Benign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations / 대한소아소화기영양학회지

Benign recurrent intrahepatic cholestasis (BRIC), a rare cause of cholestasis, is characterized by recurrent episodes of cholestasis without permanent liver damage. BRIC type 2 (BRIC2) is an autosomal recessive disorder caused by ABCB11 mutations. A 6-year-old girl had recurrent episodes of jaundice. At two months of age, jaundice and hepatosplenomegaly developed. Liver function tests showed cholestatic hepatitis. A liver biopsy revealed diffuse giant cell transformation, bile duct paucity, intracytoplasmic cholestasis, and periportal fibrosis. An ABCB11 gene study revealed novel compound heterozygous mutations, including c.2075+3A>G in IVS17 and p.R1221K. Liver function test results were normal at 12 months of age. At six years of age, steatorrhea, jaundice, and pruritus developed. Liver function tests improved following administration of phenylbutyrate and rifampicin. Her younger brother developed jaundice at two months of age and his genetic tests revealed the same mutations as his sister. This is the first report of BRIC2 confirmed by ABCB11 mutations in Korean siblings.

Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1 / 대한소아소화기영양학회지

Progressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic disorders, inherited in an autosomal recessive manner, causing cholestasis of hepatocellular origin, later progressing to biliary cirrhosis and liver failure. This is the first report of PFIC type 1 with novel compound heterozygous mutations in Korea. The patient was presented with intrahepatic cholestasis, a normal level of serum γ-glutamyl transferase, steatorrhea, and growth failure. Genetic testing of this patient revealed novel compound heterozygous mutations (p.Glu585Ter and p.Leu749Pro) in the ATP8B1 gene. After a liver transplantation at age 19 months, the patient developed severe post-transplant steatohepatitis.

Chylomicron Retention Disease: a Description of a New Mutation in a Very Rare Disease / 대한소아소화기영양학회지

Chylomicron retention disease, also known as Anderson's disease, is a rare hereditary hypocholesterolemic disorder, recessive inherited, characterized by nonspecific symptoms as abdominal distension, steatorrhea, and vomiting associated with failure to thrive. We describe a patient with failure to thrive, chronic diarrhea and steatorrhea who the diagnosis of chylomicron retention disease was established after several months of disease progression. The genetic study confirmed a homozygosity mutation in SAR1B gene, identifying a mutation never previous described [c.83_84delTG(p.Leu28Argfs*7)]. With this case report the authors aim to highlight for this very rare cause of failure to thrive and for the importance of an attempting diagnosis, in order to start adequate management with low fat diet supplemented with fat-soluble vitamins, reverting the state of malnutrition and avoiding possible irreversible and desvantating complications.

Clinical Features, Natural History, and Complications of Chronic Pancreatitis / 대한췌담도학회지

Chronic pancreatitis is a debilitating disease characterized by abdominal pain, exocrine insufficiency, and diabetes mellitus and has had great social, economic, and psychological impacts. Traditional definition of chronic pancreatitis has been based on irreversible histological findings such as self-sustaining chronic inflammation, fibrosis, and eventual destruction of ductal, exocrine, and endocrine tissues. In contrast, the traditional characteristics of acute pancreatitis have been thought as a complete recovery of pancreatic function and morphology during the convalescence period. Acute and chronic pancreatitis have been considered separated disease entities. However, the current idea regarding the natural course of pancreatitis is that acute pancreatitis can progress to the intermediate step of recurrent acute pancreatitis, and finally to chronic pancreatitis. This evolution can be characterized by a sequence of necrotic and fibrotic events, or described by sentinel acute pancreatitis event (SAPE) hypothesis. Therefore, chronic pancreatitis is better defined as a progressive inflammatory and fibrotic disease of the pancreas with clinical features of abdominal pain, malnutrition, diabetes mellitus and imaging features of pancreatic parenchymal/ductal calcifications. The complications of chronic pancreatitis include pseudocyst, pseudoaneurysm, fistula, biliary stricture, and duodenal stricture. This review describes the progression from acute to chronic pancreatitis, the mechanisms and nature of abdominal pain, steatorrhea, pancreatogenic diabetes mellitus, pseudocyst, pseudoaneurysm, and biliary stricture associated with chronic pancreatitis.

