital with progressive and long-standing (5 years) symptoms of dysphagia and weight loss. Her past history and family history were unremarkable. Her physical examination showed only pallor without jaundice. The laboratory findings noted microcystic, hypochromic iron-deficiency anaemia with a haemoglobin level of 6.8 g dL–1, a mean corpuscular volume (MCV) of 59.8 Fl, a mean corpuscular haemoglobin (MCH) level of 16 pg, a mean cell haemoglobin concentration (MCHC) of 28 g dL–1, a serum ferritin level of 1.1 ng mL–1; the other findings were unremarkable. Endoscopy revealed a web at 20 cm from the incisor and the endoscope did not pass through at the level of the web (Fig. 1). Intending to explore anaemia, the laboratory findings showed an elevated level of immunoglobulin G (IgG) and IgA anti-gliadin antibodies (anti-G) and anti-transglutaminase antibodies (anti-TG). Endoscopic bougienage was performed with the use of a Savary-Gilliard bougie with no complications (Fig. 2). After dilatation, the endoscope passed through the oesophagus easily. The remaining oesophagus and stomach were normal but a scalloping of duodenal mucosal fold was noted. A pathologic examination of jejunal biopsy specimens showed absence of villi, elongated crypts and mononuclear infiltrate leading to the diagnosis of CD. The patient improved after ⇑ Corresponding author. Address: Department of Gastroenterology, Habib Thameur Hospital, 8, Rue Ali Ben Ayed, Montfleury 1008, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia. Tel.: +216 23 512 694; fax: +216 71 493 167. E-mail address: [email protected] (R. Hefaiedh).
institution of a gluten-free diet. Furthermore, the patient’s dysphagia resolved shortly after the treatment. Case report 2 A 41-year-old male was admitted with a 2-month history of difficulty in swallowing solids, an 8-year history of diarrhoea and weight loss. On admission, he was pale with a smooth tongue, an angular cheilitis and an oedema of lower limbs. Laboratory data were: haemoglobin, 4.3 g dL–1; haematocrit, 17.5%; MCV 60 fl; MCH, 15 pg; and MCHC, 24.8 g dL–1. The serum iron and the ferritin were found to be low at 5.4 lmol L–1 and 1.1 ng mL–1, respectively. Biochemical features of malabsorption with prolonged coagulation time and low serum albumin, cholesterol and calcium levels were also noted. Because of this malabsorption syndrome, a CD was suspected and the serum antibodies including anti-TG and IgG and IgA anti-G were abnormal. Oesophagoscopy demonstrated a narrowing at the distal cervical oesophagus at 16 cm from the incisor and the endoscope did not pass through. Radiographic oesophagography revealed an upper oesophageal stricture caused by a mucosal diaphragm (Fig. 3). The patient was initially treated with a transfusion of 4 units of packed red blood cells followed by an oral ferrous agent, 300 mg daily. A successful rupture of the web was accomplished by the use of the oesophagoscope and was followed by immediate resolution of the patient’s dysphagia. After dilatation, the endoscope passed through the oesophagus easily. The endoscopic appearance of duodenal mucosa and folds were noted for scalloping. A pathologic examination of duodenal biopsy specimens showed a flat mucosa with no recognisable villi leading to the diagnosis of CD. The patient had a significant improvement in haematological and biochemical parameters within 6 weeks of a gluten-free diet. Discussion PVs, also known as Paterson–Kelly syndrome or sideropenic dysphagia, refers to the constellation of dysphagia, iron-deficiency anaemia and oesophageal webs. The association of dysphagia and sideroblastic anaemia was initially described by Plummer in 1912, but their connection to oesophageal webbing was not established until much later [1]. PVs affects mainly women (85%), between the third and seventh decades of life [2], but some cases in children and adolescents have been reported [3]. The syndrome
1687-1979/$ - see front matter Ó 2013 Arab Journal of Gastroenterology. Published by Elsevier B.V. All rights reserved. http://dx.doi.org/10.1016/j.ajg.2013.10.003
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R. Hefaiedh et al. / Arab Journal of Gastroenterology 14 (2013) 183–185
Fig. 1. Endoscopic view of an oesophageal web.
Fig. 3. Barium swallow: upper oesophageal stricture caused by a mucosal diaphragm.
