Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males [Original article] [Original article]
Identifieur interne : 001301 ( Istex/Corpus ); précédent : 001300; suivant : 001302Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males [Original article] [Original article]
Auteurs : K D Macdermot ; A. Holmes ; A H MinersSource :
- Journal of Medical Genetics [ 0022-2593 ] ; 2001-11-01.
Abstract
OBJECTIVES To determine the natural history of Anderson-Fabry disease (AFD) as a baseline for efficacy assessment of potentially therapeutic drugs. DESIGN The first large cross sectional study of a patient cohort from the AFD clinical and genetic register (UK), maintained for the last 15 years. MEASURES Prevalence, mortality, frequency of AFD manifestations, and impact of disease on patient lives, assessed from the AFD register and the disease specific questionnaire. RESULTS The median cumulative survival was 50 years (n=51), which represents an approximately 20 year reduction of life span. Neuropathic pain was present in 77% (n=93) with mean pain score of 5 (scale 0–10) despite treatment with anticonvulsants and opiates. Pain stopped in only 11%. Cerebrovascular complications developed in 24.2% and renal failure in 30%. The onset and progression of serious AFD manifestations was highly variable. The relationship of gastrointestinal manifestations on weight, using body mass index (BMI), was significant (p=0.01). High frequency sensorineural deafness was confirmed in 78% of audiograms. Neuropathic pain and angiokeratoma were absent in five adult males (∼5%). Median age at diagnosis of AFD was 21.9 years (n=64). IMPACT OF DISEASE Attendance at school, sports, and social activity were significantly affected by AFD. Only 56.6% (n=46) of patients were employed. Psychosexual effects of genital angiokeratoma, genital pain, and impotence were not previously recognised. CONCLUSION The majority of males experience multiple disease manifestations and the duration of neuropathic pain was lifelong. The AFD register proved useful for the determination of baseline disease parameters in this cohort.
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DOI: 10.1136/jmg.38.11.750
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<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males [Original article] [Original article]</title><author><name sortKey="Macdermot, K D" sort="Macdermot, K D" uniqKey="Macdermot K" first="K D" last="Macdermot">K D Macdermot</name><affiliation><mods:affiliation></mods:affiliation></affiliation></author><author><name sortKey="Holmes, A" sort="Holmes, A" uniqKey="Holmes A" first="A" last="Holmes">A. Holmes</name><affiliation><mods:affiliation></mods:affiliation></affiliation></author><author><name sortKey="Miners, A H" sort="Miners, A H" uniqKey="Miners A" first="A H" last="Miners">A H Miners</name><affiliation><mods:affiliation></mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:2911AA750E2F342E4A569F9FB03A4BB2A3A2597F</idno><date when="2001" year="2001">2001</date><idno type="doi">10.1136/jmg.38.11.750</idno><idno type="url">https://api.istex.fr/document/2911AA750E2F342E4A569F9FB03A4BB2A3A2597F/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001301</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">001301</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males [Original article] [Original article]</title><author><name sortKey="Macdermot, K D" sort="Macdermot, K D" uniqKey="Macdermot K" first="K D" last="Macdermot">K D Macdermot</name><affiliation><mods:affiliation></mods:affiliation></affiliation></author><author><name sortKey="Holmes, A" sort="Holmes, A" uniqKey="Holmes A" first="A" last="Holmes">A. Holmes</name><affiliation><mods:affiliation></mods:affiliation></affiliation></author><author><name sortKey="Miners, A H" sort="Miners, A H" uniqKey="Miners A" first="A H" last="Miners">A H Miners</name><affiliation><mods:affiliation></mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Journal of Medical Genetics</title><title level="j" type="abbrev">J Med Genet</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><publisher>BMJ Publishing Group Ltd</publisher><date type="published" when="2001-11-01">2001-11-01</date><biblScope unit="volume">38</biblScope><biblScope unit="issue">11</biblScope><biblScope unit="page" from="750">750</biblScope></imprint><idno type="ISSN">0022-2593</idno></series><idno type="istex">2911AA750E2F342E4A569F9FB03A4BB2A3A2597F</idno><idno type="DOI">10.1136/jmg.38.11.750</idno><idno type="href">jmedgenet-38-750.pdf</idno><idno type="PMID">11694547</idno><idno type="local">jmedgenet;38/11/750</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0022-2593</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">OBJECTIVES