Síndrome Carcinoide: Presentación de caso y revisión de la literatura / Carcinoid syndrome: case report and literature review

Se presenta el caso de una mujer de 63 años de edad, con cuadro clínico crónico de un año de evolución caracterizado por diarrea esteatorreica, asociado a episodios de dolor abdominal difuso, tipo cólico, “sensación de bochornos” y enrojecimiento en cara y tronco superior. El abordaje diagnóstico de la diarrea crónica es un reto para los médicos generales y especialistas, más aún, cuando se acompaña de manifestaciones inespecíficas como dolor abdominal y la presencia de “bochornos”. La coexistencia de varios de los anteriores síntomas, obliga a descartar diversas patologías que representan alta morbimortalidad para el paciente. El síndrome de intestino irritable, el feocromocitoma, el hipertiroidismo, el síndrome carcinoide, entre otras, son patologías a excluir en todo caso. El presente artículo pretende brindar el diagnóstico diferencial de las patologías que presentan dichos síntomas, buscando conducir al lector hasta el diagnóstico definitivo de la paciente.

A 63-year-old woman reported a chronic clinical evolution of one year characterized by steatorrhea, associated with episodes of diffuse abdominal pain, cramping and “hot flashes” also redness on the face and upper trunk . The diagnostic approach of chronic diarrhea is a challenge for physicians and specialists, especially, when accompanied by nonspecific manifestations such as abdominal pain and the presence of “hot flashes”. The coexistence of several of these symptoms must be ruled various pathologies that represent high morbidity and mortality for the patient. Irritable bowel syndrome, pheochromocytoma, hyperthyroidism, carcinoid syndrome, among others, are conditions to exclude in any case. This article aims to provide the differential diagnosis of the diseases that have these symptoms, seeking to lead the reader to the definitive diagnosis of the patient.

Surgical treatment of chronic pancreatitis in young patients / 华中科技大学学报（医学）（英德文版）

The main treatment strategies for chronic pancreatitis in young patients include therapeutic endoscopic retrograde cholangio-pancreatography (ERCP) intervention and surgical intervention. Therapeutic ERCP intervention is performed much more extensively for its minimally invasive nature, but a part of patients are referred to surgery at last. Historical and follow-up data of 21 young patients with chronic pancreatitis undergoing duodenum-preserving total pancreatic head resection were analyzed to evaluate the outcomes of therapeutic ERCP intervention and surgical intervention in this study. The surgical complications of repeated therapeutic ERCP intervention and surgical intervention were 38% and 19% respectively. During the first therapeutic ERCP intervention to surgical intervention, 2 patients developed diabetes, 5 patients developed steatorrhea, and 5 patients developed pancreatic type B pain. During the follow-up of surgical intervention, 1 new case of diabetes occurred, 1 case of steatorrhea recovered, and 4 cases of pancreatic type B pain were completely relieved. In a part of young patients with chronic pancreatitis, surgical intervention was more effective than therapeutic ERCP intervention on delaying the progression of the disease and relieving the symptoms.

A Case of Metastatic Renal Cell Carcinoma Bleeding of the Pancreas Manifesting As Cholangitis / 대한췌담도학회지

Renal cell carcinoma (RCC) is the second most common urological malignancy and it has diverse range of clinical manifestation. One third of the patients show the metastasis at the time of the diagnosis. The common sites of metastasis are the lung, bone, lymph nodes and metastasis to the pancreas is rare. In case of pancreatic metastasis, more than half of the patients are asymptomatic. Patients with symptoms visit hospital complaining of abdominal pain, weight loss, steatorrhea and rarely biliary obstruction. Although about 40% of all patients visit hospital with hemorrhage, cholangitis caused by spontaneous pancreatic hemorrhage is rare. We report an interesting case of 61-year-old woman with cholangitis caused by bleeding due to pancreatic metastasis from renal cell carcinoma.