Fig. 2. Savary-Gilliard dilatation in the management of cervical web of the oesophagus.
incidence is decreasing, which may be attributed to improved nutrition and better treatment of iron deficiency. The most common benign cause of cervical-type dysphagia is upper oesophageal webs, which are fragile membranes and respond well to oesophageal dilatation. Dysphagia was the main symptom that led both patients to seek medical help and dilatation therapy. The pathogenesis of the syndrome remains unclear, but possible aetiopathogenetic mechanisms include iron deficiency, genetic predisposition or auto-immune disorder. Several reports suggested the aetiologic association between iron deficiency and web formation. However, population studies do not confirm this theory. Treatment with iron supplementation usually produces complete resolution of the dysphagia [4]. Refractory cases require endoscopic oesophageal dilation. CD is a recognised cause of chronic iron deficiency. Since both entities have iron-deficiency anaemia, CD might be the aetiological factor for iron-deficiency anaemia in PVs. However, further reports are necessary to clarify whether the co-existence between PVs and CD is causal or casual. These case reports emphasise the need to screen for CD in patients with PVs. CD has been traditionally recognised in children and young adults; however, in recent years, detection in the elderly population has increased [5]. Our two case reports were of patients aged over 40 years. A significant number of adult patients with CD remain either silent or asymptomatic [6,7]. Anaemia without other clinical clues of intestinal malabsorption is one of the most common extra-intestinal manifestations of CD [7,8]. Our first patient presented with no typical manifestations of CD such as chronic diarrhoea and malabsorption. Dysphagia in her case might have been responsible for weight
loss, which could be another atypical symptom of CD. Thus, in obscure iron-deficiency anaemia, the absence of the crude markers of anaemia of chronic disease, such as increased C-reactive protein (CRP), sedimentation rate or fibrinogen, may not allow the exclusion of an underlying inflammatory gastrointestinal disease, such as CD. Iron deficiency is usually the cause of anaemia in CD but other nutrients may be deficient, such as folic acid, sometimes producing a dimorphic peripheral blood smear (if combined with iron deficiency). In these elderly patients, concomitant hypoalbuminaemia with peripheral oedema and ascitis may also occur with hypocalcaemia and hypomagnesaemia [9]. In our second case, the patient presented with a long-standing typical manifestation of CD; however, these symptoms were well tolerated. An abdominal ultrasound study revealed gallbladder stones in the two cases, which could be related to the weight loss. These cases provide the rare opportunity to diagnose a CD as well as its accompanying PVs. Considering the non-classic symptoms of CD in adult patients and the findings of anaemia in PVs, small-intestine biopsies should be performed in patients presenting with PVs. Conflicts of interest The authors declared that there was no conflict of interest. References [1] Plummer HS. Diffuse dilatation of the esophagus without anatomic stenosis (cardio spasm), a report of 91 cases. JAMA 1912;58:2013–5. [2] Chisholm M. The association between webs, iron, and post-cricoids carcinoma. Postgrad Med J 1974;50:215–9.
R. Hefaiedh et al. / Arab Journal of Gastroenterology 14 (2013) 183–185 [3] Lopez Rodrigez MJ, Robledo Andres P, Amarilla Jimenez A, et al. Sideropenic dysphagia in an adolescent. J Pediatr Gastroenterol Nutr 2002;34:87–90. [4] Atmadzitis K, Papaziogas B, Pavlidis T, et al. Plummer–Vinson syndrome. Dis Esophagus 2003;16:154–7. [5] Freeman H, Lemoyne M, Pare P. Coeliac disease. Best Pract Res Clin Gastroenterol 2002;16:37–49. [6] Makharia GK. Where are adult Indian celiacs? Trop Gastroenterol 2006;27:1–3.
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[7] Bottaro G, Cataldo F, Rotolo N, et al. The clinical pattern of sub clinical/silent celiac disease: an analysis on 1026 consecutives cases. Am J Gastroenterol 1999;94:691–6. [8] Halfdanarson TR, Litzow MR, Murray JA. Hematologic manifestations of celiac disease. Blood 2007;109:412–21. [9] Freeman HJ. Clinical spectrum of biopsy-defined celiac disease in the elderly. Can J Gastroenterol 1995;9:42–6.
Contents lists available at ScienceDirect
Arab Journal of Gastroenterology journal homepage: www.elsevier.com/locate/ajg
Case Report
Plummer Vinson syndrome association with coeliac disease Rania Hefaiedh ⇑, Yosra Boutreaa, Asma Ouakaa-Kchaou, Asma Kochlef, Héla Elloumi, Dalila Gargouri, Jamel Kharrat, Abdeljabbar Ghorbel Department of Gastroenterology, Habib Thameur Hospital, 8, Rue Ali Ben Ayed, Montfleury, 1008 Tunis, Tunisia
Introduction The association between Plummer–Vinson syndrome (PVs) and coeliac disease (CD) is not widely reported. In both entities there is iron-deficiency anaemia. This case report emphasises that the diagnosis of CD must be borne in mind each time we face a case of iron-deficiency anaemia, especially when associated with PVs. We describe two patients with CD who presented as PVs. These case reports emphasise the need of screening for CD in patients with PVs.
