Tríada de Herbst: una presentación inusual de una patología común. Reporte de caso / Herbst Triad: A rare clinical manifestation of a common pathology

Resumen La tríada de Herbst es una manifestación inusual de la enfermedad por reflujo gastroesofágico y de otras patologías esofágicas. Se caracteriza por la presencia de anemia, acropaquias (hipocratismo digital) y enteropatía perdedora de proteínas. Al ser una condición anecdótica, la información disponible deriva de los reportes de caso. La fisiopatología aún no es clara. Se reporta el caso de una escolar, en quien se revierten los síntomas una vez se realiza el manejo quirúrgico.

Abstract The Herbst triad is a rare manifestation of gastroesophageal reflux disease and other esophageal pathologies. It is characterized by the presence of anemia, digital clubbing, and protein-losing enteropathy. Since evidence on this condition is anecdotal, the available information is mostly derived from case reports and its physiopathology remains unclear. The following is the case of a schoolchild, whose symptoms were reversed once she underwent surgery.

Enteropatia perdedora de proteína relacionada a criptococose: um diagnóstico diferencial de imunodeficiência secundária / Protein-losing enteropathy related to cryptococcosis: a differential diagnosis of secondary immunodeficiency

A criptococose é uma doença oportunista que ocorre com maior frequência em pacientes imunossuprimidos, ocasionando piora clínica e imunológica importante. Porém, é raro quando a doença ocorre em pacientes imunocompetentes. Relatamos aqui um caso de paciente previamente hígido que evoluiu com enteropatia perdedora de proteína, hipogamaglobulinemia secundária causada por criptococose disseminada.

Cryptococcosis is an opportunistic disease that occurs more frequently in immunosuppressed patients, causing important clinical and immunological deterioration. However, the disease rarely occurs in immunocompetent patients. We report a case of a previously healthy patient who progressed with protein-losing enteropathy, secondary hypogammaglobulinemia caused by disseminated cryptococcosis.

Linfangiectasia intestinal primaria: primer reporte de caso en Perú / Primary intestinal lymphangiectasia: first case report in Peru

La linfangiectasia intestinal primaria es una entidad clínica poco común de etiología desconocida. La edad típica de presentación de esta enfermedad es durante los 3 primeros años de vida, pero también se han reportado casos en adultos. Posee sintomatología variable, pero la manifestación clínica principal es el edema, puede presentarse también diarrea y pérdida de peso. La pérdida de fluido linfático en el tracto gastointestinal conlleva también a hipoproteinemia y linfopenia. El diagnóstico se establece en base a la clínica, a los estudios de laboratorio, al estudio endoscópico y se confirma con la evaluación histológica de la biopsia realizada. El manejo se da mediante una dieta rica en proteínas, baja en grasas y triglicéridos de cadena media. A continuación, se presenta el caso de un paciente varón de 1 año de edad que presenta edema generalizado, con predominio de miembros inferiores, y diarrea. Los exámenes de laboratorio muestran la presencia de hipoproteinemia marcada. Posteriormente, se realiza una endoscopía digestiva alta y una biopsia duodenal. El estudio histológico confirma el diagnóstico de linfangiectasia intestinal primaria. El paciente recibe el tratamiento establecido para esta enfermedad y, finalmente es dado de alta.

Primary intestinal lymphangiectasia is a rare clinical condition of unknown etiology. The common age of presentation is during the first 3 years of life, but cases in adults have also been reported. It has a variable symptomatology, but the main clinical manifestation is edema, also diarrhea and weight loss can occur. The loss of lymph fluid into the gastrointestinal tract also leads to hypoproteinemia and lymphopenia. Diagnosis is based on clinical manifestations, laboratory and endoscopic findings, and is confirmed on histopathological examination of biopsy. The main treatment is a protein rich, low in fat and medium chain triglyceride diet. We present the case of a 1-year-old male patient who presents with generalized edema, predominantly in lower limbs, and diarrhea. Laboratory findings show the presence of marked hypoproteinemia. Then an endoscopy and a duodenal biopsy are performed, and the histopathological study confirms the diagnosis of primary intestinal lymphangiectasia. The patient is treated and after a satisfactory evolution, is discharged.

