AACE Clinical Case Reports最新文献

{"title":"Hypophysitis Secondary to Small Vessel ANCA Vasculitis Treated With Rituximab","authors":"Nankee K. Kumar AB ,&nbsp;Ana Rivadeneira MD ,&nbsp;Shubhasree Banerjee MD ,&nbsp;Maria Gubbiotti MD ,&nbsp;Daniel Yoshor MD ,&nbsp;Christina Jackson MD ,&nbsp;Julia Kharlip MD ,&nbsp;Caitlin A. White MD","doi":"10.1016/j.aace.2023.12.006","DOIUrl":"10.1016/j.aace.2023.12.006","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Antineutrophil cytoplasmic antibody (ANCA) associated vasculitis is a rare small vessel vasculitis that can cause pituitary hypophysitis. Hypophysitis is difficult to treat, often requiring high doses of glucocorticoids with frequent flaring as glucocorticoids are tapered. We present a case of ANCA vasculitis involving the pituitary gland successfully treated with rituximab.</p></div><div><h3>Case Report</h3><p>Fifty-one-year-old woman developed progressive frontal headaches, congestion, and epistaxis. Sinus computed tomography scan showed pituitary enlargement and chronic mucosal disease. Pituitary magnetic resonance imaging (MRI) confirmed a diffusely enlarged pituitary with a thickened pituitary stalk. Serologic evaluation revealed elevated inflammatory markers, positive perinuclear ANCA (p-ANCA), and an elevated serum anti-proteinase 3 (anti-PR3) antibody. The patient underwent pituitary biopsy, which showed adenohypophysitis with dense lymphoplasmacytic infiltration, some arranged perivascularly, compatible with involvement of the pituitary gland by ANCA vasculitis. The patient began rituximab and reported resolution of daily headaches, congestion, and epistaxis. Pituitary MRI scan 6 months after rituximab showed reduction in pituitary gland size and stalk thickening.</p></div><div><h3>Discussion</h3><p>ANCA vasculitis is a rare etiology of pituitary hypophysitis, which can present a diagnostic and therapeutic challenge. Pituitary involvement of ANCA vasculitis can be identified through p-ANCA or cytoplasmic ANCA (c-ANCA) and biopsy of the involved tissue. Rituximab, a monoclonal antibody against CD20, has been successfully used to treat ANCA vasculitis and in this case, led to clinical improvements and reduction in the size of the pituitary gland.</p></div><div><h3>Conclusion</h3><p>Pituitary biopsy enabled confirmation of ANCA hypophysitis and facilitated treatment with a steroid-sparing agent.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 2","pages":"Pages 55-59"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060523001761/pdfft?md5=ef3dfa4787a00ac41d5b5f975e958ddd&pid=1-s2.0-S2376060523001761-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139392256","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":"A Woman with Bilateral Pheochromocytoma and Tuberous Sclerosis Complex","authors":"Maleeha Zahid MD ,&nbsp;Shalini Koshy MD ,&nbsp;Jawairia Shakil MD ,&nbsp;Helmi S. Khadra MD ,&nbsp;Luan D. Truong MD ,&nbsp;Archana R. Sadhu MD","doi":"10.1016/j.aace.2023.12.001","DOIUrl":"https://doi.org/10.1016/j.aace.2023.12.001","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Pheochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumors. Here, we report an unusual case of synchronous PPGL in an asymptomatic patient with tuberous sclerosis complex (TSC).</p></div><div><h3>Case Report</h3><p>A 49-year-old woman with a history of TSC and end-stage renal disease was referred for evaluation of bilateral adrenal and retroperitoneal masses. She denied chest pain, palpitations, headaches, or previous hypertensive crisis. The laboratory test results showed a plasma normetanephrine level of 20.20 nmol/L (normal range, 0.00-0.89 nmol/L) and plasma chromogranin A level Chromogranin A (CgA) levels of 1518 ng/mL (normal range, 0-103 ng/mL). The plasma metanephrine level was normal. After α-blockade, the patient underwent bilateral adrenalectomy and retroperitoneal mass excision. Pathology confirmed these lesions to be pheochromocytoma and composite paraganglioma/ganglioneuroma, respectively. Her plasma normetanephrine level normalized postoperatively, and the chromogranin A levels improved to 431 ng/mL.