Human Chorionic Gonadotropin (hCG) Injections Exacerbating Acute Intermittent Porphyria in a 34-Year-Old Woman
A 34-year-old Asian woman arrived at the emergency department (ED) with complaints of sharp, cramping abdominal pain followed by stabbing chest pain that radiated to her back. She also reported numbness, tingling in both hands and feet, and a burning sensation. Upon examination, she exhibited tachyc...
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Veröffentlicht in: | Curēus (Palo Alto, CA) CA), 2024-09, Vol.16 (9), p.e68651 |
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description | A 34-year-old Asian woman arrived at the emergency department (ED) with complaints of sharp, cramping abdominal pain followed by stabbing chest pain that radiated to her back. She also reported numbness, tingling in both hands and feet, and a burning sensation. Upon examination, she exhibited tachycardia and persistently elevated blood pressure. Her lab results revealed low potassium and sodium levels. Despite testing negative for pregnancy, normal hepatic function test, and nerve conduction study, her symptoms persisted, and she was admitted to the intensive care unit for the monitoring and correction of her electrolyte imbalances. She was later discharged but continued to experience symptoms, prompting multiple ED visits. The patient reported the symptoms following a calorie-restricted ketogenic diet and receiving human chorionic gonadotropin (hCG) injections for weight loss, which led the providers to initially diagnose her with "keto flu" due to inadequate nutrient intake. Despite receiving this diagnosis, her symptoms worsened, and she experienced pain throughout her whole body, along with muscle pain and abnormal sensations. Further assessment revealed that her urine was brown and showed abnormal levels of porphyrins, indicating acute intermittent porphyria. A genetic test confirmed the presence of a pathogenic mutation in hydroxymethylbilane synthase (HMBS), leading to a diagnosis of late-onset acute intermittent porphyria. |
doi_str_mv | 10.7759/cureus.68651 |
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She also reported numbness, tingling in both hands and feet, and a burning sensation. Upon examination, she exhibited tachycardia and persistently elevated blood pressure. Her lab results revealed low potassium and sodium levels. Despite testing negative for pregnancy, normal hepatic function test, and nerve conduction study, her symptoms persisted, and she was admitted to the intensive care unit for the monitoring and correction of her electrolyte imbalances. She was later discharged but continued to experience symptoms, prompting multiple ED visits. The patient reported the symptoms following a calorie-restricted ketogenic diet and receiving human chorionic gonadotropin (hCG) injections for weight loss, which led the providers to initially diagnose her with "keto flu" due to inadequate nutrient intake. Despite receiving this diagnosis, her symptoms worsened, and she experienced pain throughout her whole body, along with muscle pain and abnormal sensations. Further assessment revealed that her urine was brown and showed abnormal levels of porphyrins, indicating acute intermittent porphyria. A genetic test confirmed the presence of a pathogenic mutation in hydroxymethylbilane synthase (HMBS), leading to a diagnosis of late-onset acute intermittent porphyria.</description><identifier>ISSN: 2168-8184</identifier><identifier>EISSN: 2168-8184</identifier><identifier>DOI: 10.7759/cureus.68651</identifier><identifier>PMID: 39371821</identifier><language>eng</language><publisher>United States: Cureus Inc</publisher><subject>Abdomen ; Calories ; Cardiac arrhythmia ; Constipation ; Creatinine ; Diet ; Enzymes ; Family/General Practice ; Genetics ; Heart rate ; Hypertension ; Hyponatremia ; Laboratories ; Mutation ; Pain ; Pathology ; Potassium ; Skin ; Urinalysis ; Urine</subject><ispartof>Curēus (Palo Alto, CA), 2024-09, Vol.16 (9), p.e68651</ispartof><rights>Copyright © 2024, Ali et al.</rights><rights>Copyright © 2024, Ali et al. This work is published under https://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>Copyright © 2024, Ali et al. 2024 Ali et al.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c262t-fc28266422285bd9f5211f0c313926c5be9dd8876ff3d46b269b9b5d02c879aa3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC11452356/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC11452356/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,315,729,782,786,887,27931,27932,53798,53800</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/39371821$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ali, Mahesheema</creatorcontrib><creatorcontrib>Iqbal, Sahar</creatorcontrib><title>Human Chorionic Gonadotropin (hCG) Injections Exacerbating Acute Intermittent Porphyria in a 34-Year-Old Woman</title><title>Curēus (Palo Alto, CA)</title><addtitle>Cureus</addtitle><description>A 34-year-old Asian woman arrived at the emergency department (ED) with complaints of sharp, cramping abdominal pain followed by stabbing chest pain that radiated to her back. 