Resolution of Protein-Losing Enteropathy after Congenital Heart Disease Repair by Selective Lymphatic Embolization / 대한소아소화기영양학회지

With improving survival of children with complex congenital heart disease (CCHD), postoperative complications, like protein-losing enteropathy (PLE) are increasingly encountered. A 3-year-old girl with surgically corrected CCHD (ventricular inversion/L-transposition of the great arteries, ventricular septal defect, pulmonary atresia, post-double switch procedure [Rastelli and Glenn]) developed chylothoraces. She was treated with pleurodesis, thoracic duct ligation and subsequently developed chylous ascites and PLE (serum albumin ≤0.9 g/dL) and was malnourished, despite nutritional rehabilitation. Lymphangioscintigraphy/single-photon emission computed tomography showed lymphatic obstruction at the cisterna chyli level. A segmental chyle leak and chylous lymphangiectasia were confirmed by gastrointestinal endoscopy, magnetic resonance (MR) enterography, and MR lymphangiography. Selective glue embolization of leaking intestinal lymphatic trunks led to prompt reversal of PLE. Serum albumin level and weight gain markedly improved and have been maintained for over 3 years. Selective interventional embolization reversed this devastating lymphatic complication of surgically corrected CCHD.

Ménétrier’s Disease as a Gastrointestinal Manifestation of Active Cytomegalovirus Infection in a 22-Month-Old Boy: A Case Report with a Review of the Literature of Korean Pediatric Cases

Ménétrier’s disease (MD), which is characterized by hypertrophic gastric folds and foveolar cell hyperplasia, is the most common gastrointestinal (GI) cause of protein-losing enteropathy (PLE). The clinical course of MD in childhood differs from that in adults and has often been reported to be associated with cytomegalovirus (CMV) infection. We present a case of a previously healthy 22-month-old boy presenting with PLE, who was initially suspected to have an eosinophilic GI disorder. However, he was eventually confirmed, by detection of CMV DNA using polymerase chain reaction (PCR) with gastric tissue, to have MD associated with an active CMV infection. We suggest that endoscopic and pathological evaluation is necessary for the differential diagnosis of MD. In addition, CMV DNA detection using PCR analysis of biopsy tissue is recommended to confirm the etiologic agent of MD regardless of the patient’s age or immune status.

Síndrome de desregulação imune, poliendocrinopatia e enteropatia ligada ao X (IPEX): a importância da história familiar para o diagnóstico precoce / Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: the importance of family history for early diagnosis

A síndrome de desregulação imune, poliendocrinopatia e enteropatia ligada ao X (IPEX) é uma síndrome de imunodeficiência primária rara, de herança recessiva, que afeta lactentes do sexo masculino. A doença cursa com enteropatia perdedora de proteínas, dermatite eczematosa e poliendocrinopatias, podendo ser fatal naqueles sem tratamento apropriado. O objetivo deste relato é descrever um caso de IPEX, enfatizando a importância da história familiar para o diagnóstico precoce. O caso descreve um lactente com tipo grave da síndrome, com apresentação clínica precoce e história familiar característica, com episódios de morte prematura em doze homens pertencentes à linhagem materna. O diagnóstico por mapeamento genético demostrando mutação no gene FOXP3 foi obtido após o óbito do paciente, decorrente de choque séptico. O transplante de células-tronco hematopoiéticas é o melhor tratamento disponível, e na sua ausência, a síndrome IPEX pode ser fatal nos primeiros dois anos de vida. Assim, assegurar um diagnóstico precoce é fundamental.

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare recessive primary immunodeficiency syndrome that affects male infants. The disease course is characterized by protein-losing enteropathy, eczematous dermatitis, and polyendocrinopathies, and may be fatal if not appropriately treated. The aim of this report was to describe a case of IPEX, emphasizing the importance of family history for early diagnosis. The case describes an infant with a severe manifestation of the syndrome, with early clinical presentation and characteristic family history, with episodes of premature death affecting 12 men belonging to the mother's lineage. Diagnosis was established by genetic mapping after the patient's death due to septic shock; a mutation in the FOXP3 gene was found. Hematopoietic stem cell transplantation is the best treatment available; in its absence, the IPEX syndrome can be fatal in the first 2 years of life. Therefore, ensuring early diagnosis is critical.

Protein-Losing Enteropathy as a Complication of the Ketogenic Diet

The ketogenic diet is an effective treatment for the patients with intractable epilepsy, however, the diet therapy can sometimes be discontinued by complications. Protein–losing enteropathy is a rarely reported serious complication of the ketogenic diet. We present a 16-month-old Down syndrome baby with protein-losing enteropathy during the ketogenic diet as a treatment for West syndrome. He suffered from diarrhea, general edema and hypoalbuminemia which were not controlled by conservative care for over 1 month. Esophagogastroduodenoscopy and stool alpha-1 antitrypsin indicated protein-losing enteropathy. Related symptoms were relieved after cessation of the ketogenic diet. Unexplained hypoalbuminemia combined with edema and diarrhea during ketogenic suggests the possibility of protein-losing enteropathy, and proper evaluation is recommended in order to expeditiously detect it and to act accordingly.