To determine the natural history of Anderson-Fabry disease (AFD) as a baseline for efficacy assessment of potentially therapeutic drugs. DESIGN The first large cross sectional study of a patient cohort from the AFD clinical and genetic register (UK), maintained for the last 15 years. MEASURES Prevalence, mortality, frequency of AFD manifestations, and impact of disease on patient lives, assessed from the AFD register and the disease specific questionnaire. RESULTS The median cumulative survival was 50 years (n=51), which represents an approximately 20 year reduction of life span. Neuropathic pain was present in 77% (n=93) with mean pain score of 5 (scale 0–10) despite treatment with anticonvulsants and opiates. Pain stopped in only 11%. Cerebrovascular complications developed in 24.2% and renal failure in 30%. The onset and progression of serious AFD manifestations was highly variable. The relationship of gastrointestinal manifestations on weight, using body mass index (BMI), was significant (p=0.01). High frequency sensorineural deafness was confirmed in 78% of audiograms. Neuropathic pain and angiokeratoma were absent in five adult males (∼5%). Median age at diagnosis of AFD was 21.9 years (n=64). IMPACT OF DISEASE Attendance at school, sports, and social activity were significantly affected by AFD. Only 56.6% (n=46) of patients were employed. Psychosexual effects of genital angiokeratoma, genital pain, and impotence were not previously recognised. CONCLUSION The majority of males experience multiple disease manifestations and the duration of neuropathic pain was lifelong. 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disorders</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>11</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Anderson-Fabry disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>natural history</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>mortality</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>prevalence</value></json:item></subject><language><json:string>eng</json:string></language><originalGenre><json:string>research-article</json:string></originalGenre><abstract>OBJECTIVES To determine the natural history of Anderson-Fabry disease (AFD) as a baseline for efficacy assessment of potentially therapeutic drugs. DESIGN The first large cross sectional study of a patient cohort from the AFD clinical and genetic register (UK), maintained for the last 15 years. MEASURES Prevalence, mortality, frequency of AFD manifestations, and impact of disease on patient lives, assessed from the AFD register and the disease specific questionnaire. RESULTS The median cumulative survival was 50 years (n=51), which represents an approximately 20 year reduction of life span. Neuropathic pain was present in 77% (n=93) with mean pain score of 5 (scale 0–10) despite treatment with anticonvulsants and opiates. Pain stopped in only 11%. Cerebrovascular complications developed in 24.2% and renal failure in 30%. The onset and progression of serious AFD manifestations was highly variable. The relationship of gastrointestinal manifestations on weight, using body mass index (BMI), was significant (p=0.01). High frequency sensorineural deafness was confirmed in 78% of audiograms. Neuropathic pain and angiokeratoma were absent in five adult males (∼5%). Median age at diagnosis of AFD was 21.9 years (n=64). IMPACT OF DISEASE Attendance at school, sports, and social activity were significantly affected by AFD. Only 56.6% (n=46) of patients were employed. Psychosexual effects of genital angiokeratoma, genital pain, and impotence were not previously recognised. CONCLUSION The majority of males experience multiple disease manifestations and the duration of neuropathic pain was lifelong. The AFD register proved useful for the determination of baseline disease parameters in this cohort.</abstract><qualityIndicators><score>7.976</score><pdfVersion>1.1</pdfVersion><pdfPageSize>612 x 792 pts (letter)</pdfPageSize><refBibsNative>false</refBibsNative><keywordCount>9</keywordCount><abstractCharCount>1712</abstractCharCount><pdfWordCount>8011</pdfWordCount><pdfCharCount>51373</pdfCharCount><pdfPageCount>11</pdfPageCount><abstractWordCount>248</abstractWordCount></qualityIndicators><title>Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males [Original article] [Original article]</title><pmid><json:string>11694547</json:string></pmid><genre><json:string>research-article</json:string></genre><host><title>Journal of Medical