Characteristics of patients contacting a center for undiagnosed and rare diseases
Identifieur interne : 000046 ( Main/Exploration ); précédent : 000045; suivant : 000047Characteristics of patients contacting a center for undiagnosed and rare diseases
Auteurs : Tobias Mueller [Allemagne] ; Andreas Jerrentrup [Allemagne] ; Max Jakob Bauer [Allemagne] ; Hans Walter Fritsch [Allemagne] ; Juergen Rolf Schaefer [Allemagne]Source :
- Orphanet Journal of Rare Diseases [ 1750-1172 ] ; 2016.
Abstract
Little is known about the characteristics of patients seeking help from dedicated centers for undiagnosed and rare diseases. However, information about their demographics, symptoms, prior diagnoses and medical specialty is crucial to optimize these centers’ processes and infrastructure.
Using a questionnaire, structured information from 522 adult patients contacting a center for undiagnosed and rare diseases was obtained. The information included basic sociodemographic data (age, gender, insurance status), previous hospital admissions, primary symptoms of complaint and previously determined diagnosis.
The majority of patients completing the questionnaire were female, 300 (57 %) vs. 222 men (43 %). The median age was 52 years (range 18–92). More than half, 309 (59 %), of our patients had never been admitted to a university hospital. Common diagnoses included other soft tissue disorders, not classified elsewhere (ICD M79,
Pain-associated diagnoses and the typical “unexplained” medical conditions (chronic fatigue syndrome, fibromyalgia, irritable bowel syndrome) are frequent among people contacting a center dedicated to undiagnosed diseases. The chief symptoms are mostly unspecific. An interdisciplinary organizational approach involving mainly internal medicine, neurology and psychiatry/psychosomatic care is needed.
Url:
DOI: 10.1186/s13023-016-0467-2
PubMed: 27328799
PubMed Central: 4915144
Affiliations:
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last="Mueller">Tobias Mueller</name><affiliation wicri:level="3"><nlm:aff id="Aff1">Center for undiagnosed and rare diseases, University clinic Marburg, Baldinger Str. 1, D-35043 Marburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Center for undiagnosed and rare diseases, University clinic Marburg, Baldinger Str. 1, D-35043 Marburg</wicri:regionArea><placeName><region type="land" nuts="1">Hesse (Land)</region><region type="district" nuts="2">District de Giessen</region><settlement type="city">Marbourg</settlement></placeName></affiliation></author><author><name sortKey="Jerrentrup, Andreas" sort="Jerrentrup, Andreas" uniqKey="Jerrentrup A" first="Andreas" last="Jerrentrup">Andreas Jerrentrup</name><affiliation wicri:level="3"><nlm:aff id="Aff1">Center for undiagnosed and rare diseases, University clinic Marburg, Baldinger Str. 1, D-35043 Marburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Center for undiagnosed and rare diseases, University clinic Marburg, Baldinger Str. 1, D-35043 Marburg</wicri:regionArea><placeName><region type="land" nuts="1">Hesse (Land)</region><region type="district" nuts="2">District de Giessen</region><settlement type="city">Marbourg</settlement></placeName></affiliation></author><author><name sortKey="Bauer, Max Jakob" sort="Bauer, Max Jakob" uniqKey="Bauer M" first="Max Jakob" last="Bauer">Max Jakob Bauer</name><affiliation wicri:level="3"><nlm:aff id="Aff1">Center for undiagnosed and rare diseases, University clinic Marburg, Baldinger Str. 1, D-35043 Marburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Center for undiagnosed and rare diseases, University clinic Marburg, Baldinger Str. 1, D-35043 Marburg</wicri:regionArea><placeName><region type="land" nuts="1">Hesse (Land)</region><region type="district" nuts="2">District de Giessen</region><settlement type="city">Marbourg</settlement></placeName></affiliation></author><author><name sortKey="Fritsch, Hans Walter" sort="Fritsch, Hans Walter" uniqKey="Fritsch H" first="Hans Walter" last="Fritsch">Hans Walter Fritsch</name><affiliation wicri:level="3"><nlm:aff id="Aff2">Information technology Department, University clinic Marburg, Baldinger Str. 1, D-35043 Marburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Information technology Department, University clinic Marburg, Baldinger Str. 1, D-35043 Marburg</wicri:regionArea><placeName><region type="land" nuts="1">Hesse (Land)</region><region type="district" nuts="2">District de Giessen</region><settlement type="city">Marbourg</settlement></placeName></affiliation></author><author><name sortKey="Schaefer, Juergen Rolf" sort="Schaefer, Juergen Rolf" uniqKey="Schaefer J" first="Juergen Rolf" last="Schaefer">Juergen Rolf Schaefer</name><affiliation wicri:level="3"><nlm:aff id="Aff1">Center for undiagnosed and rare diseases, University clinic Marburg, Baldinger Str. 1, D-35043 Marburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Center for undiagnosed and rare diseases, University clinic Marburg, Baldinger Str. 1, D-35043 Marburg</wicri:regionArea><placeName><region type="land" nuts="1">Hesse (Land)</region><region type="district" nuts="2">District de Giessen</region><settlement type="city">Marbourg</settlement></placeName></affiliation></author></analytic><series><title level="j">Orphanet Journal of Rare Diseases</title><idno type="eISSN">1750-1172</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Background</title><p>Little is known about the characteristics of patients seeking help from dedicated centers for undiagnosed and rare diseases. However, information about their demographics, symptoms, prior diagnoses and medical specialty is crucial to optimize these centers’ processes and infrastructure.