Clinical and genetic features in patients with cystic fibrosis in southwestern Iran

Cystic fibrosis [CF] is a common autosomal recessive genetic disease caused by a mutation in the CF transmembrane conductance regulatory [CFTR] gene. This study attempted to identify the most common CFTR mutations and any correlations between certain mutations and the clinical presentation of the disease in CF patients in southwestern Iran. Twenty nine common CFTR gene mutations were examined in 45 CF patients. Chronic cough, intestinal obstruction, dehydration, heat exhaustion and steatorrhea were the most common early clinical symptoms among our patients. The most common mutation was deltaF508, with an allele frequency of 21%. The homozygous deltaF508 mutation was observed in eight patients [18%], and three patients [7%] were deltaF508 carriers. The 2183AA>G mutation was observed in four patients, one of whom was also a deltaF508 carrier. The R1162X mutation was detected in two patients. The G542X, R334W and N1303K mutations were detected each in one patient, the first of whom was also a deltaF508 carrier. Out of 45 patients, 27 [60%] had none of the CFTR gene mutations we tested for. The most frequent mutations in southwestern Iranian patients with CF should be identified by sequencing the entire CFTR gene in order to optimize the design of a diagnostic kit for common regional mutations

Valores normales de la prueba Sudan III en niños sanos menores de un año de edad / Normal range for Sudan III test in under children under one year of age

La esteatorrea es la pérdida de grasa en las heces. Se manifiesta clínicamente con heces fétidas, grasosas y abundantes. Se puede determinar por el método Van de Kamer, el esteatocrito acidificado y la tinción sudan III en heces. El objetivo del presente trabajo es precisar el valor normal de la prueba Sudan III en heces. Se incluyeron las muestras de heces de 2000 niños sanos (recién nacidos pre-término, recién nacidos a término, lactantes de 1-4 meses y de 5-12 meses de edad), 500 muestras por grupo. Se realizó en el Hospital Universitario de los Andes, en Mérida-Venezuela, durante los años 1999-2009. En la prueba se utilizó la tinción sudan III y el reactivo de Saathoff, con lente microscópico de 40 y se tomaron en cuenta las gotas grandes y medianas de grasa por campo. Es una investigación clínica con enfoque epidemiológico, observacional de tipo aleatoria. Del total de niños 53% fueron varones y 47% niñas. El promedio de evacuaciones por día fue de 3 en los recién nacidos, de 2 a 3 en los lactantes menores de 4 meses y de 1 a 2 en los de 5 a 12 meses de edad. El valor normal de la prueba Sudan III en heces varía dependiendo de la edad. En RN pre-término un promedio de 5.4 gotas (12-0 gotas)de grasa por campo, en RN a término 7.9 gotas (16-0), en lactantes menores de 4 meses de edad 4.3 gotas (10-0) y en los lactantes de 5-12 meses 3.8 gotas (6-0) de grasa por campo. La prueba Sudan III orienta en el diagnostico de esteatorrea en niños, en pacientes con mala absorción intestinal y en la evaluación del uso de enzimas pancreáticas. Es una técnica sencilla, económica y fácil de realizar. El conocer los valores normales dependiendo de la edad pediátrica permite al médico tratante plantear la existencia de esteatorrea patológica.Palabras claves: esteatorrea, prueba Sudan III en heces

Steatorrhea is the loss of fat through the stools. It becomes clinically apparent with the presence of increased amounts of foul and fatty stools. It can be determined through the Van de Kamer method, the acid steatocrit and the Sudan III stain test of stools. The objective of this paper is to specify the normal value of the Sudan III Stain Test of stools. 2000 healthy children stools samples were included. Age groups were preterm’s, newborns, and infants between 1-4 and 5-12 months of age, 500 samples were collected for every group. The study was performed at the Hospital Universitario de los Andes, in Mérida-Venezuela, during years 1999 through 2009. The Sudan III Stain Test and the Saathoff reactive were employed, as well as a highpower objective lens. The number of large and medium fat drops by field was considered for the classification. This is a prospective, observational, randomized clinical trial. For the total number of children (53% males and 47% females) the average of evacuations per day showed a total of 3 times inthe newborns, from 2 to 3 times in the infants between 1-4 months of age and from 1 to 2 times in the infants between 5 and 12 months of age. The normal value of the Sudan III Stain Test of stools varies according to age: in preterm newborns this test shows an average of 5,4 drops (12-0) of fat per field, in full term newborns 7,9 drops (16-0), in infants from 0 to 4 months 4,3 drops (10-0) and in infants between 5 and 12 months 3,8 drops (6-0) of fat per field. Sudan III Stain Test guides in the diagnosis of steatorrhea in children, in patients with intestinal malabsorption syndrome and in the evaluation of the indication of pancreatic enzymes. This is a cheap, simple and easy technique .To know the normal values in the different pediatric age groups, allows to establish the presence of steatorrhea

