Clinical features of Fabry's disease in Australian patients
Identifieur interne : 002674 ( Istex/Corpus ); précédent : 002673; suivant : 002675Clinical features of Fabry's disease in Australian patients
Auteurs : J. Galanos ; K. Nicholls ; L. Grigg ; L. Kiers ; A. Crawford ; G. BeckerSource :
- Internal Medicine Journal [ 1444-0903 ] ; 2002-12.
Abstract
Abstract
Url:
DOI: 10.1046/j.1445-5994.2002.00291.x
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<hi rend="bold">Abstract</hi>
</p>
<p><hi rend="bold">Background: </hi>
Anticipating the prospect of specific treatment, we studied a large group of Australians with Fabry's disease.</p>
<p><hi rend="bold">Aims:</hi>
We aimed to: (i) document the clinical features of Fabry's disease in Australian patients, (ii) test the hypothesis that clinical features vary with specific mutation and blood group and (iii) assess small‐fibre peripheral nerve function.</p>
<p><hi rend="bold">Methods:</hi>
A questionnaire was forwarded to all Australian patients known to us. Patients were invited to attend for clinical, renal cardiac, ophthalmological and neurological assessment.</p>
<p><hi rend="bold">Results:</hi>
Sixty‐seven patients (29 men and 38 women) from 18 families participated. Diagnosis in index cases was delayed by ≥10 years in nearly all families. Common clinical features are: (i) episodic acroparaesthesia (100% of hemizygotes; 53% of heterozygotes), (ii) anhydrosis (93%; 1%), (iii) characteristic rash (93%; 13%), (iv) renal disease (69%; 21%), (v) ischaemic heart disease (28%; 26%), (vi) palpitations (62%; 29%), (vii) mitral valve murmurs (37%; 23%) and (viii) premature cerebrovascular disease (31%; 5%). Ophthalmic findings of cornea verticillata (96%; 76%) and anterior cataract (48%; 14%) were common. Findings were variable within and between families. In women, anhydrosis reliably predicts the presence of significant Fabry's renal disease. Small nerve fibre testing using quantitative sensory testing was clearly abnormal in 95% of male patients, and in those female patients with paraesthesiae.</p>
<p><hi rend="bold">Conclusions:</hi>
Symptoms of anhydrosis, acroparaesthesiae, rash and renal disease suggest diagnosis of Fabry’s. Women are commonly symptomatic, and the advent of therapy highlights the practical advantage of earlier diagnosis. (Intern Med J 2002; 32: 575−584)</p>
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<correspondenceTo><i>Kathy Nicholls, Department of Nephrology, C/‐ Post Office, The Royal Melbourne Hospital, Parkville, Vic. 3050, Australia. Email: </i>
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</p>
<p><b>Background: </b>
Anticipating the prospect of specific treatment, we studied a large group of Australians with Fabry's disease.</p>
<p><b>Aims:</b>
We aimed to: (i) document the clinical features of Fabry's disease in Australian patients, (ii) test the hypothesis that clinical features vary with specific mutation and blood group and (iii) assess small‐fibre peripheral nerve function.</p>
<p><b>Methods:</b>
A questionnaire was forwarded to all Australian patients known to us. Patients were invited to attend for clinical, renal cardiac, ophthalmological and neurological assessment.</p>
<p><b>Results:</b>
Sixty‐seven patients (29 men and 38 women) from 18 families participated. Diagnosis in index cases was delayed by ≥10 years in nearly all families. Common clinical features are: (i) episodic acroparaesthesia (100% of hemizygotes; 53% of heterozygotes), (ii) anhydrosis (93%; 1%), (iii) characteristic rash (93%; 13%), (iv) renal disease (69%; 21%), (v) ischaemic heart disease (28%; 26%), (vi) palpitations (62%; 29%), (vii) mitral valve murmurs (37%; 23%) and (viii) premature cerebrovascular disease (31%; 5%). Ophthalmic findings of cornea verticillata (96%; 76%) and anterior cataract (48%; 14%) were common. Findings were variable within and between families. In women, anhydrosis reliably predicts the presence of significant Fabry's renal disease. Small nerve fibre testing using quantitative sensory testing was clearly abnormal in 95% of male patients, and in those female patients with paraesthesiae.</p>
<p><b>Conclusions:</b>
Symptoms of anhydrosis, acroparaesthesiae, rash and renal disease suggest diagnosis of Fabry’s. Women are commonly symptomatic, and the advent of therapy highlights the practical advantage of earlier diagnosis. (Intern Med J 2002; 32: 575−584)</p>
