{"title":"首例报告的澳大利亚原住民多发性内分泌肿瘤 1 型病例。","authors":"Edward Mignone, Kirsten Neal","doi":"10.1530/EDM-24-0004","DOIUrl":null,"url":null,"abstract":"<p><strong>Summary: </strong>Multiple endocrine neoplasia type 1 (MEN1) requires a high level of suspicion, and late diagnosis can lead to dire outcomes. Genetic counselling is an important part of management, with a lack of evidence surrounding an optimal approach in Aboriginal Australian populations. Our case surrounds a remote-dwelling 48-year-old Aboriginal Australian female who was reviewed by an inpatient endocrine team in 2020 for persistent hypercalcaemia on a background of a parathyroidectomy in 2011 for primary hyperparathyroidism (PHPT), while she was admitted to a local hospital for acute chronic abdominal pain. Relevant medical history included multiple pulmonary embolisms/deep vein thrombosis, myocardial infarction, atrial fibrillation, chronic thromboembolic pulmonary hypertension, right heart failure, human T-lymphotropic virus 1, recurrent abdominal pain, and gastro-oesophageal reflux disorder. Gastroscopies from 2013 and 2015 demonstrated chronic gastritis with hundreds of gastric polyps. Subsequent laboratory studies, neuroendocrine tumour (NET) screening, and CT imaging demonstrated a recurrence of PHPT and a new diagnosis of Zollinger-Ellison syndrome. A 68-gallium-DOTATATE PET/CT was in keeping with metastatic NET. Pituitary studies were normal. Genetic testing confirmed a rare heterozygous variant of c.207dupC in exon 2 of the MEN1 gene. Treatment was symptom based due to terminal comorbidities. Genetic counselling was attempted; however, cultural and logistical barriers were identified and the family declined further testing. Unfortunately, she died in 2021 from multifactorial respiratory failure. This case highlights the need for better approaches to genetic counselling systems for remote Aboriginal Australians and emphasizes the importance of early recognition and the challenges faced in remote areas in making such rare diagnoses.</p><p><strong>Learning points: </strong>Remote healthcare systems often lack access to adequate specialist care, resulting in delayed diagnosis of rare conditions and leading to morbidity and mortality. Further research and work need to be done to provide culturally appropriate genetic counselling systems in remote Aboriginal Australians. A high index of suspicion is required to diagnose MEN1. Consider MEN1 in any patient diagnosed with primary hyperparathyroidism, with age <40, and/or with the presence of multiglandular disease or with the presence of Zollinger-Ellison syndrome. MEN1 may be under-recognized in Aboriginal Australians.</p>","PeriodicalId":37467,"journal":{"name":"Endocrinology, Diabetes and Metabolism Case Reports","volume":null,"pages":null},"PeriodicalIF":0.7000,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11466265/pdf/","citationCount":"0","resultStr":"{\"title\":\"First reported case of multiple endocrine neoplasia type 1 in an Australian Aboriginal.\",\"authors\":\"Edward Mignone, Kirsten Neal\",\"doi\":\"10.1530/EDM-24-0004\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Summary: </strong>Multiple endocrine neoplasia type 1 (MEN1) requires a high level of suspicion, and late diagnosis can lead to dire outcomes. Genetic counselling is an important part of management, with a lack of evidence surrounding an optimal approach in Aboriginal Australian populations. Our case surrounds a remote-dwelling 48-year-old Aboriginal Australian female who was reviewed by an inpatient endocrine team in 2020 for persistent hypercalcaemia on a background of a parathyroidectomy in 2011 for primary hyperparathyroidism (PHPT), while she was admitted to a local hospital for acute chronic abdominal pain. Relevant medical history included multiple pulmonary embolisms/deep vein thrombosis, myocardial infarction, atrial fibrillation, chronic thromboembolic pulmonary hypertension, right heart failure, human T-lymphotropic virus 1, recurrent abdominal pain, and gastro-oesophageal reflux disorder. Gastroscopies from 2013 and 2015 demonstrated chronic gastritis with hundreds of gastric polyps. Subsequent laboratory studies, neuroendocrine tumour (NET) screening, and CT imaging demonstrated a recurrence of PHPT and a new diagnosis of Zollinger-Ellison syndrome. A 68-gallium-DOTATATE PET/CT was in keeping with metastatic NET. Pituitary studies were normal. Genetic testing confirmed a rare heterozygous variant of c.207dupC in exon 2 of the MEN1 gene. Treatment was symptom based due to terminal comorbidities. Genetic counselling was attempted; however, cultural and logistical barriers were identified and the family declined further testing. Unfortunately, she died in 2021 from multifactorial respiratory failure. This case highlights the need for better approaches to genetic counselling systems for remote Aboriginal Australians and emphasizes the importance of early recognition and the challenges faced in remote areas in making such rare diagnoses.