Medical Treatment of Chronic Pancreatitis / 대한내과학회지

Chronic pancreatitis is an inflammatory disease characterized by the progressive destruction of pancreatic tissue and resulting in pancreatic exocrine and endocrine insufficiency. Although a lot of efforts have been made in managing chronic pancreatitis, treatment of chronic pancreatitis is still challenging and remains mostly empirical. Medical treatment of chronic pancreatitis focuses on chronic abdominal pain, pancreatic exocrine insufficiency and also pancreatic endocrine insufficiency. Chronic disabling abdominal pain is the main symptom of chronic pancreatitis, which could be managed by analgesics and non-enteric coated pancreatic enzymes as well as adjunctive agents such as antidepressants, duolexitine and pregabalin. Pancreatic exocrine insufficiency is commonly associated with weight loss, steatorrhea and malnutrition. Adequate pancreatic enzyme replacement therapy can significantly improve not only exocrine insufficiency related symptoms but also nutritional status. Several problems affecting the efficacy of pancreatic enzyme replacement can be avoided by the use of enteric-coated enzyme microspheres with or without proton pump inhibitors.

Pancreatitis crónica: nuevas terapias / Chronic pancreatitis: new therapies

Chronic pancreatitis occurs by the prolonged inflammation of pancreatic tissue that induces the irreversible destruction of the organ, leading to a global pancreatic insufficiency. The most common manifestations are abdominal pain, diarrhea, malabsorption, and possibly diabetes mellitus. Chronic pancreatitis treatment includes dietary restrictions, enzymatic supplementation, vitamins, and endoscopic or surgical methods depending on the degree of ductal involvement. In addition to the known therapies, new therapies are under development and research.

La pancreatitis crónica se desarrolla por la inflamación prolongada del tejido pancreático que induce la destrucción irreversible del órgano, llevando a una insuficiencia pancreática global. Las manifestaciones más frecuentes son dolor abdominal, diarrea, malabsorción y eventualmente diabetes mellitus. El tratamiento en pancreatitis crónica incluye restricciones dietarias, suplementación enzimática, vitamínica, y métodos endoscópicos o quirúrgicos, dependiendo del grado de compromiso ductal. Además de lo descrito, están en desarrollo y experimentación nuevas terapias.

Predisposing factors for nephrolithiasis and nephrocalcinosis in cystic fibrosis

Cystic fibrosis [CF] is characterized by chronic pulmonary disease, insufficient pancreatic and digestive function, and abnormal sweat concentration. There is controversy about predisposing factors of nephrolithiasis and nephrocalcinosis in patients with cystic fibrosis. We assessed the results of metabolic evaluation in patients with cystic fibrosis and its correlation with nephrocalcinosis. Forty five CF patients, mean age 47.1 months, were enrolled in the study. No one had past history of nephrolithiasis and/or nephrocalcinosis. The records were reviewed for clinical characteristics and all patients underwent metabolic evaluation including serum electrolyte measurements and spot urine analysis. Ultrasonography was performed in all patients to detect nephrocalcinosis and urolithiasis. Nephrocalcinosis was found in 5 [11%] patients. No patient had clinical symptoms of nephrolithiasis and/or micro/macroscopic hematuria. Metabolic evaluation of the CF patients versus normal reference values showed decreased serum uric acid in 48.8%, elevated serum phosphate in 24.4%, and urine oxalate excretion in 51%. Metabolic evaluation of the nephrocalcinosis positive patients versus nephrocalcinosis negative group showed no statistical difference in serum electrolytes. The mean value of urine calcium excretion was lower in patients with nephrocalcinosis [P=0.001]. Despite lack of any significant correlation, higher numerical hyperoxaluria was observed in patients with severe steatorrhea. There was no statistical correlation between steatorrhea and urine calcium as well as oxalate excretion. Hypocalciuria in the nephrocalcinotic CF patients may be seen. It can be hypothesized that hypocalciuria may be due to a primary defect in renal calcium metabolism in CF patients