Disseminated Cytomegalovirus Infection and Protein Losing Enteropathy as Presenting Feature of Pediatric Patient with Crohn's Disease / 대한소아소화기영양학회지

We report a pediatric patient admitted with abdominal pain, diffuse lower extremity edema and watery diarrhea for two months. Laboratory findings including complete blood count, serum albumin, lipid and immunoglobulin levels were compatible with protein losing enteropathy. Colonoscopic examination revealed diffuse ulcers with smooth raised edge (like "punched out holes") in the colon and terminal ileum. Histopathological examination showed active colitis, ulcerations and inclusion bodies. Immunostaining for cytomegalovirus was positive. Despite supportive management, antiviral therapy, the clinical condition of the patient worsened and developed disseminated cytomegalovirus infection and the patient died. Protein losing enteropathy and disseminated cytomegalovirus infection a presenting of feature in steroid-naive patient with inflammatory bowel disease is very rare. Hypogammaglobulinemia associated with protein losing enteropathy in Crohn's disease may predispose the cytomegalovirus infection in previously healthy children.

Factors related to outcomes in lupus-related protein-losing enteropathy

BACKGROUND/AIMS: Protein-losing enteropathy (PLE), characterized by severe hypoalbuminemia and peripheral edema, is a rare manifestation of systemic lupus erythematosus. This present study aimed to identify the distinctive features of lupus-related PLE and evaluate the factors related to the treatment response. METHODS: From March 1998 to March 2014, the clinical data of 14 patients with lupus PLE and seven patients with idiopathic PLE from a tertiary center were reviewed. PLE was defined as a demonstration of protein leakage from the gastrointestinal tract by either technetium 99m-labelled human albumin scanning or fecal alpha1-antitrypsin clearance. A positive steroid response was defined as a return of serum albumin to > or = 3.0 g/dL within 4 weeks after initial steroid monotherapy, and remission as maintenance of serum albumin > or = 3.0 g/dL for at least 3 months. A high serum total cholesterol level was defined as a level of > or = 240 mg/dL. RESULTS: The mean age of the lupus-related PLE patients was 37.0 years, and the mean follow-up duration was 55.8 months. Significantly higher erythrocyte sedimentation rate and serum total cholesterol levels were found for lupus PLE than for idiopathic PLE. Among the 14 patients with lupus PLE, eight experienced a positive steroid response, and the serum total cholesterol level was significantly higher in the positive steroid response group. A positive steroid response was associated with an initial high serum total cholesterol level and achievement of remission within 6 months. CONCLUSIONS: In lupus-related PLE, a high serum total cholesterol level could be a predictive factor for the initial steroid response, indicating a good response to steroid therapy alone.

An analysis of seven cases of intestinal lymphangiectasia complicated by portal vein hypertension / 中华消化杂志

Objective To investigate the incidence,diagnosis,treatment and prognosis of abnormal lymphatic vessels in intestinal lymphangiectasia (IL) patients complicated by portal vein hypertension.Methods General information,clinical manifestations,laboratory tests,endoscopy and pathological examination,the results of direct and nuclide lymphangiography,treatment and prognosis of seven IL patients complicated by portal vein hypertension were retrospective analyzed.Results Among seven IL patients complicated by portal vein hypertension,there were five cases with abnormal lymphatic vessels and two cases were merely secondary to portal vein hypertension.The main symptoms were edema,abdominal distension and diarrhea.The results of laboratory tests mainly were lymphocytopenia (0.3× 109 to 1.7 × 109/L),hypoalbuminemia (16.0 to 27.8g/L) and hypoglobulinemia (13.2 to 17.7 g/L).Under endoscope,mucosal edema,chronic inflammatory reaction,intestinal villi spot and patched white nodular changes and polyp-like changes appeared.For treatment,the low-fat with medium-chain triglyceride diet and symptomatic support was the basic treatment.The condition could be relieved by surgical remission of abnormal lymphatic vessels or partial small-bowel resection.If the etiological factors could not be removed,the therapeutic effect was poor in the patients merely secondary to portal vein hypertension.Conclusion The suspicious IL patients complicated by portal vein hypertension need further examination to explore whether abnormal lymphatic vessels existed,and to provide evidence for surgical intervention.

