{"title":"Exaggerated Increases in the Serum Cortisol Level in a Woman Following Oral Contraceptive Treatment","authors":"Run Yu MD, PhD","doi":"10.1016/j.aace.2024.07.005","DOIUrl":"10.1016/j.aace.2024.07.005","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Extreme hypercortisolemia in an otherwise healthy patient can be due to familial dysalbuminemia, generalized glucocorticoid resistance, and estrogen-containing medications. I report a woman who appeared to have an exaggerated increase in the serum cortisol level following oral contraceptive treatment.</p></div><div><h3>Case Report</h3><p>A 50-year-old woman presented with extreme morning hypercortisolemia—cortisol levels of 61 and 55 mcg/dL (4 and 3 months before presentation, respectively; normal range, 8-25 mcg/dL)—found during workup of mildly increased white cell counts. The morning cortisol level had been 10 mcg/dL after administration of 1-mg dexamethasone. The 24-hour urine free cortisol level had been normal and only slightly increased after correction by creatinine. The patient was anxious about the extremely high cortisol levels but otherwise felt well. She took norgestimate-ethinyl estradiol contraceptive (0.18/0.215/0.25 mg - 35 mcg). Physical examination showed a well-appearing, lean female. The thyroid-stimulating hormone, total thyroxine, free thyroxine, total triiodothyronine, free triiodothyronine, androstenedione, dehydroepiandrosterone sulfate, aldosterone, and renin levels were normal. Morning total cortisol and cortisol-binding globulin (CBG) were tested before and after she held the oral contraceptive for 2 months. The total cortisol and CBG levels decreased from 50 to 26 mcg/dL and from 6.4 to 3.8 mg/dL (normal range, 1.7-3.1 mg/dL), respectively.</p></div><div><h3>Discussion</h3><p>Increases in the serum cortisol-binding proteins are a well-recognized cause for increases in the serum cortisol levels.</p></div><div><h3>Conclusion</h3><p>This case suggests that modern oral contraceptives with low to moderate estrogen activity can cause extreme increases in the serum cortisol levels due to marked increases in the CBG levels.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 5","pages":"Pages 206-209"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060524000695/pdfft?md5=fba0152c4327720221c97af6f9b51aae&pid=1-s2.0-S2376060524000695-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141702747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ismael A. Quintal-Medina MD , Francisco J. Gómez-Pérez MD , Paloma Almeda-Valdes MD, PhD
{"title":"Stiff Person Syndrome and Brittle Type 1 Diabetes: Report of 2 Cases","authors":"Ismael A. Quintal-Medina MD , Francisco J. Gómez-Pérez MD , Paloma Almeda-Valdes MD, PhD","doi":"10.1016/j.aace.2024.07.003","DOIUrl":"10.1016/j.aace.2024.07.003","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Stiff person syndrome (SPS) and type 1 diabetes (T1D) are heterogeneous disorders characterized by antibodies (Abs) against glutamic acid decarboxylase (GAD).</p></div><div><h3>Case Report</h3><p>We describe 2 patients with T1D and autoimmune thyroid disease who presented with muscle rigidity and intermittent spasms that affected gait and with elevated circulating anti-GAD titers. Classic SPS and stiff limb syndrome were diagnosed, respectively. Muscle spasms resolved with immunotherapy and muscle relaxants in both patients, and the ability to ambulate without an assistive device was restored in 1 patient. Patients also had brittle diabetes with high glycemic variability, requiring the use of flash glucose monitoring with an insulin pump and a second-generation basal insulin analog, respectively.</p></div><div><h3>Discussion</h3><p>GAD Ab–associated syndromes include SPS, T1D, and other endocrinopathies. The clinical heterogeneity implies variable susceptibility of γ-aminobutyric acid-ergic neurons and pancreatic beta cells to anti-GAD or other autoantibodies.</p></div><div><h3>Conclusion</h3><p>Our case series represent the heterogeneity in natural history, clinical course, and response to therapy in patients with Abs against GAD-spectrum disorders.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 5","pages":"Pages 198-201"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060524000671/pdfft?md5=a7c5a3f62986eb1fba7cdc95d6a54060&pid=1-s2.0-S2376060524000671-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141713720","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Type 1 Diabetes Mellitus Caused by COVID-19 mRNA Vaccination: A Case Report and Literature Review of 17 Published Cases","authors":"","doi":"10.1016/j.aace.2024.06.001","DOIUrl":"10.1016/j.aace.2024.06.001","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Multiple cases of postvaccination immune-related adverse events have been reported. We, hereby, present a patient who presented with new-onset type 1 diabetes mellitus (DM) after COVID-19 messenger RNA (mRNA) vaccination.