</p></div><div><h3>Discussion</h3><p>Routine imaging has increased the incidental diagnosis of PPGL. Diagnostic workup includes measurement of the urinary and/or plasma metanephrine and catecholamine levels followed by tumor localization. Patients with young age, syndromic lesions, bilateral PPGL, or unilateral disease with a positive family history should have genetic testing. Definitive treatment is surgical after α-blockade.</p></div><div><h3>Conclusion</h3><p>This case highlights a rare presentation of bilateral PPGL in a patient with TSC.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 2","pages":"Pages 41-44"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060523001645/pdfft?md5=2fe4c1137734f512b6f9803f2c7b30b4&pid=1-s2.0-S2376060523001645-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140145177","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":"A Case of Appetite Loss Did Not Improve After Treatment for Hyperglycemia and Diabetic Ketoacidosis","authors":"Takahiro Ishikawa MD, PhD ,&nbsp;Hidehiro Kamezaki MD, PhD","doi":"10.1016/j.aace.2023.11.007","DOIUrl":"10.1016/j.aace.2023.11.007","url":null,"abstract":"","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 2","pages":"Pages 77-78"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060523001633/pdfft?md5=2ac7f71f8a07e7370c2dd466fa36c464&pid=1-s2.0-S2376060523001633-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138621312","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":"An Overlooked Medication-Induced Celiac Flare Complicating Treatment of Osteoporosis","authors":"Van Phan MD,&nbsp;John Aurora Jr. PharmD, BCACP, CDCES,&nbsp;Suma Gondi MD,&nbsp;Lisa Ceglia MD, MS","doi":"10.1016/j.aace.2024.01.001","DOIUrl":"10.1016/j.aace.2024.01.001","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Celiac disease, an immune reaction to gluten causing nutrient malabsorption, and long-term glucocorticoid therapy adversely affect bone metabolism and increase fracture risk.</p></div><div><h3>Case Report</h3><p>A patient with long-standing celiac disease on a strict gluten-free diet and long-term glucocorticoid therapy status post kidney transplant for Sjögren syndrome–induced interstitial nephritis presented for management of osteoporosis. Initial evaluation was notable for secondary hyperparathyroidism, which resolved after switching to a gluten-free calcium citrate supplement. Given normal serum total alkaline phosphatase (ALP) and parathyroid hormone (PTH), she began treatment of osteoporosis with abaloparatide. Two months later, she reported abrupt onset of diarrhea with significant weight loss. Biochemical investigation revealed a threefold increase in serum ALP level. As a precaution, abaloparatide was suspended, yet symptoms persisted with elevated ALP and PTH levels. Endoscopy revealed a celiac flare. The clinic-based pharmacist found that her pharmacy had inadvertently dispensed prednisone tablets containing wheat starch. A switch to a gluten-free formulation led to rapid resolution of the diarrhea with weight regain. Serum ALP and PTH levels normalized, and abaloparatide was resumed without biochemical abnormalities.</p></div><div><h3>Discussion</h3><p>An unintended switch to a gluten-containing prednisone formulation resulted in uncontrolled celiac disease causing calcium malabsorption, secondary hyperparathyroidism, elevated ALP levels, and an interruption in osteoporosis therapy. Common supplements and drugs can be a hidden source of gluten. Collaboration with a clinic-based pharmacist enhances the detection and prevention of medication-induced adverse reactions.</p></div><div><h3>Conclusion</h3><p>This case highlights the importance of a careful review of gluten-containing medications and supplements in patients with celiac disease.