A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia
Juvenile polyposis syndrome (JPS) is a rare genetic disorder characterized by juvenile polyps of the gastrointestinal tract. We present a new pathogenic mutation of the SMAD4 gene and illustrate the need for a multidisciplinary health care approach to facilitate the correct diagnosis. The patient, a...
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Case Reports in Gastrointestinal Medicine |
| Online Access: | http://dx.doi.org/10.1155/2015/140616 |
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| author | Joel Johansson Christofer Sahin Rebecka Pestoff Simone Ignatova Pia Forsberg Anders Edsjö Mattias Ekstedt Marie Stenmark Askmalm |
| author_facet | Joel Johansson Christofer Sahin Rebecka Pestoff Simone Ignatova Pia Forsberg Anders Edsjö Mattias Ekstedt Marie Stenmark Askmalm |
| author_sort | Joel Johansson |
| collection | DOAJ |
| description | Juvenile polyposis syndrome (JPS) is a rare genetic disorder characterized by juvenile polyps of the gastrointestinal tract. We present a new pathogenic mutation of the SMAD4 gene and illustrate the need for a multidisciplinary health care approach to facilitate the correct diagnosis. The patient, a 47-year-old Caucasian woman, was diagnosed with anaemia at the age of 12. During the following 30 years, she developed numerous gastrointestinal polyps. The patient underwent several operations, and suffered chronic abdominal pain, malnutrition, and multiple infections. Screening of the SMAD4 gene revealed a novel, disease-causing mutation. In 2012, the patient suffered hypoalbuminemia and a large polyp in the small bowel was found. Gamma globulin was given but the patient responded with fever and influenza-like symptoms and refused more treatment. The patient underwent surgery in 2014 and made an uneventful recovery. At follow-up two months later albumin was 38 g/L and IgG was 6.9 g/L. Accurate diagnosis is essential for medical care. For patients with complex symptomatology, often with rare diseases, this is best provided by multidisciplinary teams including representatives from clinical genetics. Patients with a SMAD4 mutation should be followed up both for JPS and haemorrhagic hereditary telangiectasia and may develop protein loosing enteropathy and immunodeficiency. |
| format | Article |
| id | doaj-art-e0278e0bf0e74c4f8d91df593df07049 |
| institution | Kabale University |
| issn | 2090-6528 2090-6536 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Gastrointestinal Medicine |
| spelling | doaj-art-e0278e0bf0e74c4f8d91df593df070492025-08-20T03:26:09ZengWileyCase Reports in Gastrointestinal Medicine2090-65282090-65362015-01-01201510.1155/2015/140616140616A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic TelangiectasiaJoel Johansson0Christofer Sahin1Rebecka Pestoff2Simone Ignatova3Pia Forsberg4Anders Edsjö5Mattias Ekstedt6Marie Stenmark Askmalm7Gastroenterology and Hepatology Unit, Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, County Council of Östergötland, 581 85 Linköping, SwedenGastroenterology and Hepatology Unit, Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, County Council of Östergötland, 581 85 Linköping, SwedenDepartment of Clinical Pathology and Clinical Genetics and Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, County Council of Östergötland, 581 85 Linköping, SwedenDepartment of Clinical Pathology and Clinical Genetics and Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, County Council of Östergötland, 581 85 Linköping, SwedenDivision of Infectious Diseases, Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, County Council of Östergötland, 581 85 Linköping, SwedenDepartment of Clinical Pathology and Genetics, Sahlgrenska University Hospital, 413 45 Gothenburg, SwedenGastroenterology and Hepatology Unit, Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, County Council of Östergötland, 581 85 Linköping, SwedenDepartment of Clinical Pathology and Clinical Genetics and Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, County Council of Östergötland, 581 85 Linköping, SwedenJuvenile polyposis syndrome (JPS) is a rare genetic disorder characterized by juvenile polyps of the gastrointestinal tract. We present a new pathogenic mutation of the SMAD4 gene and illustrate the need for a multidisciplinary health care approach to facilitate the correct diagnosis. The patient, a 47-year-old Caucasian woman, was diagnosed with anaemia at the age of 12. During the following 30 years, she developed numerous gastrointestinal polyps. The patient underwent several operations, and suffered chronic abdominal pain, malnutrition, and multiple infections. Screening of the SMAD4 gene revealed a novel, disease-causing mutation. In 2012, the patient suffered hypoalbuminemia and a large polyp in the small bowel was found. Gamma globulin was given but the patient responded with fever and influenza-like symptoms and refused more treatment. The patient underwent surgery in 2014 and made an uneventful recovery. At follow-up two months later albumin was 38 g/L and IgG was 6.9 g/L. Accurate diagnosis is essential for medical care. For patients with complex symptomatology, often with rare diseases, this is best provided by multidisciplinary teams including representatives from clinical genetics. Patients with a SMAD4 mutation should be followed up both for JPS and haemorrhagic hereditary telangiectasia and may develop protein loosing enteropathy and immunodeficiency.http://dx.doi.org/10.1155/2015/140616 |
| spellingShingle | Joel Johansson Christofer Sahin Rebecka Pestoff Simone Ignatova Pia Forsberg Anders Edsjö Mattias Ekstedt Marie Stenmark Askmalm A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia Case Reports in Gastrointestinal Medicine |
| title | A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia |
| title_full | A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia |
| title_fullStr | A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia |
| title_full_unstemmed | A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia |
| title_short | A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia |
| title_sort | novel smad4 mutation causing severe juvenile polyposis syndrome with protein losing enteropathy immunodeficiency and hereditary haemorrhagic telangiectasia |
| url | http://dx.doi.org/10.1155/2015/140616 |
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