Unexplained Chronic Liver Disease and Hemolytic Anemia in a Young Girl: A Case of Wilson's Disease
Wilson's disease (WD) is an autosomal recessive disorder affecting the metabolism of copper that can present with a variety of clinical symptoms. Low levels of serum copper and ceruloplasmin, increased excretion of copper in the urine, and/or increasing quantities of copper in the liver are dia...
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| Veröffentlicht in: | Curēus (Palo Alto, CA) CA), 2023-12, Vol.15 (12), p.e50724 |
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| creator | Wahab, Abdul Sapkota, Kriti Jayakumar, Karthik Syed, Ebad-Ur Rehman Amin, Rooh Ul Ullah, Hidayat Khan, Nauman |
| description | Wilson's disease (WD) is an autosomal recessive disorder affecting the metabolism of copper that can present with a variety of clinical symptoms. Low levels of serum copper and ceruloplasmin, increased excretion of copper in the urine, and/or increasing quantities of copper in the liver are diagnostic indicators. The gold standard for diagnosis is genetic testing. The care approach includes the utilization of liver transplants as a therapeutic option in advanced patients and the use of copper-chelating medications. We describe a unique case of WD in a 14-year-old girl who presented with ascites, hemolytic anemia, and liver dysfunction. There was no indication of abdominal TB, and her viral, autoimmune, and hemolytic profiles were all normal. Low serum ceruloplasmin, elevated urine copper, and distinctive liver histology all supported the WD diagnosis. After starting penicillamine medication, the patient's symptoms improved, but her blood counts did not. This example emphasizes how crucial it is to rule out WD in patients with chronic liver disease, hemolytic anemia, and unexplained ascites, particularly in younger age groups. |
| doi_str_mv | 10.7759/cureus.50724 |
| format | Article |
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Low levels of serum copper and ceruloplasmin, increased excretion of copper in the urine, and/or increasing quantities of copper in the liver are diagnostic indicators. The gold standard for diagnosis is genetic testing. The care approach includes the utilization of liver transplants as a therapeutic option in advanced patients and the use of copper-chelating medications. We describe a unique case of WD in a 14-year-old girl who presented with ascites, hemolytic anemia, and liver dysfunction. There was no indication of abdominal TB, and her viral, autoimmune, and hemolytic profiles were all normal. Low serum ceruloplasmin, elevated urine copper, and distinctive liver histology all supported the WD diagnosis. After starting penicillamine medication, the patient's symptoms improved, but her blood counts did not. This example emphasizes how crucial it is to rule out WD in patients with chronic liver disease, hemolytic anemia, and unexplained ascites, particularly in younger age groups.</description><identifier>ISSN: 2168-8184</identifier><identifier>EISSN: 2168-8184</identifier><identifier>DOI: 10.7759/cureus.50724</identifier><identifier>PMID: 38234952</identifier><language>eng</language><publisher>United States: Cureus Inc</publisher><subject>Abdomen ; Adenosine ; Anemia ; Ascites ; Biopsy ; Case reports ; Copper ; Family medical history ; Gastroenterology ; Genetic testing ; Hematology ; Histology ; Hypertension ; Illnesses ; Internal Medicine ; Liver diseases ; Mutation ; Patients ; Urine</subject><ispartof>Curēus (Palo Alto, CA), 2023-12, Vol.15 (12), p.e50724</ispartof><rights>Copyright © 2023, Wahab et al.</rights><rights>Copyright © 2023, Wahab 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 © 2023, Wahab et al. 2023 Wahab et al.