Natural course of Finnish gelsolin amyloidosis

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dc.contributor Helsingin yliopisto, Lääketieteellinen tiedekunta fi
dc.contributor University of Helsinki, Faculty of Medicine en
dc.contributor Helsingfors universitet, Medicinska fakulteten sv
dc.contributor.author Nikoskinen, Tuuli
dc.contributor.author Schmidt, Eeva-Kaisa
dc.contributor.author Strbian, Daniel
dc.contributor.author Kiuru-Enari, Sari
dc.contributor.author Atula, Sari
dc.date.issued 2015
dc.identifier.uri URN:NBN:fi:hulib-201512164049
dc.identifier.uri http://hdl.handle.net/10138/159500
dc.description.abstract Background: Finnish type of hereditary gelsolin amyloidosis (FGA) is one of the most common diseases of Finnish disease heritage. Existing FGA knowledge is based only on smaller patient series, so our aim was to elucidate the natural course of the disease in a comprehensive sample of patients and to build up a national FGA patient registry. Methods: An inquiry about the known and suspected signs of FGA, sent to the members of Finnish Amyloidosis Association, telephone contacts and hospital records were utilised to create the registry. Results: A total of 227 patients were entered to the database. The first symptom was ophthalmological for 167 patients (73.6%) at the mean age of 39 years. Corneal lattice dystrophy (CLD) was reported at the mean age of 43 years. Impaired vision, polyneuropathy, facial nerve paresis and cutis laxa appeared on average between 52 and 57 years. Carpaltunnel syndrome (CTS) was reported by 86 patients (37.9%). Nine patients (4.0%) had a pacemaker and 12 (6.1%) had cardiomyopathy. Conclusions: The first symptom was ophthalmological in most cases. Except for CLD, no prominent difference in the age of appearance was found between the major symptoms. CTS, cardiac pacemakers and cardiomyopathy were remarkably more common compared to the general population. en
dc.language.iso eng
dc.publisher Helsingfors universitet sv
dc.publisher University of Helsinki en
dc.publisher Helsingin yliopisto fi
dc.subject amyloidosis en
dc.subject course en
dc.subject disease progression en
dc.subject familial en
dc.subject Finnish type amyloidosis en
dc.subject gelsolin-related amyloidosis en
dc.subject Meretoja syndrome en
dc.title Natural course of Finnish gelsolin amyloidosis en
dc.type.ontasot pro gradu-avhandlingar sv
dc.type.ontasot pro gradu -tutkielmat fi
dc.type.ontasot master's thesis en
dc.subject.discipline Neurology en
dc.subject.discipline Neurologia fi
dc.subject.discipline Neurologi sv
dct.identifier.urn URN:NBN:fi:hulib-201512164049

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