Enteropatia perdedora de proteínas no lúpus eritematoso sistêmico: relato de caso / Protein-losing enteropathy in systemic lupus erythematosus: case report

A enteropatia perdedora de proteínas raramente pode ser observada em pacientes com lúpus eritematoso sistêmico. Essa situação clínica deve ser suspeitada quando houver hipoalbuminemia persistente, na presença de uma função hepática preservada, ingesta proteica adequada e ausência de proteinúria significativa. Descrevemos o caso de uma paciente de 48 anos com perda ponderal, derrames cavitários (ascite e derrame pleural) e edema de membros inferiores. O diagnóstico de lúpus foi firmado a partir da presença de linfopenia, proteinúria, FAN e autoanticorpos positivos (anti-Sm, anti-DNA e anti-Ro). Houve persistência de hipoalbuminemia mesmo com corticoterapia na dose de 1 mg/kg de peso, sendo diagnosticada enteropatia perdedora de proteínas por meio da cintilografia com albumina 99mTc. A melhora clínica e laboratorial da paciente veio após a associação da azatioprina com corticosteroide.

Protein-losing enteropathy is rarely seen in patients with systemic lupus erythematosus. This clinical condition should be suspected in the presence of persistent hypoalbuminemia despite normal liver function, adequate protein intake, and no significant proteinuria. We report the case of a 48-year-old female with weight loss, cavity effusions (ascites and pleural effusion), and lower extremity edema. The diagnosis of lupus was established based on the presence of lymphopenia, proteinuria, ANA, and positive autoantibodies (anti-Sm, anti-DNA, and anti-Ro). Because hypoalbuminemia persisted even with corticosteroid therapy at the dose of 1 mg/kg, protein-losing enteropathy was diagnosed by use of Tc-99m albumin scintigraphy. After adding azathioprine to the treatment, the symptoms subsided and serum albumin levels improved.

A case of cytomegalovirus-negative Menetrier's disease with eosinophilia in a child / 소아과

Menetrier's disease is a rare form of acquired gastropathy characterized by giant rugal folds in the stomach and protein-losing gastropathy. Children with Menetrier's disease tend to follow a benign self-limited course with symptoms typically completely resolving within 2 to 10 weeks in contrast to the chronic course in adults. A 9-year-old girl presented with a history of gradually worsening abdominal distension, increasing body weight, and abdominal pain for 2 weeks. Physical examination on admission indicated periorbital swelling, pitting edema in both the legs, and abdominal distension with mild diffuse tenderness and shifting dullness. Laboratory tests on admission showed hypoalbuminemia, hypoproteinemia, and peripheral eosinophilia. The test result for anticytomegalovirus immunoglobulin M was negative. Increased fecal alpha 1 anti-trypsin excretion was observed. Radiological findings showed massive ascites and pleural effusion in both the lungs. On gastroscopy, large gastric folds, erythema, erosion, and exudation were noted in the body and fundus of the stomach. Microscopic findings showed infiltration of eosinophils and neutrophils in the gastric mucosa. Her symptoms improved with conservative treatment from day 7 of hospitalization and resolved completely.

A Case of Acute Lymphoblastic Leukemia Presenting with Protein-Losing Enteropathy / 대한소화기학회지

Protein-losing enteropathy (PLE) is a syndrome characterized by excessive gastrointestinal protein loss, resulting in hypoproteinemia and edema. A variety of benign and malignant conditions can be associated with PLE and acute leukemia is a very rare cause of PLE. We report a case of PLE associated with acute lymphoblastic leukemia. A 27-year-old man was admitted due to watery diarrhea, epigastric pain and bilateral leg edema. Laboratory findings showed hypoproteinemia and polycythemia. The diagnosis of PLE and acute lymphoblastic leukemia were confirmed on the measurement of fecal alpha1-antitrypsin clearance and bone marrow examination. After systemic chemotherapy and autologous stem cell transplantation, his clinical symptoms and abnormal laboratory findings were gradually improved.

Implante de stents em conduto cirúrgico cavopulmonar: relato de dois casos / Stent implantation in surgical cavopulmonary conduit: report of two cases / Implante de stents en conducto quirúrgico cavopulmonar: dos casos clínicos

Apesar dos avanços na cirurgia de Fontan, obstruções nos condutos extracardíacos podem ocorrer e causar deterioração clínica. Relatamos dois casos em que foram realizados implante de stent para correção de estenose na cirurgia de Fontan. Ascite era o sinal clínico comum; um paciente tinha enteropatia perdedora de proteínas.Todos os procedimentos obtiveram sucesso angiográfico e clínico.