</p></div><div><h3>Case Report</h3><p>A 38-year-old Caucasian man presented with sudden onset of polyuria, polydipsia, and blurry vision for 1 month. The patient received the second dose of the COVID-19 mRNA vaccine (Pfizer-BioNTech) 4 weeks prior to symptom onset. Initial workup revealed glucosuria and hemoglobin A1c of 9.4%. Antibodies against multiple pancreatic beta cell autoantigens were detected. The patient was then initiated on insulin.</p></div><div><h3>Discussion</h3><p>Hypothesized mechanisms for development of type 1 DM after COVID-19 mRNA vaccination include molecular mimicry, autoimmune/inflammatory syndrome induced by adjuvants, and possible interaction between the angiotensin-I converting enzyme-2 receptor on beta cells and viral mRNA. An initial high index of suspicion should be accompanied by early autoantibody testing and initiation of insulin, if indicated. Finally, if diagnosed with type 1 diabetes, patients must have long-term follow-up as there may be brief periods where glycemic control is maintained off insulin.</p></div><div><h3>Conclusion</h3><p>New-onset type 1 DM has been reported after COVID mRNA vaccination. Clinicians should maintain a high index of suspicion and pursue early testing for the same to reduce adverse outcomes and improve long-term prognosis.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 5","pages":"Pages 179-183"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060524000567/pdfft?md5=27c7a724a04c7b3d08a5e3bec497b2b2&pid=1-s2.0-S2376060524000567-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141405785","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jim T.C. Chen MD , Kirun Baweja MbChB , Lurdes Tse-Agha MD , Sara Awad MBBS, MHPE, FRCPC
{"title":"Multifocal Nonmetastatic Radioactive Iodine Avidity on Whole Body Scan After Thyroidectomy for Thyroid Cancer","authors":"Jim T.C. Chen MD , Kirun Baweja MbChB , Lurdes Tse-Agha MD , Sara Awad MBBS, MHPE, FRCPC","doi":"10.1016/j.aace.2024.07.001","DOIUrl":"10.1016/j.aace.2024.07.001","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Non-metastatic radioactive iodine (RAI) uptake can complicate the interpretation of whole-body scan (WBS) for differentiated thyroid carcinoma (DTC) post-thyroidectomy. We present a patient with DTC whose follow-up WBS showed nonmetastatic multifocal avidity in skeletal tissue, an uncommonly reported site of RAI uptake.</p></div><div><h3>Case report</h3><p>A 42-year-old woman underwent a right hemithyroidectomy, followed by completion thyroidectomy and RAI remnant ablation therapy, for a 4.8 cm thyroid tumor consistent with stage pT3aNxMx follicular thyroid cancer. Follow-up WBS showed intense activity in the thyroid bed, right breast, left medial subcortical acetabulum, and several vertebral bodies. Her biochemical and clinical findings were not suggestive of cancer recurrence. Further workup with SPECT/CT and MRI showed no focal vertebral lesions and identified the left femoral lesion as a benign peripheral nerve sheath. Diagnostic mammography and ultrasound showed no evidence of suspicious breast lesions. Neck ultrasound was clear with no suspicious masses or pathologic lymphadenopathy. She remained in remission on continued active surveillance.</p></div><div><h3>Discussion</h3><p>Nonmetastatic RAI uptake on WBS has many causes, including functional sodium-iodide symporter expression in nonthyroidal tissues, radioiodine accumulation in tissues and bodily fluids, and benign tumors. False-positive uptake can decrease the utility of post-treatment WBS in low-risk patients. Careful clinical examination, biochemical and radiologic follow-up, and close active surveillance can help distinguish false-positive uptake from metastatic or recurrent disease.</p></div><div><h3>Conclusion</h3><p>We describe an uncommon case of RAI uptake in skeletal tissues after thyroidectomy for DTC, and we outline the steps taken to rule out underlying metastases.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 5","pages":"Pages 188-192"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S237606052400066X/pdfft?md5=0274fd2526d98e6943328becccdd363e&pid=1-s2.0-S237606052400066X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141694197","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Skin Rash Appearing in a Patient with Gestational Diabetes Mellitus on Insulin Therapy","authors":"","doi":"10.1016/j.aace.2024.04.004","DOIUrl":"10.1016/j.aace.2024.04.004","url":null,"abstract":"","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 5","pages":"Pages 216-217"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060524000361/pdfft?md5=83ff849935c2dcd6f8743dcb7c2f7f52&pid=1-s2.0-S2376060524000361-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140763036","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Gender-Affirming Hormone Therapy With Estrogen Causing Gallstone Associated Acute Pancreatitis","authors":"Tatiana Tselovalnikova MD, PhD, Ifrah Fatima MD, Brandon Barthel MD","doi":"10.1016/j.aace.2024.07.006","DOIUrl":"10.1016/j.aace.2024.07.006","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Although estrogen is one of the main agents used to treat transgender women, there are few reports of acute pancreatitis (AP) of this illness in this group. The objective of this report is to describe a transgender woman who developed AP in the setting of estrogen treatment and gallstone disease.