Case report 1 A 61-year-old female was admitted to our hospital with progressive and long-standing (5 years) symptoms of dysphagia and weight loss. Her past history and family history were unremarkable. Her physical examination showed only pallor without jaundice. The laboratory findings noted microcystic, hypochromic iron-deficiency anaemia with a haemoglobin level of 6.8 g dL–1, a mean corpuscular volume (MCV) of 59.8 Fl, a mean corpuscular haemoglobin (MCH) level of 16 pg, a mean cell haemoglobin concentration (MCHC) of 28 g dL–1, a serum ferritin level of 1.1 ng mL–1; the other findings were unremarkable. Endoscopy revealed a web at 20 cm from the incisor and the endoscope did not pass through at the level of the web (Fig. 1). Intending to explore anaemia, the laboratory findings showed an elevated level of immunoglobulin G (IgG) and IgA anti-gliadin antibodies (anti-G) and anti-transglutaminase antibodies (anti-TG). Endoscopic bougienage was performed with the use of a Savary-Gilliard bougie with no complications (Fig. 2). After dilatation, the endoscope passed through the oesophagus easily. The remaining oesophagus and stomach were normal but a scalloping of duodenal mucosal fold was noted. A pathologic examination of jejunal biopsy specimens showed absence of villi, elongated crypts and mononuclear infiltrate leading to the diagnosis of CD. The patient improved after ⇑ Corresponding author. Address: Department of Gastroenterology, Habib Thameur Hospital, 8, Rue Ali Ben Ayed, Montfleury 1008, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia. Tel.: +216 23 512 694; fax: +216 71 493 167. E-mail address: [email protected] (R. Hefaiedh).
institution of a gluten-free diet. Furthermore, the patient’s dysphagia resolved shortly after the treatment. Case report 2 A 41-year-old male was admitted with a 2-month history of difficulty in swallowing solids, an 8-year history of diarrhoea and weight loss. On admission, he was pale with a smooth tongue, an angular cheilitis and an oedema of lower limbs. Laboratory data were: haemoglobin, 4.3 g dL–1; haematocrit, 17.5%; MCV 60 fl; MCH, 15 pg; and MCHC, 24.8 g dL–1. The serum iron and the ferritin were found to be low at 5.4 lmol L–1 and 1.1 ng mL–1, respectively. Biochemical features of malabsorption with prolonged coagulation time and low serum albumin, cholesterol and calcium levels were also noted. Because of this malabsorption syndrome, a CD was suspected and the serum antibodies including anti-TG and IgG and IgA anti-G were abnormal. Oesophagoscopy demonstrated a narrowing at the distal cervical oesophagus at 16 cm from the incisor and the endoscope did not pass through. Radiographic oesophagography revealed an upper oesophageal stricture caused by a mucosal diaphragm (Fig. 3). The patient was initially treated with a transfusion of 4 units of packed red blood cells followed by an oral ferrous agent, 300 mg daily. A successful rupture of the web was accomplished by the use of the oesophagoscope and was followed by immediate resolution of the patient’s dysphagia. After dilatation, the endoscope passed through the oesophagus easily. The endoscopic appearance of duodenal mucosa and folds were noted for scalloping. A pathologic examination of duodenal biopsy specimens showed a flat mucosa with no recognisable villi leading to the diagnosis of CD. The patient had a significant improvement in haematological and biochemical parameters within 6 weeks of a gluten-free diet. Discussion PVs, also known as Paterson–Kelly syndrome or sideropenic dysphagia, refers to the constellation of dysphagia, iron-deficiency anaemia and oesophageal webs. The association of dysphagia and sideroblastic anaemia was initially described by Plummer in 1912, but their connection to oesophageal webbing was not established until much later [1]. PVs affects mainly women (85%), between the third and seventh decades of life [2], but some cases in children and adolescents have been reported [3]. The syndrome
1687-1979/$ - see front matter Ó 2013 Arab Journal of Gastroenterology. Published by Elsevier B.V. All rights reserved. http://dx.doi.org/10.1016/j.ajg.2013.10.003
184
R. Hefaiedh et al. / Arab Journal of Gastroenterology 14 (2013) 183–185
Fig. 1. Endoscopic view of an oesophageal web.