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Further assessment revealed that her urine was brown and showed abnormal levels of porphyrins, indicating acute intermittent porphyria. A genetic test confirmed the presence of a pathogenic mutation in hydroxymethylbilane synthase (HMBS), leading to a diagnosis of late-onset acute intermittent porphyria.</description><subject>Abdomen</subject><subject>Calories</subject><subject>Cardiac arrhythmia</subject><subject>Constipation</subject><subject>Creatinine</subject><subject>Diet</subject><subject>Enzymes</subject><subject>Family/General Practice</subject><subject>Genetics</subject><subject>Heart rate</subject><subject>Hypertension</subject><subject>Hyponatremia</subject><subject>Laboratories</subject><subject>Mutation</subject><subject>Pain</subject><subject>Pathology</subject><subject>Potassium</subject><subject>Skin</subject><subject>Urinalysis</subject><subject>Urine</subject><issn>2168-8184</issn><issn>2168-8184</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><recordid>eNpdkc9LHDEcxYNUqqzeepZALwqOzY9JJjkVWXQVBHtoKT2FTCbjZplJtklG9L8366qop2_gffK-38cD4BtGZ03D5A8zRTulMy44wztgn2AuKoFF_eXdew8cprRCCGHUENSgr2CPStpgQfA-8FfTqD2cL0N0wTsDF8HrLuQY1s7D4-V8cQKv_cqaXOQELx60sbHV2fk7eG6mbIuabRxdztZn-CvE9fIxOg3Lbw1pXf2zOla3Qwf_hrLoAOz2ekj28GXOwJ_Li9_zq-rmdnE9P7-pDOEkV70hgnBeE0IEazvZM4JxjwzFVBJuWGtl1wnR8L6nXc1bwmUrW9YhYkQjtaYz8HPru57a0Xam3Bb1oNbRjTo-qqCd-qh4t1R34V5hXDNCGS8Oxy8OMfyfbMpqdMnYYdDehikpijFtaibxBv3-CV2FKfqSr1CbBBwVeAZOt5SJIaVo-7drMFKbMtW2TPVcZsGP3id4g1-ro08_5puD</recordid><startdate>20240904</startdate><enddate>20240904</enddate><creator>Ali, Mahesheema</creator><creator>Iqbal, Sahar</creator><general>Cureus Inc</general><general>Cureus</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20240904</creationdate><title>Human Chorionic Gonadotropin (hCG) Injections Exacerbating Acute Intermittent Porphyria in a 34-Year-Old Woman</title><author>Ali, Mahesheema ; Iqbal, Sahar</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c262t-fc28266422285bd9f5211f0c313926c5be9dd8876ff3d46b269b9b5d02c879aa3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>Abdomen</topic><topic>Calories</topic><topic>Cardiac arrhythmia</topic><topic>Constipation</topic><topic>Creatinine</topic><topic>Diet</topic><topic>Enzymes</topic><topic>Family/General Practice</topic><topic>Genetics</topic><topic>Heart rate</topic><topic>Hypertension</topic><topic>Hyponatremia</topic><topic>Laboratories</topic><topic>Mutation</topic><topic>Pain</topic><topic>Pathology</topic><topic>Potassium</topic><topic>Skin</topic><topic>Urinalysis</topic><topic>Urine</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ali, Mahesheema</creatorcontrib><creatorcontrib>Iqbal, Sahar</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Access via ProQuest (Open Access)</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Curēus (Palo Alto, CA)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ali, Mahesheema</au><au>Iqbal, Sahar</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Human Chorionic Gonadotropin (hCG) Injections Exacerbating Acute Intermittent Porphyria in a 34-Year-Old Woman</atitle><jtitle>Curēus (Palo Alto, CA)</jtitle><addtitle>Cureus</addtitle><date>2024-09-04</date><risdate>2024</risdate><volume>16</volume><issue>9</issue><spage>e68651</spage><pages>e68651-</pages><issn>2168-8184</issn><eissn>2168-8184</eissn><abstract>A 34-year-old Asian woman arrived at the emergency department (ED) with complaints of sharp, cramping abdominal pain followed by stabbing chest pain that radiated to her back. She also reported numbness, tingling in both hands and feet, and a burning sensation. Upon examination, she exhibited tachycardia and persistently elevated blood pressure. Her lab results revealed low potassium and sodium levels. Despite testing negative for pregnancy, normal hepatic function test, and nerve conduction study, her symptoms persisted, and she was admitted to the intensive care unit for the monitoring and correction of her electrolyte imbalances. She was later discharged but continued to experience symptoms, prompting multiple ED visits. The patient reported the symptoms following a calorie-restricted ketogenic diet and receiving human chorionic gonadotropin (hCG) injections for weight loss, which led the providers to initially diagnose her with "keto flu" due to inadequate nutrient intake. Despite receiving this diagnosis, her symptoms worsened, and she experienced pain throughout her whole body, along with muscle pain and abnormal sensations. Further assessment revealed that her urine was brown and showed abnormal levels of porphyrins, indicating acute intermittent porphyria. A genetic test confirmed the presence of a pathogenic mutation in hydroxymethylbilane synthase (HMBS), leading to a diagnosis of late-onset acute intermittent porphyria.</abstract><cop>United States</cop><pub>Cureus Inc</pub><pmid>39371821</pmid><doi>10.7759/cureus.68651</doi><oa>free_for_read</oa></addata></record> |
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subjects | Abdomen Calories Cardiac arrhythmia Constipation Creatinine Diet Enzymes Family/General Practice Genetics Heart rate Hypertension Hyponatremia Laboratories Mutation Pain Pathology Potassium Skin Urinalysis Urine |
title | Human Chorionic Gonadotropin (hCG) Injections Exacerbating Acute Intermittent Porphyria in a 34-Year-Old Woman |
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