A case of ischemic stroke associated with protein-losing gastroenteropathy and protein S deficiency.

Protein-losing gastroenteropathies are characterized by an excessive loss of serum proteins into the gastrointestinal tract, resulting in hypoalbuminemia. Some rare cases are complicated with ischemic stroke. We report a 24-year-old woman who developed acute dysarthria and right hemiplegia 4 months after delivering her first baby by cesarean section. Diffusion-weighted magnetic resonance imaging showed a high-intensity signal in the left anterior cerebral artery territory and middle cerebral artery territory. She had marked hypoalbuminemia and decreased protein S activity. We identified protein-losing gastroenteropathy as the cause of the hypoalbuminemia, and she had a missense mutation of the PROS 1 gene, which was associated with decreased protein S activity. We speculated that the development of protein-losing gastroenteropathy accelerated the decline in protein S activity and caused cerebral infarction.

Protein-losing gastroenteropathy complicated with asymptomatic primary biliary cholangitis, refractory to immunosuppressant, and improved by Helicobacter pylori eradication: a case report.

BACKGROUND: Protein-losing gastroenteropathy (PLGE) is a syndrome with a chief complaint of hypoalbuminemia, which occurs due to plasma protein leakage in the gastrointestinal tract, leading to general edema, ascites, and pleural effusions. CASE PRESENTATION: A 71-year-old woman visited another hospital for evaluation of hypoalbuminemia and systemic edema. She was hospitalized for a close inspection of hypoalbuminemia and was diagnosed with PLGE. Steroid and azathioprine therapy was prescribed; however, hypoalbuminemia did not improve, and the patient's condition worsened due to anasarca. As hospitalization was prolonged, the patient was transferred to our hospital. She was infected with Helicobacter pylori, and we performed H. pylori eradication. Following H. pylori eradication, her edema improved remarkably. CONCLUSION: We present the first case wherein H. pylori eradication successfully improved protein leakage in the lower gastrointestinal tract in a patient diagnosed with PLGE complicated with refractory to immunosuppressant treatment. H. pylori eradication should be considered in patients with PLGE complicated with H. pylori infection, without specific endoscopic finding or refractory to immunosuppressants.

Sjögren's syndrome associated with protein losing gastroenteropathy manifested by intestinal lymphangiectasia successfully treated with prednisolone and hydroxychloroquine.

Protein-losing gastroenteropathy (PLGE), a rare manifestation of primary Sjögren's syndrome (SS), is characterized by profound edema and severe hypoalbuminemia secondary to excessive serum protein loss from the gastrointestinal tract and is clinically indistinguishable from nephrotic syndrome. We report a case of a 30-year-old Taiwanese woman with PLGE-associated SS. In addition to a positive Schirmer's test, she had eye-dryness, thirst, and high levels of anti-SSA antibodies, fulfilling SS criteria. PLGE diagnosis was highly appropriate given the clinical profile of hypoalbuminemia, hypercholesterolemia, pleural effusion, and ascites, with absent cardiac, hepatic, or renal disease. We were unable to perform technetium-99 m-labeled human serum albumin scintigraphy ((99m)Tc-HAS). However, the patient's edema and albumin level improved dramatically in response to a 3-month regime of oral prednisolone followed by oral hydroxychloroquine.

Juvenile polyposis syndrome with gastric and duodenal polyposis presenting with refractory anemia and protein-leakage gastroenteropathy in a patient with SMAD4 mutation: a case report.

BACKGROUND: Juvenile polyposis syndrome (JPS) is an autosomal dominant, inherited disorder characterized by multiple hyperproliferative polyps of the gastrointestinal tract, particularly of the colon, rectum, and stomach. SMAD4 mutations are frequently associated with multiple polyposis of the stomach; the condition causes severe bleeding and hypoproteinemia, which may progress to severe dysplasia and adenocarcinoma formation. We report our experience with the first case of total gastrectomy with pancreaticoduodenectomy following two partial jejunectomies for JPS, who presented with refractory anemia and protein-losing gastroenteropathy due to polyposis of the stomach and duodenum. CASE PRESENTATION: A 33-year-old Japanese man presented with the chief complaint of shortness of breath on exertion. His family history included gastric polyposis (mother, aunt, and cousin) and cerebral infarction (grandmother). Blood testing at the initial visit indicated iron-deficiency anemia, whereas endoscopy revealed multiple polyps in the duodenum and jejunum. Genetic testing revealed a 4 bp deletion (TGAA) in exon 5 of the SMAD4 gene; two partial small bowel resections were performed, but polyps grew in the remaining stomach, duodenum, and small intestine. The patient developed hypoalbuminemia and anemia, and required central venous nutrition and blood transfusion. However, because the hyponutrition and anemia remained poorly controlled, a total gastrectomy with concomitant pancreaticoduodenectomy was performed. Malnutrition and anemia improved, and there was no polyp recurrence in the remaining intestinal tract at 18 months after the surgery. CONCLUSIONS: We report a case of JPS with refractory anemia and protein-losing gastroenteropathy that was treated with total gastrectomy with concomitant pancreaticoduodenectomy. Although the surgery was highly invasive, the patient's nutritional status and anemia improved postoperatively, and the treatment was successful. However, to determine the appropriate surgical procedure, a detailed examination of the gastrointestinal lesions and the effects of the surgical invasion on nutritional status must be undertaken.