</p></sec><sec><title>Methods</title><p>Using a questionnaire, structured information from 522 adult patients contacting a center for undiagnosed and rare diseases was obtained. The information included basic sociodemographic data (age, gender, insurance status), previous hospital admissions, primary symptoms of complaint and previously determined diagnosis.</p></sec><sec><title>Results</title><p>The majority of patients completing the questionnaire were female, 300 (57 %) vs. 222 men (43 %). The median age was 52 years (range 18–92). More than half, 309 (59 %), of our patients had never been admitted to a university hospital. Common diagnoses included other soft tissue disorders, not classified elsewhere (ICD M79, <italic>n =</italic> 63, 15.3 %), somatoform disorders (ICD F45, <italic>n =</italic> 51, 12.3 %) and other polyneuropathies (ICD G62, <italic>n</italic>=36, 8.7 %). The most frequent symptoms were general weakness (<italic>n =</italic> 180, 36.6 %) followed by arthralgia (<italic>n =</italic> 124, 25.2 %) and abdominal discomfort (<italic>n =</italic> 113, 23.0 %). The majority of patients had either internal medicine (81.3 %) and/or neurologic (37.6 %) health problems.</p></sec><sec><title>Conclusions</title><p>Pain-associated diagnoses and the typical “unexplained” medical conditions (chronic fatigue syndrome, fibromyalgia, irritable bowel syndrome) are frequent among people contacting a center dedicated to undiagnosed diseases. The chief symptoms are mostly unspecific. An interdisciplinary organizational approach involving mainly internal medicine, neurology and psychiatry/psychosomatic care is needed.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Kohler, S" uniqKey="Kohler S">S Kohler</name></author><author><name sortKey="Schulz, Mh" uniqKey="Schulz M">MH Schulz</name></author><author><name sortKey="Krawitz, P" uniqKey="Krawitz P">P Krawitz</name></author><author><name sortKey="Bauer, S" uniqKey="Bauer S">S Bauer</name></author><author><name sortKey="Dolken, S" uniqKey="Dolken S">S Dolken</name></author><author><name sortKey="Ott, Ce" uniqKey="Ott C">CE Ott</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Thibault, Ge" uniqKey="Thibault G">GE Thibault</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Brower, V" uniqKey="Brower V">V Brower</name></author></analytic></biblStruct><biblStruct><analytic><author><name 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W">W Aberer</name></author><author><name sortKey="Fabien, V" uniqKey="Fabien V">V Fabien</name></author><author><name sortKey="Caballero, T" uniqKey="Caballero T">T Caballero</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Appadurai, V" uniqKey="Appadurai V">V Appadurai</name></author><author><name sortKey="Debarber, A" uniqKey="Debarber A">A DeBarber</name></author><author><name sortKey="Chiang, P" uniqKey="Chiang P">P Chiang</name></author><author><name sortKey="Patel, Sb" uniqKey="Patel S">SB Patel</name></author><author><name sortKey="Steiner, Rd" uniqKey="Steiner R">RD Steiner</name></author><author><name sortKey="Tyler, C" uniqKey="Tyler C">C Tyler</name></author><author><name sortKey="Bonnen, Pe" uniqKey="Bonnen P">PE Bonnen</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Yang, Y" uniqKey="Yang Y">Y Yang</name></author><author><name sortKey="Muzny, Dm" uniqKey="Muzny D">DM Muzny</name></author><author><name sortKey="Xia, F" uniqKey="Xia F">F Xia</name></author><author><name sortKey="Niu, Z" uniqKey="Niu Z">Z Niu</name></author><author><name sortKey="Person, R" uniqKey="Person R">R Person</name></author><author><name sortKey="Ding, Y" uniqKey="Ding Y">Y Ding</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Yang, Y" uniqKey="Yang Y">Y Yang</name></author><author><name sortKey="Muzny, Dm" uniqKey="Muzny D">DM Muzny</name></author><author><name sortKey="Reid, Jg" uniqKey="Reid J">JG Reid</name></author><author><name sortKey="Bainbridge, Mn" uniqKey="Bainbridge M">MN Bainbridge</name></author><author><name sortKey="Willis, A" uniqKey="Willis A">A Willis</name></author><author><name sortKey="Ward, Pa" uniqKey="Ward P">PA Ward</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ramnarayan, P" uniqKey="Ramnarayan P">P Ramnarayan</name></author><author><name sortKey="Cronje, N" uniqKey="Cronje N">N Cronje</name></author><author><name sortKey="Brown, R" uniqKey="Brown R">R Brown</name></author><author><name sortKey="Negus, R" uniqKey="Negus R">R Negus</name></author><author><name sortKey="Coode, B" uniqKey="Coode B">B Coode</name></author><author><name sortKey="Moss, P" uniqKey="Moss P">P Moss</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Allemagne</li></country><region><li>District de Giessen</li><li>Hesse (Land)</li></region><settlement><li>Marbourg</li></settlement></list><tree><country name="Allemagne"><region name="Hesse (Land)"><name sortKey="Mueller, Tobias" sort="Mueller, Tobias" uniqKey="Mueller T" first="Tobias" last="Mueller">Tobias Mueller</name></region><name sortKey="Bauer, Max Jakob" sort="Bauer, Max Jakob" uniqKey="Bauer M" first="Max Jakob" last="Bauer">Max Jakob Bauer</name><name sortKey="Fritsch, Hans Walter" sort="Fritsch, Hans Walter" uniqKey="Fritsch H" first="Hans Walter" last="Fritsch">Hans Walter Fritsch</name><name sortKey="Jerrentrup, Andreas" sort="Jerrentrup, Andreas" uniqKey="Jerrentrup A" first="Andreas" last="Jerrentrup">Andreas Jerrentrup</name><name sortKey="Schaefer, Juergen Rolf" sort="Schaefer, Juergen Rolf" uniqKey="Schaefer J" first="Juergen Rolf" last="Schaefer">Juergen Rolf Schaefer</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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