Natural course of Finnish gelsolin amyloidosis

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http://urn.fi/URN:NBN:fi:hulib-201512164049
Julkaisun nimi: Natural course of Finnish gelsolin amyloidosis
Tekijä: Nikoskinen, Tuuli; Schmidt, Eeva-Kaisa; Strbian, Daniel; Kiuru-Enari, Sari; Atula, Sari
Muu tekijä: Helsingin yliopisto, Lääketieteellinen tiedekunta
University of Helsinki, Faculty of Medicine
Helsingfors universitet, Medicinska fakulteten
Julkaisija: Helsingfors universitet
Päiväys: 2015
Kieli: eng
URI: http://urn.fi/URN:NBN:fi:hulib-201512164049
http://hdl.handle.net/10138/159500
Opinnäytteen taso: pro gradu -tutkielmat
Oppiaine: Neurology
Neurologia
Neurologi
Tiivistelmä: 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.
Avainsanat: amyloidosis
course
disease progression
familial
Finnish type amyloidosis
gelsolin-related amyloidosis
Meretoja syndrome


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