Genetics</title><language><json:string>unknown</json:string></language><issn><json:string>0022-2593</json:string></issn><eissn><json:string>1468-6244</json:string></eissn><publisherId><json:string>jmg</json:string></publisherId><volume>38</volume><issue>11</issue><pages><first>750</first></pages><genre><json:string>journal</json:string></genre></host><categories><inist><json:string>sciences appliquees, technologies et medecines</json:string><json:string>sciences biologiques et medicales</json:string><json:string>sciences medicales</json:string></inist></categories><publicationDate>2001</publicationDate><copyrightDate>2001</copyrightDate><doi><json:string>10.1136/jmg.38.11.750</json:string></doi><id>2911AA750E2F342E4A569F9FB03A4BB2A3A2597F</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/2911AA750E2F342E4A569F9FB03A4BB2A3A2597F/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/2911AA750E2F342E4A569F9FB03A4BB2A3A2597F/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/2911AA750E2F342E4A569F9FB03A4BB2A3A2597F/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males [Original article] [Original article]</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>BMJ Publishing Group Ltd</publisher><availability><p>Journal of Medical Genetics</p></availability><date>2001-11-01</date></publicationStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males [Original article] [Original article]</title><author xml:id="author-1"><persName><forename type="first">K D</forename><surname>MacDermot</surname></persName><affiliation></affiliation></author><author xml:id="author-2"><persName><forename type="first">A</forename><surname>Holmes</surname></persName><affiliation></affiliation></author><author xml:id="author-3"><persName><forename type="first">A H</forename><surname>Miners</surname></persName><affiliation></affiliation></author></analytic><monogr><title level="j">Journal of Medical Genetics</title><title level="j" type="abbrev">J Med Genet</title><idno type="pISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><publisher>BMJ Publishing Group Ltd</publisher><date type="published" when="2001-11-01"></date><biblScope unit="volume">38</biblScope><biblScope unit="issue">11</biblScope><biblScope unit="page" from="750">750</biblScope></imprint></monogr><idno type="istex">2911AA750E2F342E4A569F9FB03A4BB2A3A2597F</idno><idno type="DOI">10.1136/jmg.38.11.750</idno><idno type="href">jmedgenet-38-750.pdf</idno><idno type="PMID">11694547</idno><idno type="local">jmedgenet;38/11/750</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2001-11-01</date></creation><langUsage><language ident="en">en</language></langUsage><abstract><p>OBJECTIVES To determine the natural history of Anderson-Fabry disease (AFD) as a baseline for efficacy assessment of potentially therapeutic drugs. DESIGN The first large cross sectional study of a patient cohort from the AFD clinical and genetic register (UK), maintained for the last 15 years. MEASURES Prevalence, mortality, frequency of AFD manifestations, and impact of disease on patient lives, assessed from the AFD register and the disease specific questionnaire. RESULTS The median cumulative survival was 50 years (n=51), which represents an approximately 20 year reduction of life span. Neuropathic pain was present in 77% (n=93) with mean pain score of 5 (scale 0–10) despite treatment with anticonvulsants and opiates. Pain stopped in only 11%. Cerebrovascular complications developed in 24.2% and renal failure in 30%. The onset and progression of serious AFD manifestations was highly variable. The relationship of gastrointestinal manifestations on weight, using body mass index (BMI), was significant (p=0.01). High frequency sensorineural deafness was confirmed in 78% of audiograms. Neuropathic pain and angiokeratoma were absent in five adult males (∼5%). Median age at diagnosis of AFD was 21.9 years (n=64). IMPACT OF DISEASE Attendance at school, sports, and social activity were significantly affected by AFD. Only 56.6% (n=46) of patients were employed. Psychosexual effects of genital angiokeratoma, genital pain, and impotence were not previously recognised. CONCLUSION The majority of males experience multiple disease manifestations and the duration of neuropathic pain was lifelong. The AFD register proved useful for the determination of baseline disease parameters in this cohort.