Short bowel syndrome: a review of management options

Extensive resection of the intestinal tract frequently results in inadequate digestion and/or absorption of nutrients, a condition known as short bowel syndrome [SBS]. This challenging condition demands a dedicated multidisciplinary team effort to overcome the morbidity and mortality in these patients. With advances in critical care management, more and more patients survive the immediate morbidity of massive intestinal resection to present with SBS. Several therapies, including parenteral nutrition [PN], bowel rehabilitation and surgical procedures to reconstruct bowel have been used in these patients. Novel dietary approaches, pharmacotherapy and timely surgical interventions have all added to the improved outcome in these patients. However, these treatments only partially correct the underlying problem of reduced bowel function and have limited success resulting in 30% to 50% mortality rates. However, increasing experience and encouraging results of intestinal transplantation has added a new dimension to the management of SBS. Literature available on SBS is exhaustive but inconclusive. We conducted a review of scientific literature and electronic media with search terms 'short bowel syndrome, advances in SBS and SBS' and attempted to give a comprehensive account on this topic with emphasis on the recent advances in its management

Novel CFTR Mutations in a Korean Infant with Cystic Fibrosis and Pancreatic Insufficiency

Cystic fibrosis (CF) is an autosomal recessive disease that is very rare in Asians: only a few cases have been reported in Korea. We treated a female infant with CF who had steatorrhea and failure to thrive. Her sweat chloride concentration was 102.0 mM/L. Genetic analysis identified two novel mutations including a splice site mutation (c.1766+2T>C) and a frameshift mutation (c.3908dupA; Asn1303LysfsX6). Pancreatic enzyme replacement and fat-soluble vitamin supplementation enabled the patient to get a catch-up growth. This is the first report of a Korean patient with CF demonstrating pancreatic insufficiency. CF should therefore be considered in the differential diagnosis of infants with steatorrhea and failure to thrive.

Clinical Outcomes of Pancreaticoduodenectomy in Children

Pancreaticoduodenectomy is the treatment of choice for adult periampullary lesions. However there has been no studies on the clinical outcomes of pancreaticoduodenectomy in children. To evaluate the clinical outcomes, records of 13 patients who underwent pancreaticoduodenectomy, from 1989 to 2009, at Seoul National University Children's Hospital were reviewed. Mean follow up period was 83 (2-204) months, the male to female ratio was 1:3.3, and the mean age was 11 (2-14) years. Ten patients underwent PPPD and 3 patients had Whipple's operation. The postoperative diagnosis included solid pseudopapillary tumor (9), cavernous hemangioma (1), pseudocyst (1), benign cyst (1), pancreatic disruption (1). Two patients developed postoperative adhesive ileus and among them one patient required operative intervention. Four patients required pancreatin supplementation due to steatorrhea and other gastrointestinal symptoms. There were no postoperative mortality during the follow up period and no evidence of recurrence in SPT patients. This study demonstrates that the pancreaticoduodenectomy procedure in children is not only feasible but also safe, with no mortality and an acceptable complication rate.

A Case of Gastrointestinal Amyloidosis in Asymptomatic Multiple Myeloma

Amyloidosis is a disorder characterized by extracellular deposition of amyloid materials in multiple organs and tissues. Amyloidosis commonly shows a systemic involvement. Gastrointestinal involvement is common in amyloidosis and is usually asymptomatic. The gastrointestinal manifestations include gastroparesis, diarrhea, steatorrhea, constipation, intestinal pseudo-obstruction, and bleeding. The diagnosis of amyloidosis is difficult because there are absence of systemic symptoms and nonspecific endoscopic findings. Asymptomatic multiple myeloma is an asymptomatic plasma-cell proliferative disorder associated with a high risk of progression to symptomatic multiple myeloma or amyloidosis. Recently, we experienced a 60-year-old man who presented with hematochezia and weight loss as manifestations of gastrointestinal amyloidosis involving the stomach and the colon induced in asymptomatic multiple myeloma confirmed by endoscopic biopsies and bone marrow biopsy. We report a case with a review of the literature.

