Late-onset MADD: a rare cause of cirrhosis and acute liver failure?
Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is a severe inborn error of fat metabolism. In late-onset MADD, hepatopathy in the form of steatosis is commonplace and considered a benign and stable condition that does not progress to more advanced stages of liver disease, however, prog...
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| Veröffentlicht in: | Acta myologica 2020-03, Vol.39 (1), p.19-23 |
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| creator | Soldath, Patrick Lund, Allan Vissing, John |
| description | Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is a severe inborn error of fat metabolism. In late-onset MADD, hepatopathy in the form of steatosis is commonplace and considered a benign and stable condition that does not progress to more advanced stages of liver disease, however, progression to cirrhosis and acute liver failure (ALF) has been reported in two previous case reports. Here, we report a 22-year-old man, who suffered from late-onset MADD and died from cirrhosis and ALF. In the span of three months repeated clinical examinations, blood tests, and diagnostic imaging as well as liver biopsy revealed rapid progression of hepatopathy from steatosis to decompensated cirrhosis with portal hypertension. Routine studies for recognized etiologies found no evident cause besides MADD. This case report supports the findings of the two previous case reports and adds further evidence to the suggestion that late-onset MADD should be considered a rare cause of cirrhosis and ALF. |
| doi_str_mv | 10.36185/2532-1900-003 |
| format | Article |
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In late-onset MADD, hepatopathy in the form of steatosis is commonplace and considered a benign and stable condition that does not progress to more advanced stages of liver disease, however, progression to cirrhosis and acute liver failure (ALF) has been reported in two previous case reports. Here, we report a 22-year-old man, who suffered from late-onset MADD and died from cirrhosis and ALF. In the span of three months repeated clinical examinations, blood tests, and diagnostic imaging as well as liver biopsy revealed rapid progression of hepatopathy from steatosis to decompensated cirrhosis with portal hypertension. Routine studies for recognized etiologies found no evident cause besides MADD. This case report supports the findings of the two previous case reports and adds further evidence to the suggestion that late-onset MADD should be considered a rare cause of cirrhosis and ALF.</description><identifier>ISSN: 1128-2460</identifier><identifier>EISSN: 2532-1900</identifier><identifier>DOI: 10.36185/2532-1900-003</identifier><identifier>PMID: 32607475</identifier><language>eng</language><publisher>Italy: Pacini Editore Srl</publisher><subject>Clinical Deterioration ; Disease Progression ; Electron-Transferring Flavoproteins - genetics ; Fatal Outcome ; Fatty Liver - diagnosis ; Fatty Liver - genetics ; Fatty Liver - physiopathology ; Humans ; Hypertension, Portal - diagnosis ; Hypertension, Portal - etiology ; Hypoglycemia - diagnosis ; Hypoglycemia - etiology ; Iron-Sulfur Proteins - genetics ; Late Onset Disorders - diagnosis ; Late Onset Disorders - mortality ; Late Onset Disorders - physiopathology ; Liver - diagnostic imaging ; Liver - pathology ; Liver Cirrhosis - diagnosis ; Liver Cirrhosis - etiology ; Liver Cirrhosis - physiopathology ; Liver Failure, Acute - diagnosis ; Liver Failure, Acute - etiology ; Male ; Medical History Taking ; Multiple Acyl Coenzyme A Dehydrogenase Deficiency - genetics ; Multiple Acyl Coenzyme A Dehydrogenase Deficiency - physiopathology ; Multiple Acyl Coenzyme A Dehydrogenase Deficiency - therapy ; Mutation ; Original ; Oxidoreductases Acting on CH-NH Group Donors - genetics ; Patient Care - methods ; Young Adult</subject><ispartof>Acta myologica, 2020-03, Vol.39 (1), p.19-23</ispartof><rights>2020 Gaetano Conte Academy - Mediterranean Society of Myology, Naples, Italy.