Despite advances in Fontan surgery, obstruction in extracardiac ducts may occur and cause clinical deterioration. We report two cases of stent implantation for correction of stenosis in the Fontan surgery. Ascites was a common clinical sign; a patient was protein losing enteropathy. All procedures were angiographically and clinically successful.

Pese a los avances en la cirugía de Fontan, obstrucciones en los conductos extracardíacos pueden producirse y ocasionar deterioro clínico. Relatamos dos casos en que se llevaron a cabo implante de stent para la corrección de estenosis en la cirugía de Fontan. Ascitis era o el signo clínico común; un paciente tenía enteropatía perdedora de proteínas. Todos los procedimientos obtuvieron éxito angiográfico y clínico.

A clinical analysis of 61 cases of protein-losing enteropathy / 中华内科杂志

Objective To increase the understanding in protein-losing enteropathy (PLE).Methods Sixty-one PLE patients were enrolled in the study and the clinical characteristics, complicated disease, diagnosis and treatment were analyzed. Results The age of the patients was 16-77 (40±15)years, and the gender ratio was 35:26 (female: male). The main clinical manifestations were bilateral lower limb edema in 51 cases, ascites in 41 cases, bilateral pleural effusion in 23 cases, pericardial effusion in 13cases, abdominal pain in 16 cases and diarrhea in 33 cases. The prominent abnormality in laboratory examinations was hypoalbuminemia. The underlying diseases include systemic lupus erythematosus (SLE) in 28 cases, intestinal lymphangiectasia in 12 cases, hepatic cirrhosis in 5 cases, heart diseases in 5 cases,Crohn's disease in 3 cases, membranous nephropathy in 2 cases, Budd-Chiari syndrome in 1 case. Four cases happened after abdominal operation and 1 case after radiation therapy of gastric cardia cancer. Thirtyseven cases were diagnosed by 99Tcm-labelled human serum albumin scintigraphy and 24 cases were diagnosed clinically. Treatment was focused on underlying diseases. The clinical manifestations in 21 cases of SLE improved after SLE was controlled. In 2 cases of intestinal lymphangiectasia and one with Crohn's disease, the clinical manifestations improved after surgery. The other patients had no improvement.Conclusions PLE was not uncommon in clinical practice. Its predominant characteristics were severe hypoalbuminemia, edema and dropsy of serous cavity. PLE can complicate other diseases such as SLE,intestinal lymphangiectasia. Treatment should be focused on primary disease.

Associação de bronquite plástica com enteropatia perdedora de proteínas após operação de Fontan / Association of plastic bronchitis to protein-losing enteropathy after fontan operation

Relatamos um caso incomum de associação de bronquite plástica (BP) com enteropatia perdedora de proteínas (EPP) em menina de 4 anos e 9 meses de idade. com dupla via de entrada de ventrículo único tipo esquerdo e concordância ventrículo-arterial submetida à cirurgia cavopulmonar total. com túnel lateral intracardíaco aos três anos. Tornaram-se chamativas a eliminação de molde brônquico de fibrina de 10 cm (BP) e a elevação de alfa-1-antitripsina de 52 mg/g de fezes. Em uso de sildenafila. programou-se. em caso de continuidade do processo. a ligadura do ducto torácico e transplante cardíaco.

We report an unusual case of association of plastic bronchitis (PB) to protein-losing enteropathy (PLE) in a girl of 4 years and 9 months of age with double inlet single left ventricle and ventriculoarterial concordance. submitted to total cavopulmonary surgery. with an intracardiac lateral tunnel at the age of three. The elimination of the 10 cm fibrin bronchial mold (PB) and the alpha-1-antitrypsin elevation of 52 mg/g in feces had both become outstanding. Using sildenafil. the thoracic duct ligature and the cardiac transplant were programmed in case of continuity of the process.

Successful Treatment of Protein-Losing Enteropathy Induced by Intestinal Lymphangiectasia in a Liver Cirrhosis Patient with Octreotide: A Case Report

A 47-yr-old man with hepatitis B virus associated liver cirrhosis was admitted to our hospital with diarrhea and generalized edema and diagnosed as protein-losing enteropathy due to intestinal lymphangiectasia by intestinal biopsy and 99mTc albumin scan. During hospitalization, he received subcutaneous octreotide therapy. After 2 weeks of octreotide therapy, follow-up albumin scan showed no albumin leakage, and the serum albumin level was sustained. We speculate that liver cirrhosis can be a cause of intestinal lymphangiectasia and administration of octreotide should be considered for patients with intestinal lymphangiectasia whose clinical and biochemical abnormalities do not respond to a low-fat diet.