Fig. 3. Barium swallow: upper oesophageal stricture caused by a mucosal diaphragm.
Fig. 2. Savary-Gilliard dilatation in the management of cervical web of the oesophagus.
incidence is decreasing, which may be attributed to improved nutrition and better treatment of iron deficiency. The most common benign cause of cervical-type dysphagia is upper oesophageal webs, which are fragile membranes and respond well to oesophageal dilatation. Dysphagia was the main symptom that led both patients to seek medical help and dilatation therapy. The pathogenesis of the syndrome remains unclear, but possible aetiopathogenetic mechanisms include iron deficiency, genetic predisposition or auto-immune disorder. Several reports suggested the aetiologic association between iron deficiency and web formation. However, population studies do not confirm this theory. Treatment with iron supplementation usually produces complete resolution of the dysphagia [4]. Refractory cases require endoscopic oesophageal dilation. CD is a recognised cause of chronic iron deficiency. Since both entities have iron-deficiency anaemia, CD might be the aetiological factor for iron-deficiency anaemia in PVs. However, further reports are necessary to clarify whether the co-existence between PVs and CD is causal or casual. These case reports emphasise the need to screen for CD in patients with PVs. CD has been traditionally recognised in children and young adults; however, in recent years, detection in the elderly population has increased [5]. Our two case reports were of patients aged over 40 years. A significant number of adult patients with CD remain either silent or asymptomatic [6,7]. Anaemia without other clinical clues of intestinal malabsorption is one of the most common extra-intestinal manifestations of CD [7,8]. Our first patient presented with no typical manifestations of CD such as chronic diarrhoea and malabsorption. Dysphagia in her case might have been responsible for weight
loss, which could be another atypical symptom of CD. Thus, in obscure iron-deficiency anaemia, the absence of the crude markers of anaemia of chronic disease, such as increased C-reactive protein (CRP), sedimentation rate or fibrinogen, may not allow the exclusion of an underlying inflammatory gastrointestinal disease, such as CD. Iron deficiency is usually the cause of anaemia in CD but other nutrients may be deficient, such as folic acid, sometimes producing a dimorphic peripheral blood smear (if combined with iron deficiency). In these elderly patients, concomitant hypoalbuminaemia with peripheral oedema and ascitis may also occur with hypocalcaemia and hypomagnesaemia [9]. In our second case, the patient presented with a long-standing typical manifestation of CD; however, these symptoms were well tolerated. An abdominal ultrasound study revealed gallbladder stones in the two cases, which could be related to the weight loss. These cases provide the rare opportunity to diagnose a CD as well as its accompanying PVs. Considering the non-classic symptoms of CD in adult patients and the findings of anaemia in PVs, small-intestine biopsies should be performed in patients presenting with PVs. Conflicts of interest The authors declared that there was no conflict of interest. References [1] Plummer HS. Diffuse dilatation of the esophagus without anatomic stenosis (cardio spasm), a report of 91 cases. JAMA 1912;58:2013–5. [2] Chisholm M. The association between webs, iron, and post-cricoids carcinoma. Postgrad Med J 1974;50:215–9.
R. Hefaiedh et al. / Arab Journal of Gastroenterology 14 (2013) 183–185 [3] Lopez Rodrigez MJ, Robledo Andres P, Amarilla Jimenez A, et al. Sideropenic dysphagia in an adolescent. J Pediatr Gastroenterol Nutr 2002;34:87–90. [4] Atmadzitis K, Papaziogas B, Pavlidis T, et al. Plummer–Vinson syndrome. Dis Esophagus 2003;16:154–7. [5] Freeman H, Lemoyne M, Pare P. Coeliac disease. Best Pract Res Clin Gastroenterol 2002;16:37–49. [6] Makharia GK. Where are adult Indian celiacs? Trop Gastroenterol 2006;27:1–3.
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[7] Bottaro G, Cataldo F, Rotolo N, et al. The clinical pattern of sub clinical/silent celiac disease: an analysis on 1026 consecutives cases. Am J Gastroenterol 1999;94:691–6. [8] Halfdanarson TR, Litzow MR, Murray JA. Hematologic manifestations of celiac disease. Blood 2007;109:412–21. [9] Freeman HJ. Clinical spectrum of biopsy-defined celiac disease in the elderly. Can J Gastroenterol 1995;9:42–6.