</p></div><div><h3>Case Report</h3><p>A 38-year-old transgender woman presented with severe abdominal pain and vomiting. Her medical history included gender dysphoria managed with gender-affirming hormone therapy comprising estradiol valerate, progesterone, and spironolactone. Initial management involved supportive care, antibiotic therapy, and endoscopic retrograde cholangiopancreatography with biliary stent placement. Imaging confirmed acute interstitial edematous pancreatitis without necrosis, guiding treatment decisions toward laparoscopic cholecystectomy. Pathological examination revealed multiple gallstones, affirming the diagnosis of AP secondary to choledocholithiasis, likely associated with estrogen use. Postprocedural recovery was uneventful, with eventual removal of the biliary stent and resolution of symptoms.</p></div><div><h3>Discussion</h3><p>There are only 7 reported cases in literature on estrogen-induced AP in transgender individuals undergoing gender-affirming hormone therapy. Most of these were primarily linked to hypertriglyceridemia.</p></div><div><h3>Conclusion</h3><p>High-dose estrogen therapy in transgender women can elevate the risk of AP through the development of gallstones, underscoring the importance of thorough patient evaluation and discussion of risks assessment prior to initiating hormone therapy.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 5","pages":"Pages 210-213"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060524000701/pdfft?md5=79dc08d4d7897ce11f8d27812971008d&pid=1-s2.0-S2376060524000701-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141852661","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Editorial for September/October Issue of AACE Clinical Case Reports","authors":"Sina Jasim MD, MPH (Editor in Chief)","doi":"10.1016/j.aace.2024.08.005","DOIUrl":"10.1016/j.aace.2024.08.005","url":null,"abstract":"","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 5","pages":"Page 169"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060524000828/pdfft?md5=15a173bb50e0227c883624d6cf41bd7a&pid=1-s2.0-S2376060524000828-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142162301","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
AACE Clinical Case ReportsPub Date : 2024-08-30eCollection Date: 2024-11-01DOI: 10.1016/j.aace.2024.08.009
Leslie S Eldeiry, Salomao Faintuch, Barry A Sacks
{"title":"Successful Radiofrequency Ablation of an Intrathyroidal Parathyroid Adenoma After Failed Parathyroidectomy.","authors":"Leslie S Eldeiry, Salomao Faintuch, Barry A Sacks","doi":"10.1016/j.aace.2024.08.009","DOIUrl":"10.1016/j.aace.2024.08.009","url":null,"abstract":"<p><strong>Background/objective: </strong>Radiofrequency ablation (RFA) has been increasingly used as an alternative to surgery in patients with primary hyperparathyroidism who are unable or unwilling to have surgery.</p><p><strong>Case report: </strong>We present a case of a 64-year-old woman who had surgery for primary hyperparathyroidism complicated by osteoporosis. Preoperative imaging with 4-dimensional computed tomography scan suggested multigland disease; however, she had persistent hyperparathyroidism after parathyroid exploration. Reevaluation of her imaging studies with ultrasound (US) and US-guided fine needle aspiration for parathyroid hormone washout led to identification of an intrathyroidal parathyroid adenoma that was successfully treated by RFA followed by ethanol injection.</p><p><strong>Discussion: </strong>The case illustrates the utility of US and US-guided fine needle aspiration for the identification of intrathyroidal parathyroid adenomas, as well as successful treatment of a patient who had failed parathyroid surgery, with a combination of both radiofrequency and percutaneous ethanol ablation, a novel technique.</p><p><strong>Conclusion: </strong>RFA, with or without ethanol ablation, can be considered as an alternative to surgery for patients with persistent hyperparathyroidism after parathyroidectomy.</p>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 6","pages":"253-256"},"PeriodicalIF":0.0,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11680750/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142902320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
AACE Clinical Case ReportsPub Date : 2024-08-24eCollection Date: 2024-11-01DOI: 10.1016/j.aace.2024.08.007
Samantha M Siskind, Sakshi Yadav, Melinda Solomon, Philip E Knapp, Hanni Menn-Josephy, Jean Francis, Helmut G Rennke, Rivka Ayalon, Katherine L Modzelewski