</p></abstract><textClass><keywords scheme="keyword"><list><head>hwp-journal-coll</head><item><term>Genetic screening / counselling</term></item></list></keywords></textClass><textClass><keywords scheme="keyword"><list><head>hwp-journal-coll</head><item><term>Renal medicine</term></item></list></keywords></textClass><textClass><keywords scheme="keyword"><list><head>hwp-journal-coll</head><item><term>Epidemiology</term></item></list></keywords></textClass><textClass><keywords scheme="keyword"><list><head>hwp-journal-coll</head><item><term>Metabolic disorders</term></item></list></keywords></textClass><textClass><keywords scheme="keyword"><list><head>hwp-journal-coll</head><item><term>11</term></item></list></keywords></textClass><textClass><keywords scheme="keyword"><list><head>keywords</head><item><term>Anderson-Fabry disease</term></item><item><term>natural history</term></item><item><term>mortality</term></item><item><term>prevalence</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2001-11-01">Created</change><change when="2001-11-01">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/2911AA750E2F342E4A569F9FB03A4BB2A3A2597F/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="corpus bmj, element response not found" wicri:toSee="no header"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="no"</istex:xmlDeclaration><istex:docType PUBLIC="-//NLM//DTD Journal Archiving and Interchange DTD v2.3 20070202//EN" URI="archivearticle.dtd" name="istex:docType"></istex:docType><istex:document><article article-type="research-article" xml:lang="EN"><front><journal-meta><journal-id journal-id-type="hwp">jmedgenet</journal-id><journal-id journal-id-type="nlm-ta">J Med Genet</journal-id><journal-id journal-id-type="publisher-id">jmg</journal-id><journal-title>Journal of Medical Genetics</journal-title><abbrev-journal-title abbrev-type="publisher">J Med Genet</abbrev-journal-title><issn pub-type="ppub">0022-2593</issn><issn pub-type="epub">1468-6244</issn><publisher><publisher-name>BMJ Publishing Group Ltd</publisher-name></publisher></journal-meta><article-meta><article-id>00414</article-id><article-id pub-id-type="other">jmedgenet;38/11/750</article-id><article-id pub-id-type="doi">10.1136/jmg.38.11.750</article-id><article-id pub-id-type="pmid">11694547</article-id><article-id pub-id-type="other">750</article-id><article-id pub-id-type="other">jmg.38.11.750</article-id><article-categories><subj-group subj-group-type="heading"><subject content-type="original">Original article</subject></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>Genetic screening / counselling</subject></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>Renal medicine</subject></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>Epidemiology</subject></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>Metabolic disorders</subject></subj-group></article-categories><title-group><article-title>Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males</article-title></title-group><contrib-group><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>MacDermot</surname><given-names>K D</given-names></name><xref rid="tO1001" ref-type="aff">a</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Holmes</surname><given-names>A</given-names></name><xref rid="tO1001" ref-type="aff">a</xref></contrib><contrib contrib-type="author" xlink:type="simple"><name name-style="western"><surname>Miners</surname><given-names>A H</given-names></name><xref rid="tO1002" ref-type="aff">b</xref></contrib></contrib-group><aff id="O1001"><target id="tO1001" target-type="aff"><sup>a</sup>Department of Medicine, Addenbrooke's Hospital, Hills Road, Cambridge CB2 2QQ, UK, </target><target id="tO1002" target-type="aff"><sup>b</sup>Primary Care and Population Sciences, University College Medical School, Royal Free Campus, Rowland Hill Street, London NW3 2QG, UK</target></aff><author-notes><corresp>Dr MacDermot, <email xlink:type="simple">kmacdermot@ucl.rfc.ac.uk</email></corresp></author-notes><pub-date pub-type="ppub"><day>1</day><month>11</month><year>2001</year></pub-date><pub-date pub-type="epub"><day>1</day><month>11</month><year>2001</year></pub-date><volume>38</volume><volume-id pub-id-type="other">38</volume-id><volume-id pub-id-type="other">38</volume-id><issue>11</issue><issue-id pub-id-type="other">jmedgenet;38/11</issue-id><issue-id pub-id-type="other">11</issue-id><issue-id pub-id-type="other">38/11</issue-id><fpage>750</fpage><history><date date-type="rev-recd"><day>24</day><month>7</month><year>2001</year></date><date date-type="accepted"><day>31</day><month>7</month><year>2001</year></date></history><permissions><copyright-statement>Journal of Medical Genetics</copyright-statement><copyright-year>2001</copyright-year></permissions><self-uri content-type="pdf" xlink:role="full-text" xlink:href="jmedgenet-38-750.pdf"></self-uri><abstract><sec><title>OBJECTIVES</title><p>To determine the natural history of Anderson-Fabry disease (AFD) as a baseline for efficacy assessment of potentially therapeutic drugs.