</rights><rights>2020 Gaetano Conte Academy - Mediterranean Society of Myology, Naples, Italy 2020</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c226t-898feb44fd26c003405c2c314bb990986f475b526442c0b9f5cef21c4b4aa3703</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7315895/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7315895/$$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/32607475$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Soldath, Patrick</creatorcontrib><creatorcontrib>Lund, Allan</creatorcontrib><creatorcontrib>Vissing, John</creatorcontrib><title>Late-onset MADD: a rare cause of cirrhosis and acute liver failure?</title><title>Acta myologica</title><addtitle>Acta Myol</addtitle><description>Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is a severe inborn error of fat metabolism. In late-onset MADD, hepatopathy in the form of steatosis is commonplace and considered a benign and stable condition that does not progress to more advanced stages of liver disease, however, progression to cirrhosis and acute liver failure (ALF) has been reported in two previous case reports. Here, we report a 22-year-old man, who suffered from late-onset MADD and died from cirrhosis and ALF. In the span of three months repeated clinical examinations, blood tests, and diagnostic imaging as well as liver biopsy revealed rapid progression of hepatopathy from steatosis to decompensated cirrhosis with portal hypertension. Routine studies for recognized etiologies found no evident cause besides MADD. This case report supports the findings of the two previous case reports and adds further evidence to the suggestion that late-onset MADD should be considered a rare cause of cirrhosis and ALF.</description><subject>Clinical Deterioration</subject><subject>Disease Progression</subject><subject>Electron-Transferring Flavoproteins - genetics</subject><subject>Fatal Outcome</subject><subject>Fatty Liver - diagnosis</subject><subject>Fatty Liver - genetics</subject><subject>Fatty Liver - physiopathology</subject><subject>Humans</subject><subject>Hypertension, Portal - diagnosis</subject><subject>Hypertension, Portal - etiology</subject><subject>Hypoglycemia - diagnosis</subject><subject>Hypoglycemia - etiology</subject><subject>Iron-Sulfur Proteins - genetics</subject><subject>Late Onset Disorders - diagnosis</subject><subject>Late Onset Disorders - mortality</subject><subject>Late Onset Disorders - physiopathology</subject><subject>Liver - diagnostic imaging</subject><subject>Liver - pathology</subject><subject>Liver Cirrhosis - diagnosis</subject><subject>Liver Cirrhosis - etiology</subject><subject>Liver Cirrhosis - physiopathology</subject><subject>Liver Failure, Acute - diagnosis</subject><subject>Liver Failure, Acute - etiology</subject><subject>Male</subject><subject>Medical History Taking</subject><subject>Multiple Acyl Coenzyme A Dehydrogenase Deficiency - genetics</subject><subject>Multiple Acyl Coenzyme A Dehydrogenase Deficiency - physiopathology</subject><subject>Multiple Acyl Coenzyme A Dehydrogenase Deficiency - therapy</subject><subject>Mutation</subject><subject>Original</subject><subject>Oxidoreductases Acting on CH-NH Group Donors - genetics</subject><subject>Patient Care - methods</subject><subject>Young Adult</subject><issn>1128-2460</issn><issn>2532-1900</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpVkE1LAzEQhoMottRePUr-QDTfu_GglK1fUPGi52WSJjay3S3JbsF_74JadC7D8PI-PAxC54xeCs1KdcWV4IQZSgml4ghND_cxmjLGS8KlphM0z_mDjiOlNoqfoongmhayUFNUraD3pGuz7_HzYrm8xoATJI8dDNnjLmAXU9p0OWYM7RqDG3qPm7j3CQeIzZD87Rk6CdBkP__ZM_R2f_daPZLVy8NTtVgRx7nuSWnK4K2UYc21G30lVY47waS1xlBT6jAaWcW1lNxRa4JyPnDmpJUAoqBihm6-ubvBbv3a-bZP0NS7FLeQPusOYv0_aeOmfu_2dSGYKo0aARd_AYfm7zvEF4QhYZI</recordid><startdate>20200301</startdate><enddate>20200301</enddate><creator>Soldath, Patrick</creator><creator>Lund, Allan</creator><creator>Vissing, John</creator><general>Pacini Editore Srl</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>5PM</scope></search><sort><creationdate>20200301</creationdate><title>Late-onset MADD: a rare cause of cirrhosis and acute liver failure?