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<mods version="3.6"><titleInfo lang="en"><title>Clinical features of Fabry's disease in Australian patients</title>
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<titleInfo type="abbreviated" lang="en"><title>Fabry's disease in Australia</title>
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<titleInfo type="alternative" contentType="CDATA" lang="en"><title>Clinical features of Fabry's disease in Australian patients</title>
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<name type="personal"><namePart type="given">J.</namePart>
<namePart type="family">Galanos</namePart>
<affiliation>Departments of Nephrology,</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">K.</namePart>
<namePart type="family">Nicholls</namePart>
<affiliation>Departments of Nephrology,</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
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<name type="personal"><namePart type="given">L.</namePart>
<namePart type="family">Grigg</namePart>
<affiliation>2Cardiology</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">L.</namePart>
<namePart type="family">Kiers</namePart>
<affiliation>Neurology and</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">A.</namePart>
<namePart type="family">Crawford</namePart>
<affiliation>Ophthalmology, The Royal Melbourne Hospital, Melbourne, Victoria, Australia</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">G.</namePart>
<namePart type="family">Becker</namePart>
<affiliation>Departments of Nephrology,</affiliation>
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<dateIssued encoding="w3cdtf">2002-12</dateIssued>
<edition>Received 24 May 2001; accepted 31 May 2002.</edition>
<copyrightDate encoding="w3cdtf">2002</copyrightDate>
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<abstract>Abstract</abstract>
<abstract>Background: Anticipating the prospect of specific treatment, we studied a large group of Australians with Fabry's disease.</abstract>
<abstract>Aims: We aimed to: (i) document the clinical features of Fabry's disease in Australian patients, (ii) test the hypothesis that clinical features vary with specific mutation and blood group and (iii) assess small‐fibre peripheral nerve function.</abstract>
<abstract>Methods: A questionnaire was forwarded to all Australian patients known to us. Patients were invited to attend for clinical, renal cardiac, ophthalmological and neurological assessment.</abstract>
<abstract>Results: Sixty‐seven patients (29 men and 38 women) from 18 families participated. Diagnosis in index cases was delayed by ≥10 years in nearly all families. Common clinical features are: (i) episodic acroparaesthesia (100% of hemizygotes; 53% of heterozygotes), (ii) anhydrosis (93%; 1%), (iii) characteristic rash (93%; 13%), (iv) renal disease (69%; 21%), (v) ischaemic heart disease (28%; 26%), (vi) palpitations (62%; 29%), (vii) mitral valve murmurs (37%; 23%) and (viii) premature cerebrovascular disease (31%; 5%). Ophthalmic findings of cornea verticillata (96%; 76%) and anterior cataract (48%; 14%) were common. Findings were variable within and between families. In women, anhydrosis reliably predicts the presence of significant Fabry's renal disease. Small nerve fibre testing using quantitative sensory testing was clearly abnormal in 95% of male patients, and in those female patients with paraesthesiae.</abstract>
<abstract>Conclusions: Symptoms of anhydrosis, acroparaesthesiae, rash and renal disease suggest diagnosis of Fabry’s. Women are commonly symptomatic, and the advent of therapy highlights the practical advantage of earlier diagnosis. (Intern Med J 2002; 32: 575−584)</abstract>
<subject lang="en"><genre>keywords</genre>
<topic>alpha‐galactosidase</topic>
<topic>cornea verticillata</topic>
<topic>Fabry's disease</topic>
<topic>Quantitative Sensory Testing</topic>
<topic>vascular disease.</topic>
</subject>
<relatedItem type="host"><titleInfo><title>Internal Medicine Journal</title>
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<identifier type="ISSN">1444-0903</identifier>
<identifier type="eISSN">1445-5994</identifier>
<identifier type="DOI">10.1111/(ISSN)1445-5994</identifier>
<identifier type="PublisherID">IMJ</identifier>
<part><date>2002</date>
<detail type="volume"><caption>vol.</caption>
<number>32</number>
</detail>
<detail type="issue"><caption>no.</caption>
<number>12</number>
</detail>
<extent unit="pages"><start>575</start>
<end>584</end>
<total>10</total>
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