</p></sec><sec><title>DESIGN</title><p>The first large cross sectional study of a patient cohort from the AFD clinical and genetic register (UK), maintained for the last 15 years.</p></sec><sec><title>MEASURES</title><p>Prevalence, mortality, frequency of AFD manifestations, and impact of disease on patient lives, assessed from the AFD register and the disease specific questionnaire.</p></sec><sec><title>RESULTS</title><p>The median cumulative survival was 50 years (n=51), which represents an approximately 20 year reduction of life span. Neuropathic pain was present in 77% (n=93) with mean pain score of 5 (scale 0–10) despite treatment with anticonvulsants and opiates. Pain stopped in only 11%. Cerebrovascular complications developed in 24.2% and renal failure in 30%. The onset and progression of serious AFD manifestations was highly variable. The relationship of gastrointestinal manifestations on weight, using body mass index (BMI), was significant (p=0.01). High frequency sensorineural deafness was confirmed in 78% of audiograms. Neuropathic pain and angiokeratoma were absent in five adult males (∼5%). Median age at diagnosis of AFD was 21.9 years (n=64).</p></sec><sec><title>IMPACT OF DISEASE</title><p>Attendance at school, sports, and social activity were significantly affected by AFD. Only 56.6% (n=46) of patients were employed. Psychosexual effects of genital angiokeratoma, genital pain, and impotence were not previously recognised.</p></sec><sec><title>CONCLUSION</title><p>The majority of males experience multiple disease manifestations and the duration of neuropathic pain was lifelong. The AFD register proved useful for the determination of baseline disease parameters in this cohort.</p></sec></abstract><kwd-group><kwd>Anderson-Fabry disease</kwd><kwd>natural history</kwd><kwd>mortality</kwd><kwd>prevalence</kwd></kwd-group></article-meta></front><response response-type="reply" xml:lang="EN"><front><journal-meta><journal-id journal-id-type="hwp">jmedgenet</journal-id><journal-id journal-id-type="nlm-ta">J Med Genet</journal-id><journal-id journal-id-type="publisher-id">jmg</journal-id><journal-title>Journal of Medical Genetics</journal-title><abbrev-journal-title abbrev-type="publisher">J Med Genet</abbrev-journal-title><issn pub-type="ppub">0022-2593</issn><issn pub-type="epub">1468-6244</issn><publisher><publisher-name>BMJ Publishing Group Ltd</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="other">response1</article-id><article-categories><subj-group subj-group-type="heading"><subject content-type="original">Original article</subject></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>11</subject></subj-group></article-categories><title-group><article-title></article-title></title-group><pub-date pub-type="ppub"><day>1</day><month>11</month><year>2001</year></pub-date><pub-date pub-type="epub"><day>1</day><month>11</month><year>2001</year></pub-date><volume>38</volume><volume-id pub-id-type="other">38</volume-id><issue>11</issue><issue-id pub-id-type="other">11</issue-id><fpage>750</fpage><permissions><copyright-statement>Journal of Medical Genetics</copyright-statement><copyright-year>2001</copyright-year></permissions><self-uri content-type="pdf" xlink:role="full-text" xlink:href="jmedgenet-38-750.pdf"></self-uri></article-meta></front><body><p><fig position="float"><graphic xlink:href="jmedgenet-38-750-F4.jpg" alt-version="no" position="float" xlink:type="simple"></graphic></fig></p></body></response></article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males [Original article] [Original article]</title></titleInfo><titleInfo type="alternative" lang="en" contentType="CDATA"><title>Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males [Original article] [Original article]</title></titleInfo><name type="personal"><namePart type="given">K D</namePart><namePart type="family">MacDermot</namePart><affiliation></affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A</namePart><namePart type="family">Holmes</namePart><affiliation></affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A H</namePart><namePart type="family">Miners</namePart><affiliation></affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="research-article"></genre><subject><genre>hwp-journal-coll</genre><topic>Genetic screening / counselling</topic></subject><subject><genre>hwp-journal-coll</genre><topic>Renal medicine</topic></subject><subject><genre>hwp-journal-coll</genre><topic>Epidemiology</topic></subject><subject><genre>hwp-journal-coll</genre><topic>Metabolic disorders</topic></subject><subject><genre>hwp-journal-coll</genre><topic>11</topic></subject><originInfo><publisher>BMJ Publishing