Enteroscopic diagnosis of intestinal malabsorption of a rare etiology: diaphragm disease.

We present the case of a 59-year-old patient with malabsorption syndrome which started with polyneuropathy. Capsule endoscopy and enteroscopy show villous denudation. Histological study confirms diaphragm disease of the small bowel. Diaphragm disease is a rare disease characterized by the presence of multiple thin diaphragms, such as septa, that narrow the intestinal lumen. The clinical features can be iron deficiency anemia, intestinal obstruction, change in bowel habits or acute abdomen secondary to perforation. It is usually generally with sustained use of high doses of non-steroidal anti-inflammatory drugs. The diagnosis usually requires the use of a capsule endoscopy or enteroscopy with biopsies. PMID: 32054283 [PubMed - as supplied by publisher]
Source: Revista Espanola de Enfermedades Digestivas - Category: Gastroenterology Tags: Rev Esp Enferm Dig Source Type: research

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CONCLUSIONS: Our case series confirms that AIHA is a very rare disease in childhood. Most cases evolve favorably, although up to a quarter of them require second lines of treatment and, in exceptional cases, they need very aggressive treatments. These latter cases generally correspond to patients who present more than one cytopenia in the course of the disease. PMID: 32972857 [PubMed - as supplied by publisher]
Source: Anales de Pediatria - Category: Pediatrics Authors: Tags: An Pediatr (Barc) Source Type: research
The introduction of new therapy modalities has significantly improved the outcome of aplastic anemia (AA) and paroxysmal nocturnal hemoglobinuria (PNH) patients. However, relatively little is known about the e...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
This report is particularly relevant to provide insights on the hematological impact of TRNT1 positive syndrome in adults and to improve early diagnosis and management of this rare disease.
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: SNP genotyping by SNP array Genome variation profiling by SNP array Homo sapiens Source Type: research
Authors: Shim YJ, Jung HL, Shin HY, Kang HJ, Choi JY, Hah JO, Lee JM, Lim YT, Yang EJ, Baek HJ, Choi HS, Yoo KH, Park JE, Kim S, Kim JY, Park ES, Im HJ, Chueh HW, Kim SK, Lee JH, Yoo ES, Park HJ, Lee JA, Park M, Kang HS, Park JK, Lee NH, Park SK, Lee YH, Lee SW, Choi EJ, Kong SG, Red Blood Cell Disorder Working Party of the Korean Society of Hematology Abstract BACKGROUND: Hereditary hemolytic anemia (HHA) is a rare disease characterized by premature red blood cell (RBC) destruction due to intrinsic RBC defects. The RBC Disorder Working Party of the Korean Society of Hematology established and updated the standard ...
Source: Journal of Korean Medical Science - Category: Biomedical Science Tags: J Korean Med Sci Source Type: research
Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by microangiopathic hemolytic anemia caused by small vessel thrombosis, thrombocytopenia, and renal failure. The common cause of aHUS i...
Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Case report Source Type: research
NEW BRUNSWICK, N.J., August 19, 2020 – Johnson &Johnson (NYSE:JNJ) today announced it has entered into a definitive agreement to acquire Momenta Pharmaceuticals, Inc. (Momenta), a company that discovers and develops novel therapies for immune-mediated diseases, in an all cash transaction for approximately $6.5 billion. This acquisition provides an opportunity for the Janssen Pharmaceutical Companies of Johnson &Johnson to broaden its leadership in immune-mediated diseases and drive further growth through expansion into autoantibody-driven disease. The transaction will include full global rights to nipocalimab...
Source: Johnson and Johnson - Category: Pharmaceuticals Tags: Our Company Source Type: news
We present here a pediatric patient diagnosed with primary atypical hemolytic-uremic syndrome associated with nephrotic syndrome who responded to eculizumab treatment. PMID: 32779691 [PubMed - as supplied by publisher]
Source: Jornal Brasileiro de Nefrologia - Category: Urology & Nephrology Tags: J Bras Nefrol Source Type: research
Purpose of review Genetic LCAT deficiency is a rare metabolic disorder characterized by low-plasma HDL cholesterol levels. Clinical manifestations of the disease include corneal opacification, anemia, and renal disease, which represents the major cause of morbidity and mortality in carriers. Recent findings Biochemical and clinical manifestations of the disease are very heterogeneous among carriers. The collection of large series of affected individuals is needed to answer various open questions on this rare disorder of lipid metabolism, such as the cause of renal damage in patients with complete LCAT deficiency and t...
Source: Current Opinion in Lipidology - Category: Lipidology Tags: HYPERLIPIDEMIA AND CARDIOVASCULAR DISEASE: Edited by Paul N. Durrington Source Type: research
Abstract Congenital amegakaryocytic thrombocytopenia caused by deleterious homozygous or compound heterozygous mutations in MPL (CAMT-MPL) is a rare inherited bone marrow failure syndrome presenting as an isolated thrombocytopenia at birth progressing to pancytopenia due to exhaustion of hematopoietic progenitors. The analysis of samples and clinical data from a large cohort of 56 patients with CAMT-MPL resulted in a detailed description of the clinical picture and reliable genotype-phenotype correlations for this rare disease. We extended the spectrum of CAMT causing MPL mutations regarding number (17 novel mutat...
Source: Haematologica - Category: Hematology Authors: Tags: Haematologica Source Type: research
Congenital hemolytic anemia constitutes a heterogeneous group of rare genetic disorders of red blood cells. Diagnosis is based on clinical data, family history and phenotypic testing, genetic analyses being us...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
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