{"title":"Nephrotic Syndrome as a Complication of Systemic Calcitonin Amyloidosis From Long-Standing Metastatic Medullary Thyroid Cancer.","authors":"Samantha M Siskind, Sakshi Yadav, Melinda Solomon, Philip E Knapp, Hanni Menn-Josephy, Jean Francis, Helmut G Rennke, Rivka Ayalon, Katherine L Modzelewski","doi":"10.1016/j.aace.2024.08.007","DOIUrl":"10.1016/j.aace.2024.08.007","url":null,"abstract":"<p><strong>Background/objective: </strong>Medullary thyroid cancer often results in elevated calcitonin levels, which can cause localized formation of calcitonin amyloid, though rarely complications of systemic calcitonin amyloidosis have been reported. The objective of this report is to encourage awareness of calcitonin amyloid causing nephrotic syndrome in patients with metastatic medullary thyroid cancer.</p><p><strong>Case report: </strong>A 65-year-old woman with weakness, fatigue, anasarca, anemia, thrombocytopenia, venous and arterial thrombi, and a cavitary right lung lesion was transferred for care. She had a 14-year history of metastatic medullary thyroid cancer, status post-thyroidectomy and tyrosine kinase inhibitor therapy, adrenocorticotropic hormone-dependent Cushing syndrome in remission, and recently diagnosed nephrotic syndrome. On admission, she had lower extremity edema and scattered ecchymoses. Labs showed creatinine 0.62 mg/dL (0.7-1.3 mg/dL), morning cortisol >119.6 ug/dL (4-23 ug/dL), adrenocorticotropic hormone 426 pg/mL (6-50 pg/mL), 24-hour urine cortisol 6115.2 mcg/24 h (4-50 mcg/24 h), calcitonin 39 373 pg/mL (≤5 pg/mL), and carcinoembryonic antigen level 484.8 ng/mL (0-4.9 ng/mL). Kidney biopsy showed amyloidosis, which stained positive for calcitonin.</p><p><strong>Discussion: </strong>Systemic calcitonin amyloidosis is not well-documented in medullary thyroid cancer. To our knowledge, there are 2 previous case reports describing nephrotic syndrome secondary to calcitonin amyloid in the setting of medullary thyroid cancer.</p><p><strong>Conclusion: </strong>This case supports a small body of evidence that metastatic medullary thyroid cancer can result in systemic calcitonin amyloidosis and its complications, including nephrotic syndrome. Clinicians should consider nephrotic syndrome as a potential complication in patients with metastatic medullary thyroid cancer, particularly in those with long-standing calcitonin elevation and characteristic symptoms.</p>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 6","pages":"244-248"},"PeriodicalIF":0.0,"publicationDate":"2024-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11680751/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142902295","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
AACE Clinical Case ReportsPub Date : 2024-08-22eCollection Date: 2024-11-01DOI: 10.1016/j.aace.2024.08.006
Panagiotis Theodoropoulos, Nina Maria Fanaropoulou, Anastasios Manessis
{"title":"Unmasking a Rare Genetic Mutation: The Importance of Genetic Testing in Refractory Hypertriglyceridemia.","authors":"Panagiotis Theodoropoulos, Nina Maria Fanaropoulou, Anastasios Manessis","doi":"10.1016/j.aace.2024.08.006","DOIUrl":"10.1016/j.aace.2024.08.006","url":null,"abstract":"<p><strong>Background/objective: </strong>Genetic causes of hypertriglyceridemia like familial chylomicronemia syndrome can be overlooked in everyday practice. We report a patient with a rare genetic mutation, highlighting the importance of genetic testing for timely diagnosis and prevention of complications.</p><p><strong>Case report: </strong>A 45-year-old Hispanic female presented with serum triglyceride levels of 749 mg/dL, refractory to rosuvastatin 10 mg daily and omega-3 ethyl esters 2 g daily. Initial studies showed total cholesterol of 278 mg/dL and high-density lipoprotein of 38 mg/dL. Physical examination was negative for hepatosplenomegaly and xanthoma, with no reported history of acute pancreatitis. Despite treatment escalation with gemfibrozil, fenofibrate, and icosapent ethyl, her triglyceride levels remained elevated, peaking at 4300 mg/dL. Seven years after presentation, genetic testing revealed homozygosity for c.11delC of the apolipoprotein A5 gene, confirming the diagnosis of familial chylomicronemia syndrome. Postdiagnosis, the patient adhered to a strict low-fat diet with daily fat intake of less than 15-20 g, limited simple sugars, refined carbohydrates, and alcohol, leading to a nadir of serum triglycerides of 197 mg/dL.</p><p><strong>Discussion: </strong>The identified mutation is exceedingly rare (<0.01%), as most associated mutations involve the lipoprotein lipase gene. There are no approved therapies for genetic hypertriglyceridemia. The mainstay of treatment is a very low-fat diet to prevent complications.</p><p><strong>Conclusion: </strong>We underscore the importance of genetic testing in refractory hypertriglyceridemia despite a lack of clinical signs. A definitive diagnosis can alleviate patient burden, improve therapeutic adherence, and enhance the patient-physician relationship.</p>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 6","pages":"240-243"},"PeriodicalIF":0.0,"publicationDate":"2024-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11680754/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142902324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}