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 2","pages":"Pages 60-62"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060524000014/pdfft?md5=766c7c0ae2094bb29943fa075fcd2387&pid=1-s2.0-S2376060524000014-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139538811","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":"A Woman With HNF1A-Associated Monogenic Diabetes Treated Successfully With Repaglinide Monotherapy","authors":"Katherine Cuan DO ,&nbsp;Ilana R. Bass MD","doi":"10.1016/j.aace.2023.12.003","DOIUrl":"10.1016/j.aace.2023.12.003","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Monogenic diabetes is a rare type of diabetes that is commonly misdiagnosed as type 1 or 2 diabetes mellitus, which adversely impacts patient care. Such cases are particularly challenging given the heterogeneity in presentation and overlap with other types of diabetes. As the sole use of meglitinides, especially repaglinide, to treat <em>HNF1A</em>-associated monogenic diabetes has been rarely reported in a few other observational studies, we describe a patient who was treated successfully with repaglinide.</p></div><div><h3>Case Report</h3><p>A 38-year-old woman with type 1 diabetes mellitus, congenital deafness, chronic kidney disease, and retinopathy presented with difficulty controlling her blood glucose levels. Although initially treated with insulin, she had periods of noncompliance with insulin without experiencing diabetic ketoacidosis. Although on insulin therapy, she experienced multiple episodes of hypoglycemia. The laboratory tests showed a hemoglobin A1c level of 10.8%, c-peptide level of 2.7 ng/mL (1.1-4.4 ng/mL), glucose level of 192 mg/dL, creatinine level of 1.23 ng/dL, and severely increased microalbumin-to-creatinine ratio of 638 mg/g (normal range, 0-29 mg/g). Pancreatic autoantibodies were negative. Genetic testing revealed a diagnosis of <em>HNF1A</em>-associated monogenic diabetes (c. 1340C&gt;T (p.P447L)). She was ultimately treated with repaglinide after trials of sulfonylureas and dipeptidyl peptidase 4 inhibitors led to frequent hypoglycemia and a significant increase in the hemoglobin A1c level, respectively.</p></div><div><h3>Discussion</h3><p>This case highlights the importance of correctly diagnosing monogenic diabetes and reports the successful use of repaglinide to treat <em>HNF1A</em>-associated monogenic diabetes.</p></div><div><h3>Conclusion</h3><p>Patients with <em>HNF1A</em>-associated monogenic diabetes who do not achieve euglycemia with sulfonylureas and insulin may be successfully treated with repaglinide monotherapy.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 2","pages":"Pages 49-51"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060523001724/pdfft?md5=a3e2b328db20e88d8730e57da1f0a0e1&pid=1-s2.0-S2376060523001724-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138986516","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":"Cystic and Atrophic Kidneys, Atrophic Pancreas, Arcuate Uterus, and Diabetes Mellitus Associated With Deletion of HNF1β Gene","authors":"Rachel L. Usala MS, MD ,&nbsp;Alberto Sobrero BSc ,&nbsp;Amy Riek MD ,&nbsp;Janet McGill MD ,&nbsp;Fumihiko Urano MD, PhD","doi":"10.1016/j.aace.2023.06.003","DOIUrl":"10.1016/j.aace.2023.06.003","url":null,"abstract":"","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 2","pages":"Pages 75-76"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060523001189/pdfft?md5=97f86eb8ed8a26901a8cc8e943be7e45&pid=1-s2.0-S2376060523001189-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41353190","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":"Co-existence of Type 1 Diabetes Mellitus and Myasthenia Gravis: A Case Report and Review of the Literature","authors":"Sabitha Sasidharan Pillai MD ,&nbsp;Kate Millington MD","doi":"10.1016/j.aace.2023.12.004","DOIUrl":"10.1016/j.aace.2023.12.004","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Type 1 diabetes (T1D) and myasthenia gravis (MG) are autoimmune conditions that rarely co-occur. Here, we report a child with MG who subsequently developed T1D.</p></div><div><h3>Case report</h3><p>An 11-year-old girl with seropositive MG diagnosed at 4 years of age presented with muscle pain, cramps, and weight loss of 3.5 kg over 4 months. Her MG was in remission on daily pyridostigmine. She denied polyuria, polydipsia, recent illnesses, or other medications. She was prepubertal and had stable vitals with normal systemic examination. Initial work up for a probable diagnosis of rhabdomyolysis showed hyperglycemia and glucosuria. She had ketosis without acidosis. Diabetes autoantibodies were positive (anti-glutamic acid decarboxylase antibody 113.5 IU/mL (reference range &lt; 5 IU/mL), anti-zinc transporter 8 antibody &gt; 500 U/mL (reference range &lt; 15 IU/mL)). Screening for autoimmune thyroid disease and celiac disease was negative. Patient was diagnosed with T1D and was started on subcutaneous insulin.