Simple Clinical Presentation of a Complicated Disease: The Story of Two Women with MEN 1

<ns3:p>Background Multiple Endocrine Neoplasia Type 1 (MEN 1) is a rare hereditary disorder characterized by tumors in the parathyroid, pancreatic islet cells, and anterior pituitary. This study discusses two distinct clinical cases to illustrate the diverse manifestations, diagnostic challenges, and management strategies for MEN 1. Methods A case-based approach was employed to examine the clinical presentation, biochemical findings, imaging results, and therapeutic interventions in two patients with MEN 1. Relevant literature was reviewed to contextualize the findings. Results Case 1 involved a 47-year-old female presenting with hyperparathyroidism and a gastrinoma, managed conservatively due to comorbid chronic kidney disease. Case 2 featured a 26-year-old female with aggressive manifestations, including severe osteoporosis, hypercalcemia, and a pancreatic tail lesion, necessitating prompt surgical intervention. Both cases highlighted the utility of advanced imaging (Tc99 MIBI scans, MRI) and biochemical markers (serum calcium, iPTH, chromogranin A) in diagnosis and management. Genetic testing was emphasized as a key component of family screening and long-term surveillance. Discussion MEN 1 requires a multidisciplinary approach due to its multisystemic nature. Early diagnosis and tailored interventions, including parathyroidectomy and medical therapies like cinacalcet and somatostatin analogs, are critical to optimizing outcomes. The variability in clinical presentations underscores the need for personalized management plans. Conclusion The diverse spectrum of MEN 1 demands vigilant surveillance and a collaborative healthcare approach. Advances in diagnostics and targeted treatments continue to improve patient outcomes, but long-term management and genetic counseling remain pivotal.</ns3:p>

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Publication Details

Journal
F1000Research
Published
2025-04-16
DOI
https://doi.org/10.12688/f1000research.161366.1
Primary Topic
DNA and Biological Computing
Type
article
Field-Weighted Citation Impact
0.00
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article

Simple Clinical Presentation of a Complicated Disease: The Story of Two Women with MEN 1

F1000Research
DNA and Biological Computing
article

Simple Clinical Presentation of a Complicated Disease: The Story of Two Women with MEN 1

article en

Abstract

<ns3:p>Background Multiple Endocrine Neoplasia Type 1 (MEN 1) is a rare hereditary disorder characterized by tumors in the parathyroid, pancreatic islet cells, and anterior pituitary. This study discusses two distinct clinical cases to illustrate the diverse manifestations, diagnostic challenges, and management strategies for MEN 1. Methods A case-based approach was employed to examine the clinical presentation, biochemical findings, imaging results, and therapeutic interventions in two patients with MEN 1. Relevant literature was reviewed to contextualize the findings. Results Case 1 involved a 47-year-old female presenting with hyperparathyroidism and a gastrinoma, managed conservatively due to comorbid chronic kidney disease. Case 2 featured a 26-year-old female with aggressive manifestations, including severe osteoporosis, hypercalcemia, and a pancreatic tail lesion, necessitating prompt surgical intervention. Both cases highlighted the utility of advanced imaging (Tc99 MIBI scans, MRI) and biochemical markers (serum calcium, iPTH, chromogranin A) in diagnosis and management. Genetic testing was emphasized as a key component of family screening and long-term surveillance. Discussion MEN 1 requires a multidisciplinary approach due to its multisystemic nature. Early diagnosis and tailored interventions, including parathyroidectomy and medical therapies like cinacalcet and somatostatin analogs, are critical to optimizing outcomes. The variability in clinical presentations underscores the need for personalized management plans. Conclusion The diverse spectrum of MEN 1 demands vigilant surveillance and a collaborative healthcare approach. Advances in diagnostics and targeted treatments continue to improve patient outcomes, but long-term management and genetic counseling remain pivotal.</ns3:p>

F1000ResearchVol. 14
Madurai Medical College (IN), Chittaranjan National Cancer Institute (IN), South Eastern Railway (IN), Neighborhood House (US), Neighborhood Health (US)
Good health and well-being
Openalex Percentile: Top 49%
DNA and Biological Computing
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