Successful Prompt Diagnosis of Strongyloidiasis in an Outpatient Setting at Amami Oshima Island in Japan: A Case Report.

Strongyloidiasis is a parasitic infection caused by the nematode Strongyloides stercoralis that presents with a variety of nonspecific symptoms. Diagnosis is challenging unless physicians suspect this disease and perform sensitivity tests. We report a case of strongyloidiasis with protein-losing gastroenteropathy-like symptoms in a 92-year-old Japanese female with lower extremity edema and hypoalbuminemia. In this case, the patient refused invasive tests for a complete examination; however, an agar plate culture of a stool sample was used to diagnose strongyloidiasis. The patient was treated with ivermectin during the second visit. One month later, leg edema and hypoproteinemia improved. When the cause of the symptoms is unclear, physicians should be aware of the possibility of strongyloidiasis in a person residing in a tropical or subtropical environment, where human feces are used as fertilizer and individuals frequently go barefoot in agricultural settings.

Home parenteral nutrition a life-saving therapy in a primary intestinal lymphangiectasia patient affecting the entire GI tract - 3 year follow-up case report.

INTRODUCTION AND IMPORTANCE: Primary intestinal lymphangiectasia (PIL) is a rare protein-losing gastroenteropathy of unknown etiology, characterized by impaired lymphatic vessels drainage. The pathological changes in PIL result in usually localized or diffuse dilatation of intestinal lacteals, leading to leakage of lymphatic fluid rich of proteins, lymphocytes, and immunoglobulins into the intestinal lumen. PIL may be asymptomatic or mildly symptomatic in moderate forms of the disease. In some patients, though, the outcome may be poor or even life-threatening. This case report demonstrates the severity of protein malnutrition, in some cases, and the extent of GI tract affected, requiring to start PN early and the need for its continuation as home parenteral nutrition (HPN). CASE PRESENTATION: We present a case of 39-year-old male with Factor V Leiden deficiency, who presented initially with symptoms of malnutrition and anasarca. The diagnosis was confirmed by histopathological findings pathognomonic for PIL from biopsies of the stomach, small intestine and colon. CLINICAL DISCUSSION: The patient was started on low fat, high protein parenteral nutrition from the beginning of the treatment and required a long-term HPN for 3 years, because trials of tapering off and discontinuation of PN led to worsening of the biochemical results and recurrence of symptoms. Patient gradually improved and stabilized with persistent nutritional support. CONCLUSIONS: The presented case report shows the magnitude of nutritional support (HPN) needed for severe PIL patients. HPN offers PIL patients with poor outcome and life-threatening complications a chance to improve and lead a normal life.

99mTc-HSA-DTPA Scintigraphy of Protein-Losing Gastroenteropathy Associated with Mixed Connective Tissue Disease Before and After Immunosuppressive Therapy.

We present a female in her sixties with mixed connective tissue disease who underwent 99mTc-human serum albumin diethylenetriaminepentaacetic acid (99mTc-HSA-DTPA) scintigraphy to clarify the cause of generalized edema. Scintigraphy findings directed the diagnosis to protein-losing gastroenteropathy. Various disorders are known to be associated with protein-losing gastroenteropathy; however, mixed connective tissue disease is a rare cause. 99mTc-HSA-DTPA scintigraphy is helpful in the diagnosis and following the response to therapy of protein-losing gastroenteropathy.

A case of severe choroidal detachment in both eyes due to systemic lupus erythematosus.