</title><author>Soldath, Patrick ; Lund, Allan ; Vissing, John</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c226t-898feb44fd26c003405c2c314bb990986f475b526442c0b9f5cef21c4b4aa3703</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Clinical Deterioration</topic><topic>Disease Progression</topic><topic>Electron-Transferring Flavoproteins - genetics</topic><topic>Fatal Outcome</topic><topic>Fatty Liver - diagnosis</topic><topic>Fatty Liver - genetics</topic><topic>Fatty Liver - physiopathology</topic><topic>Humans</topic><topic>Hypertension, Portal - diagnosis</topic><topic>Hypertension, Portal - etiology</topic><topic>Hypoglycemia - diagnosis</topic><topic>Hypoglycemia - etiology</topic><topic>Iron-Sulfur Proteins - genetics</topic><topic>Late Onset Disorders - diagnosis</topic><topic>Late Onset Disorders - mortality</topic><topic>Late Onset Disorders - physiopathology</topic><topic>Liver - diagnostic imaging</topic><topic>Liver - pathology</topic><topic>Liver Cirrhosis - diagnosis</topic><topic>Liver Cirrhosis - etiology</topic><topic>Liver Cirrhosis - physiopathology</topic><topic>Liver Failure, Acute - diagnosis</topic><topic>Liver Failure, Acute - etiology</topic><topic>Male</topic><topic>Medical History Taking</topic><topic>Multiple Acyl Coenzyme A Dehydrogenase Deficiency - genetics</topic><topic>Multiple Acyl Coenzyme A Dehydrogenase Deficiency - physiopathology</topic><topic>Multiple Acyl Coenzyme A Dehydrogenase Deficiency - therapy</topic><topic>Mutation</topic><topic>Original</topic><topic>Oxidoreductases Acting on CH-NH Group Donors - genetics</topic><topic>Patient Care - methods</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Soldath, Patrick</creatorcontrib><creatorcontrib>Lund, Allan</creatorcontrib><creatorcontrib>Vissing, John</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Acta myologica</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Soldath, Patrick</au><au>Lund, Allan</au><au>Vissing, John</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Late-onset MADD: a rare cause of cirrhosis and acute liver failure?</atitle><jtitle>Acta myologica</jtitle><addtitle>Acta Myol</addtitle><date>2020-03-01</date><risdate>2020</risdate><volume>39</volume><issue>1</issue><spage>19</spage><epage>23</epage><pages>19-23</pages><issn>1128-2460</issn><eissn>2532-1900</eissn><abstract>Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is a severe inborn error of fat metabolism. In late-onset MADD, hepatopathy in the form of steatosis is commonplace and considered a benign and stable condition that does not progress to more advanced stages of liver disease, however, progression to cirrhosis and acute liver failure (ALF) has been reported in two previous case reports. Here, we report a 22-year-old man, who suffered from late-onset MADD and died from cirrhosis and ALF. In the span of three months repeated clinical examinations, blood tests, and diagnostic imaging as well as liver biopsy revealed rapid progression of hepatopathy from steatosis to decompensated cirrhosis with portal hypertension. Routine studies for recognized etiologies found no evident cause besides MADD. This case report supports the findings of the two previous case reports and adds further evidence to the suggestion that late-onset MADD should be considered a rare cause of cirrhosis and ALF.</abstract><cop>Italy</cop><pub>Pacini Editore Srl</pub><pmid>32607475</pmid><doi>10.36185/2532-1900-003</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| language | eng |
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| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; PubMed Central; Alma/SFX Local Collection |
| subjects | Clinical Deterioration Disease Progression Electron-Transferring Flavoproteins - genetics Fatal Outcome Fatty Liver - diagnosis Fatty Liver - genetics Fatty Liver - physiopathology Humans Hypertension, Portal - diagnosis Hypertension, Portal - etiology Hypoglycemia - diagnosis Hypoglycemia - etiology Iron-Sulfur Proteins - genetics Late Onset Disorders - diagnosis Late Onset Disorders - mortality Late Onset Disorders - physiopathology Liver - diagnostic imaging Liver - pathology Liver Cirrhosis - diagnosis Liver Cirrhosis - etiology Liver Cirrhosis - physiopathology Liver Failure, Acute - diagnosis Liver Failure, Acute - etiology Male Medical History Taking Multiple Acyl Coenzyme A Dehydrogenase Deficiency - genetics Multiple Acyl Coenzyme A Dehydrogenase Deficiency - physiopathology Multiple Acyl Coenzyme A Dehydrogenase Deficiency - therapy Mutation Original Oxidoreductases Acting on CH-NH Group Donors - genetics Patient Care - methods Young Adult |
| title | Late-onset MADD: a rare cause of cirrhosis and acute liver failure? |
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