</p><p><strong>Learning points: </strong>Remote healthcare systems often lack access to adequate specialist care, resulting in delayed diagnosis of rare conditions and leading to morbidity and mortality. Further research and work need to be done to provide culturally appropriate genetic counselling systems in remote Aboriginal Australians. A high index of suspicion is required to diagnose MEN1. Consider MEN1 in any patient diagnosed with primary hyperparathyroidism, with age <40, and/or with the presence of multiglandular disease or with the presence of Zollinger-Ellison syndrome. MEN1 may be under-recognized in Aboriginal Australians.</p>\",\"PeriodicalId\":37467,\"journal\":{\"name\":\"Endocrinology, Diabetes and Metabolism Case Reports\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2024-09-27\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11466265/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Endocrinology, Diabetes and Metabolism Case Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1530/EDM-24-0004\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/7/1 0:00:00\",\"PubModel\":\"Print\",\"JCR\":\"Q4\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Endocrinology, Diabetes and Metabolism Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1530/EDM-24-0004","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/7/1 0:00:00","PubModel":"Print","JCR":"Q4","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
First reported case of multiple endocrine neoplasia type 1 in an Australian Aboriginal.
Summary: Multiple endocrine neoplasia type 1 (MEN1) requires a high level of suspicion, and late diagnosis can lead to dire outcomes. Genetic counselling is an important part of management, with a lack of evidence surrounding an optimal approach in Aboriginal Australian populations. Our case surrounds a remote-dwelling 48-year-old Aboriginal Australian female who was reviewed by an inpatient endocrine team in 2020 for persistent hypercalcaemia on a background of a parathyroidectomy in 2011 for primary hyperparathyroidism (PHPT), while she was admitted to a local hospital for acute chronic abdominal pain. Relevant medical history included multiple pulmonary embolisms/deep vein thrombosis, myocardial infarction, atrial fibrillation, chronic thromboembolic pulmonary hypertension, right heart failure, human T-lymphotropic virus 1, recurrent abdominal pain, and gastro-oesophageal reflux disorder. Gastroscopies from 2013 and 2015 demonstrated chronic gastritis with hundreds of gastric polyps. Subsequent laboratory studies, neuroendocrine tumour (NET) screening, and CT imaging demonstrated a recurrence of PHPT and a new diagnosis of Zollinger-Ellison syndrome. A 68-gallium-DOTATATE PET/CT was in keeping with metastatic NET. Pituitary studies were normal. Genetic testing confirmed a rare heterozygous variant of c.207dupC in exon 2 of the MEN1 gene. Treatment was symptom based due to terminal comorbidities. Genetic counselling was attempted; however, cultural and logistical barriers were identified and the family declined further testing. Unfortunately, she died in 2021 from multifactorial respiratory failure. This case highlights the need for better approaches to genetic counselling systems for remote Aboriginal Australians and emphasizes the importance of early recognition and the challenges faced in remote areas in making such rare diagnoses.
Learning points: Remote healthcare systems often lack access to adequate specialist care, resulting in delayed diagnosis of rare conditions and leading to morbidity and mortality. Further research and work need to be done to provide culturally appropriate genetic counselling systems in remote Aboriginal Australians. A high index of suspicion is required to diagnose MEN1. Consider MEN1 in any patient diagnosed with primary hyperparathyroidism, with age <40, and/or with the presence of multiglandular disease or with the presence of Zollinger-Ellison syndrome. MEN1 may be under-recognized in Aboriginal Australians.
期刊介绍:
Endocrinology, Diabetes & Metabolism Case Reports publishes case reports on common and rare conditions in all areas of clinical endocrinology, diabetes and metabolism. Articles should include clear learning points which readers can use to inform medical education or clinical practice. The types of cases of interest to Endocrinology, Diabetes & Metabolism Case Reports include: -Insight into disease pathogenesis or mechanism of therapy - Novel diagnostic procedure - Novel treatment - Unique/unexpected symptoms or presentations of a disease - New disease or syndrome: presentations/diagnosis/management - Unusual effects of medical treatment - Error in diagnosis/pitfalls and caveats