</p></div><div><h3>Discussion</h3><p>The co-existence of MG and T1D is rare. All the 4 prior reported patients from Europe were diagnosed with T1D prior to or concurrently with MG. In contrast, our patient was first diagnosed with MG and subsequently diagnosed with T1D 7 years later.</p></div><div><h3>Conclusions</h3><p>Consider screening for T1D in patients with MG and offering treatment to those above 8 years and older with stage 2 T1D to delay its onset. Along with other causes, T1D should also be considered when patients with MG present with nonspecific symptoms such as fatigue and weight loss.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 2","pages":"Pages 52-54"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060523001700/pdfft?md5=2c85f733e78eeacbf060b09635174180&pid=1-s2.0-S2376060523001700-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139023659","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":"Recalcitrant Hypocalcemia: Postsurgical Hypoparathyroidism Exacerbated by a Chyle Leak Treated With Octreotide","authors":"Brenda Dorcely MD,&nbsp;Nouran Ibrahim BA,&nbsp;Michael Natter MD,&nbsp;Noah Ziluck,&nbsp;Loren Wissner Greene MD, MA","doi":"10.1016/j.aace.2024.01.003","DOIUrl":"10.1016/j.aace.2024.01.003","url":null,"abstract":"<div><h3>Background/Objective</h3><p>To report a case of recalcitrant post-surgical hypocalcemia caused by hypoparathyroidism complicated by a chyle leak and octreotide use.</p></div><div><h3>Case Report</h3><p>A man in his 60s with a 4-month history of voice changes, 10-pound weight loss, and a right-sided neck mass presented with difficulty breathing for 1 week. He had a right laryngeal/hypopharyngeal mass, which was biopsied. Pathology results were positive for invasive squamous cell carcinoma. He underwent an extensive neck surgery, including total thyroidectomy. Postsurgical laboratory results revealed serum corrected calcium of 7.6 mg/dL (ref 8.0-10.2 mg/dL) and parathyroid hormone &lt;6.3 pg/mL (ref. 10-65). Despite treatment with calcium carbonate 12 g (elemental) daily, calcitriol and hydrochlorothiazide, his corrected serum calcium levels remained low. Patient also had a chyle leak that was treated with octreotide. Resolution of his hypocalcemia occurred after substitution of calcium carbonate with calcium citrate, cessation of octreotide, and management of the chyle leak.</p></div><div><h3>Discussion</h3><p>Our patient likely developed recalcitrant hypocalcemia from: 1) postsurgical hypoparathyroidism, 2) a chyle leak, and 3) the use of octreotide. Administration of octreotide to seal the chyle leak most likely decreased gastric acid production and contributed to decrease in absorption of calcium carbonate. Oral calcium citrate may be better absorbed in this case.</p></div><div><h3>Conclusion</h3><p>Postsurgical hypoparathyroidism can lead to hypocalcemia. This case is unique in that the patient’s chyle leak and the use of octreotide contributed to recalcitrant hypocalcemia.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 2","pages":"Pages 67-70"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060524000038/pdfft?md5=9c9e039321433821dc567305cb6014b6&pid=1-s2.0-S2376060524000038-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139537093","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":"A Rare Case of Persistent Multifocal Cribriform-Morular Thyroid Carcinoma","authors":"William Kuenstner MD ,&nbsp;Po Zhao MD ,&nbsp;Wen Lee MD ,&nbsp;Carlos Garcia MD ,&nbsp;Kenneth D. Burman MD ,&nbsp;Leila Shobab MD","doi":"10.1016/j.aace.2024.01.002","DOIUrl":"10.1016/j.aace.2024.01.002","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Cribriform-morular thyroid carcinoma (CMTC) was considered a variant of papillary thyroid carcinoma (PTC) but is a separate entity in the 2022 World Health Organization classification. CMTC has an association with familial adenomatous polyposis (FAP). Our objective is to report a case of CMTC who was subsequently diagnosed with FAP, to highlight these associated entities and implications for management.