A Case of Gastrointestinal Amyloidosis in Asymptomatic Multiple Myeloma

Amyloidosis is a disorder characterized by extracellular deposition of amyloid materials in multiple organs and tissues. Amyloidosis commonly shows a systemic involvement. Gastrointestinal involvement is common in amyloidosis and is usually asymptomatic. The gastrointestinal manifestations include gastroparesis, diarrhea, steatorrhea, constipation, intestinal pseudo-obstruction, and bleeding. The diagnosis of amyloidosis is difficult because there are absence of systemic symptoms and nonspecific endoscopic findings. Asymptomatic multiple myeloma is an asymptomatic plasma-cell proliferative disorder associated with a high risk of progression to symptomatic multiple myeloma or amyloidosis. Recently, we experienced a 60-year-old man who presented with hematochezia and weight loss as manifestations of gastrointestinal amyloidosis involving the stomach and the colon induced in asymptomatic multiple myeloma confirmed by endoscopic biopsies and bone marrow biopsy. We report a case with a review of the literature.

¿Es la esteatorrea un hallazgo frecuente en pacientes con celiaquia en un hospital de tercer nivel de laciudad de La Paz? / Steatorrhea Is a common finding in patients with celiac disease in a tertiary level city of La Paz?

Pregunta de investigación: Cual será la frecuencia de esteatorrea asociada a celiaquia en pacientes que consultan por diarrea crónica en un Hospital de tercer nivel? Objetivo general: Conocer los aspectos epidemiologicos y clínicos de los pacientes con celiaquia. Objetivos especificos: 1.- Determinar la frecuencia de esteatorrea asociada a enfermedad celiaca.2.- Conocer la correlación del resultado de biopsias del duodeno y las pruebas serológicas especificas de la enfermedad.3.- Determinar la efi cacia del tratamiento dietético en pacientes portadores de esta entidad. Diseño: Serie de casos. Lugar: Instituto de Gastroenterología Boliviano –Japones de la ciudad de La Paz. Participantes Trece pacientes. Metodos: Se estudiaron trece pacientes, ocho mujeres y cinco varones, con un rango de edad de 37 a 68 años. Todos portadores de diarrea crónica.Se les determinó marcadores serológicos específi cos y se les realizó biopsias de duodeno distal. Todos fueron valorados con parâmetros antropométricos al inicio del diagnóstico y seis meses después se correlacionó la respuesta a la dieta sin gluten. Resultados: Los resultados mostraron que la esteatorrea no es el síntoma mas común, los marcadores serológicos de mayor representatividad sonlos anticuerpos antiendomisio y antitransglutaminasa, no así los antigliadina y las biopsias de duodeno demostraron lesiones infiltrativase hiperplasicas, no se evidenció ninguna lesión destructiva. La respuesta a la dieta sin gluten fue en todos los casos favorable y contundente.

Research question: ¿Is the steatorrea the most frecuent sintom in patients with celiac disease at the third level hospital in La Paz city? General objetivs; To identifi ty the epidemiological and clinical caracteristics in patients with celiac disease especific aims: 1.- To identifi ty the esteatorrea frecuency in patients with celiac disease at Instituto de Gastroenterologia Boliviano-Japones in La Paz city. 2.- To establish the correlation betwen the duodenal biopsys and serological test in this illnes.3.- To determine the effectiveness dietoterapic diet in this patients. Desig Serial cases. PlaceInstituto de Gastroenterologia Boliviano Japones at La Paz city. Participants Thirteen patients.Methods: We studied thirteen patients, eight female and fi ve male, 37 to 68 age. All the patients present cronic diarrea. In all we determinate serological marks and duodenal biopsys. We determined antropometric parameters and value the answer the diet without gluten. Results and discusionWe found the esteatorrea isn’t the most sign. The most specifi cal serologycal marks are antiendomisy and antitransglutamins antibodies. Respect to the duodenal biopsys show us infi ltrative and hiperplasic lesions. The diet answer without gluten was in all cases the best answer.

Osteomalacic myopathy associated with coexisting celiac disease and primary biliary cirrhosis

To report a patient with coeliac disease [CD] associated with primary biliary cirrhosis [PBC] who presented with myopathy without classical symptoms of CD. Clinical A 42-year-old woman presented with inability to walk and marked loss of motor function. She had elevated liver enzymes with a cholestatic pattern. Antimitochondrial antibody M2 band, anti-endomysial antibody, antigliadin IgA and IgM were positive. Histopathologic findings of the liver revealed PBC and duodenal biopsy was consistent with CD. She was also found to have osteomalacia. She showed slow response to gluten-free diet, but accelerated full recovery with vitamin D replacement. In PBC patients with subclinical CD and myopathy, vitamin D status can provide a basis for treatment