Group Ltd</publisher><dateIssued encoding="w3cdtf">2001-11-01</dateIssued><dateCreated encoding="w3cdtf">2001-11-01</dateCreated><copyrightDate encoding="w3cdtf">2001</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><abstract>OBJECTIVES To determine the natural history of Anderson-Fabry disease (AFD) as a baseline for efficacy assessment of potentially therapeutic drugs. DESIGN The first large cross sectional study of a patient cohort from the AFD clinical and genetic register (UK), maintained for the last 15 years. MEASURES Prevalence, mortality, frequency of AFD manifestations, and impact of disease on patient lives, assessed from the AFD register and the disease specific questionnaire. RESULTS The median cumulative survival was 50 years (n=51), which represents an approximately 20 year reduction of life span. Neuropathic pain was present in 77% (n=93) with mean pain score of 5 (scale 0–10) despite treatment with anticonvulsants and opiates. Pain stopped in only 11%. Cerebrovascular complications developed in 24.2% and renal failure in 30%. The onset and progression of serious AFD manifestations was highly variable. The relationship of gastrointestinal manifestations on weight, using body mass index (BMI), was significant (p=0.01). High frequency sensorineural deafness was confirmed in 78% of audiograms. Neuropathic pain and angiokeratoma were absent in five adult males (∼5%). Median age at diagnosis of AFD was 21.9 years (n=64). IMPACT OF DISEASE Attendance at school, sports, and social activity were significantly affected by AFD. Only 56.6% (n=46) of patients were employed. Psychosexual effects of genital angiokeratoma, genital pain, and impotence were not previously recognised. CONCLUSION The majority of males experience multiple disease manifestations and the duration of neuropathic pain was lifelong. The AFD register proved useful for the determination of baseline disease parameters in this cohort.</abstract><subject><genre>keywords</genre><topic>Anderson-Fabry disease</topic><topic>natural history</topic><topic>mortality</topic><topic>prevalence</topic></subject><relatedItem type="host"><titleInfo><title>Journal of Medical Genetics</title></titleInfo><titleInfo type="abbreviated"><title>J Med Genet</title></titleInfo><genre type="journal">journal</genre><identifier type="ISSN">0022-2593</identifier><identifier type="eISSN">1468-6244</identifier><identifier type="PublisherID">jmg</identifier><identifier type="PublisherID-hwp">jmedgenet</identifier><identifier type="PublisherID-nlm-ta">J Med Genet</identifier><part><date>2001</date><detail type="volume"><caption>vol.</caption><number>38</number></detail><detail type="issue"><caption>no.</caption><number>11</number></detail><extent unit="pages"><start>750</start></extent></part></relatedItem><relatedItem type="references"><genre>reply</genre><originInfo><publisher>BMJ Publishing Group Ltd. </publisher><dateIssued encoding="w3cdtf">2001-11-01</dateIssued></originInfo><relatedItem type="host"><titleInfo><title>Journal of Medical Genetics</title></titleInfo><titleInfo type="abbreviated"><title>J Med Genet</title></titleInfo><subject><genre>heading</genre><topic>Original article</topic></subject><subject><genre>hwp-journal-coll</genre><topic>11</topic></subject><identifier type="ISSN">0022-2593</identifier><identifier type="eISSN">1468-6244</identifier><identifier type="PublisherID">jmg</identifier><identifier type="PublisherID-hwp">jmedgenet</identifier><identifier type="PublisherID-nlm-ta">J Med Genet</identifier><part><date>2001</date><detail type="volume"><number>38</number></detail><detail type="issue"><number>11</number></detail><extent unit="pages"><start>750</start></extent></part><accessCondition type="use and reproduction" contentType="copyright">Journal of Medical Genetics</accessCondition></relatedItem></relatedItem><identifier type="istex">2911AA750E2F342E4A569F9FB03A4BB2A3A2597F</identifier><identifier type="DOI">10.1136/jmg.38.11.750</identifier><identifier type="href">jmedgenet-38-750.pdf</identifier><identifier type="PMID">11694547</identifier><identifier type="local">jmedgenet;38/11/750</identifier><accessCondition type="use and reproduction" contentType="copyright">Journal of Medical Genetics</accessCondition><recordInfo><recordContentSource>BMJ</recordContentSource></recordInfo></mods></metadata><annexes><json:item><extension>jpeg</extension><original>true</original><mimetype>image/jpeg</mimetype><uri>https://api.istex.fr/document/2911AA750E2F342E4A569F9FB03A4BB2A3A2597F/annexes/jpeg</uri></json:item></annexes><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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