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c267t-4f4b16d5b131fdf2df0f1e5bd7e2e02499167d723740bcf1552f9bbc19a1f0593</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/PMC10792352/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC10792352/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/38234952$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Wahab, Abdul</creatorcontrib><creatorcontrib>Sapkota, Kriti</creatorcontrib><creatorcontrib>Jayakumar, Karthik</creatorcontrib><creatorcontrib>Syed, Ebad-Ur Rehman</creatorcontrib><creatorcontrib>Amin, Rooh Ul</creatorcontrib><creatorcontrib>Ullah, Hidayat</creatorcontrib><creatorcontrib>Khan, Nauman</creatorcontrib><title>Unexplained Chronic Liver Disease and Hemolytic Anemia in a Young Girl: A Case of Wilson's Disease</title><title>Curēus (Palo Alto, CA)</title><addtitle>Cureus</addtitle><description>Wilson's disease (WD) is an autosomal recessive disorder affecting the metabolism of copper that can present with a variety of clinical symptoms. Low levels of serum copper and ceruloplasmin, increased excretion of copper in the urine, and/or increasing quantities of copper in the liver are diagnostic indicators. The gold standard for diagnosis is genetic testing. The care approach includes the utilization of liver transplants as a therapeutic option in advanced patients and the use of copper-chelating medications. We describe a unique case of WD in a 14-year-old girl who presented with ascites, hemolytic anemia, and liver dysfunction. There was no indication of abdominal TB, and her viral, autoimmune, and hemolytic profiles were all normal. Low serum ceruloplasmin, elevated urine copper, and distinctive liver histology all supported the WD diagnosis. After starting penicillamine medication, the patient's symptoms improved, but her blood counts did not. This example emphasizes how crucial it is to rule out WD in patients with chronic liver disease, hemolytic anemia, and unexplained ascites, particularly in younger age groups.</description><subject>Abdomen</subject><subject>Adenosine</subject><subject>Anemia</subject><subject>Ascites</subject><subject>Biopsy</subject><subject>Case reports</subject><subject>Copper</subject><subject>Family medical history</subject><subject>Gastroenterology</subject><subject>Genetic testing</subject><subject>Hematology</subject><subject>Histology</subject><subject>Hypertension</subject><subject>Illnesses</subject><subject>Internal Medicine</subject><subject>Liver diseases</subject><subject>Mutation</subject><subject>Patients</subject><subject>Urine</subject><issn>2168-8184</issn><issn>2168-8184</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>BENPR</sourceid><recordid>eNpVkc1LAzEQxYMottTePEvAgxe3JtnNpvEiZdVWKHixiKeQ3U3alG1Sk26x_71b-0E9zcD78eYxD4BrjHqMUf5Q1F7VoUcRI8kZaBOc9qM-7ifnJ3sLdEOYI4RwQyGGLkEr7pM44ZS0QT6x6mdZSWNVCbOZd9YUcGzWysNnE5QMCkpbwpFauGqzarSBVQsjobFQwi9X2ykcGl89wgHMtrDT8NNUwdm7cDC4AhdaVkF197MDJq8vH9koGr8P37LBOCpIylZRopMcpyXNcYx1qUmpkcaK5iVTRCGScI5TVjISswTlhcaUEs3zvMBcYo0ojzvgaee7rPOFKgtlV15WYunNQvqNcNKI_4o1MzF1a9H8hZOYksbhdu_g3XetwkrMXe1tE1oQThClNEZJQ93vqMK7ELzSxxMYiW0rYteK-GulwW9OYx3hQwfxLzTviSU</recordid><startdate>20231218</startdate><enddate>20231218</enddate><creator>Wahab, Abdul</creator><creator>Sapkota, Kriti</creator><creator>Jayakumar, Karthik</creator><creator>Syed, Ebad-Ur Rehman</creator><creator>Amin, Rooh Ul</creator><creator>Ullah, Hidayat</creator><creator>Khan, Nauman</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>5PM</scope></search><sort><creationdate>20231218</creationdate><title>Unexplained Chronic Liver Disease and Hemolytic Anemia in a Young Girl: A Case of Wilson's Disease</title><author>Wahab, Abdul ; 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Low levels of serum copper and ceruloplasmin, increased excretion of copper in the urine, and/or increasing quantities of copper in the liver are diagnostic indicators. The gold standard for diagnosis is genetic testing. The care approach includes the utilization of liver transplants as a therapeutic option in advanced patients and the use of copper-chelating medications. We describe a unique case of WD in a 14-year-old girl who presented with ascites, hemolytic anemia, and liver dysfunction. There was no indication of abdominal TB, and her viral, autoimmune, and hemolytic profiles were all normal. Low serum ceruloplasmin, elevated urine copper, and distinctive liver histology all supported the WD diagnosis. After starting penicillamine medication, the patient's symptoms improved, but her blood counts did not. 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| subjects | Abdomen Adenosine Anemia Ascites Biopsy Case reports Copper Family medical history Gastroenterology Genetic testing Hematology Histology Hypertension Illnesses Internal Medicine Liver diseases Mutation Patients Urine |
| title | Unexplained Chronic Liver Disease and Hemolytic Anemia in a Young Girl: A Case of Wilson's Disease |
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