PURPOSE: We report a case of severe choroidal detachments (CDs) in both eyes caused by systemic lupus erythematosus (SLE). OBSERVATIONS: The patient was a 50-year-old woman who presented with conjunctival edema in both eyes, visual dysfunction, and generalized fatigue. At the first visit, the best corrected visual acuity (BCVA) was 20/70 OD and 20/70 OS, and the intraocular pressure (IOP) was 22 mmHg OD and 27 mmHg OS. She had serous retinal detachments (SRDs), CDs, ciliary dissections, and a shallow anterior chamber with partial angle closure in both eyes. Systemic findings included hypoalbuminemia, pleural fluid, generalized fatigue, and brown papules on the back and both legs. First, we suspected Vogt-Koyanagi-Harada disease and administered two courses of methylprednisolone pulse therapy, but the CDs in both eyes gradually deteriorated and worsened to the extent that the optic nerve in both eyes could not be observed, and the BCVA deteriorated to 20/200 OD and 6/200 OS. Further multidisciplinary evaluations for diagnosing collagen diseases revealed vasculitis in the skin histopathology examination, positive results for anti-double stranded DNA antibody and anti-SS-A antibody, and hypocomplementemia in the blood examination, and she was diagnosed with severe SLE in the dermatology department. After administration of high dose intravenous γ-globulin therapy, albumin infusion, and intravenous cyclophosphamide pulse therapy, the SRDs and severe CDs improved along with improvement in hypoalbuminemia, pleural fluid, and generalized fatigue. Moreover, the shallow anterior chamber and high IOP improved to normal in both eyes. The CDs and SRDs completely disappeared, and the BCVA improved to 20/13 OU 6 months after the SLE therapy. CONCLUSION AND IMPORTANCE: In patients with observed SRDs and CDs accompanying hypoalbuminemia, it is necessary to consider collagen diseases such as SLE.

Protein-losing gastroenteropathy with severe hypoalbuminemia associated with Sjögren's syndrome: A case report and review of the literature.

A 30-year-old man with severe hypoalbuminemia (serum albumin: 0.9 g/dL) was admitted with severe bilateral leg edema and unilateral pleural effusion. Serum anti-SS-A and SS-B antibody levels were abnormally elevated, and his symptoms fulfilled the diagnostic criteria for Sjögren's syndrome. Technetium-99m albumin scintigraphy revealed protein leakage from a large area of the small intestine. Immunohistochemistry revealed perivascular deposition of C1q, C3d, and immunoglobulin G in the duodenal mucosa. The patient was diagnosed with protein-losing gastroenteropathy associated with Sjögren's syndrome. Within 2 months of treatment with oral prednisolone and mycophenolate mofetil, the clinical symptoms of hypoalbuminemia and Sjögren's syndrome disappeared completely.

Protein-losing gastroenteropathy in a patient with concomitant systemic lupus erythematosus and Sjögren's syndrome.

We report a female in her twenties who developed generalized edema. She was diagnosed as systemic lupus erythematous (SLE) and Sjögren's syndrome (SS) based on her physical manifestations and positive findings for antinuclear antibody and anti-SS-A/SS-B-antibody. Although she manifested hypoproteinemia, a possibility of lupus nephritis was denied due to a lack of significant abnormality in kidney function tests and urinalysis. The nature of hypoproteinemia and related symptoms was identified as protein losing gastroenteropathy (PLGE) based on α 1-antitrypsin clearance and histopathology findings. Physicians should be aware that PLGE may develop as an underlying cause of edema in SLE and SS.

Sjögren's syndrome concurrent with protein-losing gastroenteropathy with secondary systemic capillary leak syndrome : A case report.

Sjögren's syndrome concurrent with protein-losing gastroenteropathy can develop into secondary systemic capillary leak syndrome. Thus, it is important to diagnose the condition as soon as possible and simultaneously administer treatment for Sjögren's syndrome, protein-losing gastroenteropathy, and systemic capillary leak syndrome.

Protein-losing Gastroenteropathy Related to Mixed Connective Tissue Disease: A Case Report of a Successful Outcome and Literature Review.

We herein report the case of a 44-year-old woman who developed protein-losing gastroenteropathy (PLGE) with hypoalbuminemia as the first manifestation of mixed connective tissue disease (MCTD). Albumin leakage from the stomach and intestinal tract was demonstrated by 99mTc-labeled human serum albumin scintigraphy. The patient's response to prednisolone therapy was insufficient; therefore, additional cyclosporin A (CsA) treatment was administered, and clinical remission was achieved. We concluded that although PLGE is a rare complication of MCTD, it may manifest as an initial clinical episode of MCTD. Furthermore, CsA can be a useful treatment option for refractory PLGE related to MCTD.

[Ménétriers disease associated with cytomegalovirus infection]. / Enfermedad de Ménétrier asociada a infección por citomegalovirus.

