Natural course of Finnish gelsolin amyloidosis

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...

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Veröffentlicht in:Annals of medicine (Helsinki) Jg. 47; H. 6; S. 506 - 511
Hauptverfasser: Nikoskinen, Tuuli, Schmidt, Eeva-Kaisa, Strbian, Daniel, Kiuru-Enari, Sari, Atula, Sari
Format: Journal Article
Sprache:Englisch
Veröffentlicht: England Taylor & Francis 18.08.2015
Schlagworte:
Adult
Aged
Aged, 80 and over
Amyloidosis
Amyloidosis - epidemiology
Amyloidosis - genetics
Amyloidosis - metabolism
Amyloidosis - pathology
Amyloidosis, Familial - epidemiology
Amyloidosis, Familial - genetics
Amyloidosis, Familial - metabolism
Amyloidosis, Familial - pathology
Corneal Dystrophies, Hereditary - epidemiology
Corneal Dystrophies, Hereditary - genetics
Corneal Dystrophies, Hereditary - metabolism
Corneal Dystrophies, Hereditary - pathology
course
Disease Progression
familial
Female
Finland - epidemiology
Finnish type amyloidosis
Gelsolin - genetics
Gelsolin - metabolism
gelsolin-related amyloidosis
Humans
Male
Meretoja syndrome
Middle Aged
Mutation
Registries
Finland
familial
gelsolin-related amyloidosis
course
Amyloidosis
disease progression
Meretoja syndrome
Finnish type amyloidosis
ISSN:0785-3890, 1365-2060, 1365-2060
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Zusammenfassung: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 utilized 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. Carpal tunnel 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.
Bibliographie:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:0785-3890
1365-2060
1365-2060
DOI:10.3109/07853890.2015.1075063