</p></div><div><h3>Case Report</h3><p>A 15-year-old female with a history of iron-deficiency anemia and alpha-gal syndrome presented with several years of goiter and dysphagia. She also noted unintentional weight loss, abdominal pain, melena and hematochezia, and symptomatic anemia. Physical examination was significant for multiple thyroid nodules. Laboratory results revealed normal thyroid function and iron deficiency. Multiple nodules were visualized on thyroid ultrasound, and fine needle aspiration biopsy was consistent with PTC. Total thyroidectomy was performed with a revised diagnosis of multifocal CMTC, with administration of adjuvant radioactive iodine due to persistent disease. Genetic testing confirmed FAP and she was referred for upper endoscopy, colonoscopy, and an evaluation for colectomy.</p></div><div><h3>Discussion</h3><p>There are no best practice guidelines for management of CMTC. Management of CMTC is guided by FAP status; sporadic cases can be managed with hemithyroidectomy, while FAP-associated cases are better managed with total thyroidectomy. Recurrence is usually managed with surgical resection. The decision to treat with adjuvant radioactive iodine is often extrapolated from management of classic PTC.</p></div><div><h3>Conclusion</h3><p>Thyroid carcinoma in the setting of extensive family history of colorectal carcinoma should arouse suspicion for CMTC. Patients with CMTC should receive a referral for colonoscopy and genetic testing for FAP.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 2","pages":"Pages 63-66"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060524000026/pdfft?md5=b0e86c64c6445ccb0af6cff37a7a6c07&pid=1-s2.0-S2376060524000026-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139638407","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":"A Case of Hypophosphatasia With Normal Alkaline Phosphatase Levels","authors":"Antara Dattagupta MD, MEng ,&nbsp;Steven Petak MD, JD","doi":"10.1016/j.aace.2023.11.006","DOIUrl":"10.1016/j.aace.2023.11.006","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Hypophosphatasia (HPP) is a rare disease associated with low serum alkaline phosphatase (ALP) activity. Here, we present a case of a patient with normal serum ALP levels diagnosed with HPP.</p></div><div><h3>Case Report</h3><p>A 36-year-old woman presented with progressive fatigue, weakness, and joint pain. She had been evaluated in the past for genetic disorders due to these symptoms and was found to have a history of several total ALP levels within normal limits but elevated vitamin B6 levels. She also reported having loose teeth and “gray gums” during her childhood. Bone-specific ALP was tested for suspicion of HPP and returned at 4.4 μ/L (reference range, 5.3-19.5 μg/L), which prompted genetic testing. Genetic testing confirmed a positive pathogenetic variant of the <em>ALPL</em> gene, the c.542C&gt;T (p.Ser181Leu) variant. She started asfotase alfa treatment to improve her symptoms.</p></div><div><h3>Discussion</h3><p>HPP was diagnosed based on clinical suspicion supported by laboratory findings, which can cause it to be underdiagnosed or misdiagnosed. Current literature reports that a low total ALP level is the main biochemical marker of HPP and the only level needed to diagnose the disease. However, bone-specific ALP, a common marker used for bone turnover, has not been required to be tested.</p></div><div><h3>Conclusion</h3><p>This case highlights a patient with normal total ALP, but low bone-specific ALP diagnosed with HPP confirmed by genetic testing. This case warrants future investigation into the diagnostic approach to HPP and the diagnostic utility between ALP and bone-specific ALP.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 2","pages":"Pages 38-40"},"PeriodicalIF":0.0,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060523001621/pdfft?md5=3c19a6e0bea915174f99472a98e3bfac&pid=1-s2.0-S2376060523001621-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139294406","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}