Menetrier's disease is a rare entity in children, characterized by a protein-losing gastroenteropathy with thickening of the gastric mucosa and generalized edema. The most common etiology is viral, and cytomegalovirus is the agent most frequently implicated. Unlike in the adult, it is a self-limited disorder with a good prognosis in children. Four patients (three boys and one girl) diagnosed with Ménétrier disease in the past five years were reviewed. The mean age at presentation was 28.7 months (range: 10-48 months). The most common clinical symptoms were fever, vomiting, and edema. Endoscopy showed thickened gastric folds and erosions in several stages. All patients had an associated gastric cytomegalovirus infection, and a favorable outcome, with resolution of the disorder,was observed within a few weeks.

A Patient with a Large Gastric Tumor and Protein-Losing Gastroenteropathy Successfully Treated with Neoadjuvant TS-1 Combined with CDDP Therapy.

Gastric cancer with protein-losing gastroenteropathy is relatively rare worldwide. The most important problem for the treatment of these patients is their low nutritional status and protein level, which can cause severe postoperative complications. We report a 49-year-old Japanese female with a large gastric tumor and protein-losing gastroenteropathy successfully treated with neoadjuvant TS-1 combined with CDDP therapy. She had a type 5 tumor with partially cauliflower-like appearance. Her blood chemistry revealed low serum total protein (3.3 g/dl) and low albumin (1.7 g/dl). She was additionally diagnosed with protein-losing gastroenteropathy based on (99m)Tc-human serum albumin scintigraphy. Initial neoadjuvant chemotherapy decreased the size of the tumor and led to a marked improvement in her serum protein levels. She then underwent a total gastrectomy and lymph node dissection (D2) with a combined resection of the spleen and gallbladder. Therefore, neoadjuvant chemotherapy may provide a safe treatment before definitive surgery for gastric cancer with protein-losing gastroenteropathy.

Enfermedad de Ménétrier en niños: reporte de dos casos / Two cases of Menétrier's disease in children

Resumen Se presentan 2 casos de enfermedad de Ménétrier (EM) remitidos a nuestra institución por síndrome edematoso. Esta enfermedad de poca prevalencia es una gastropatía hipertrófica perdedora de proteínas que en la mayoría de los casos es de causa desconocida, aunque se ha asociado con procesos infecciosos. Se caracteriza por edema, hipoproteinemia, hipoalbuminemia y, en la infancia, es de carácter benigno y autolimitado.

Abstract We present two cases of Menétrier's Disease (MS) referred to our institution due to edema. The prevalence of this disease is low. It is a hypertrophic gastropathy which causes loss of proteins and which has unknown causes in the majority of cases although it has been associated with infectious processes. It is characterized by edema, hypoproteinemia, hypoalbuminemia. In childhood it is benign and self-limited.

Successful treatment of protein-losing gastroenteropathy with steroid pulse and immunosuppressive therapies in a patient with sjögren syndrome.

We report the case of a 59-year-old female who developed facial edema together with hypoproteinemia. On the basis of (99m)Tc-human serum albumin scintigraphy and a1-antitrypsin clearance, she was diagnosed with protein-losing gastroenteropathy. Furthermore, she was diagnosed with Sjögren syndrome on the basis of eye and oral dryness, positive result with anti-SSA antibody, and salivary gland biopsy. Her symptoms improved with the use of immunosuppressive agents following steroid pulse therapy. Therefore, steroid pulse therapy and immunosuppressive agents should be considered as possible effective treatment strategies for protein-losing gastroenteropathy associated with autoimmune diseases.

Gastroenteropatía perdedora de proteínas y posible relación con una infección por citomegalovirus: Presentación de un caso de enfermedad de Ménétrier infantil / Protein losing gastroenteropathy and possible relationship to cytomegalovirus infection: Ménétrier disease in a child

La enfermedad de Ménétrier infantil es una gastroenteropatía perdedora de proteínas caracterizada por hipertrofa de la mucosa gástrica, de causa desconocida, aunque la mayoría de los casos informados se han asociado a infecciones virales. Se manifesta clínicamente por edema y bioquímicamente por hipoproteinemia e hipoalbuminemia. Es poco común en los niños, en quienes tiene un carácter benigno y autolimitado, a diferencia de los adultos, en los que tiende a cronifcarse y, en ocasiones, a malignizarse. Se presenta un caso de enfermedad de Ménétrier infantil con síndrome ascítico edematoso posiblemente asociado a una infección por citomegalovirus.

Ménétrier's disease is a childhood protein-losing gastroenteropathy characterized by hypertrophy of the gastric mucosa, of unknown etiology, although most of reported cases have been associated with viral infections. Clinical manifestation is edema and biochemically there are hypoproteinemia and hypoalbuminemia. This disease is very rare in children and they have a benign and self-limiting course in contrast to adults where tend to be chronic and occasionally to become malignant. We present a child with Ménétrier disease with edema and ascites possibly associated with a cytomegalovirus infection.