Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II study
Abstract Background Hereditary gelsolin (AGel) amyloidosis is an autosomal dominantly inherited systemic amyloidosis that manifests with the characteristic triad of progressive ophthalmological, neurological and dermatological signs and symptoms. The National Finnish Gelsolin Amyloidosis Registry (F...
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| Format: | Article |
| Language: | English |
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BMC
2020-01-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-020-1300-5 |
| _version_ | 1811270960201859072 |
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| author | Eeva-Kaisa Schmidt Tuuli Mustonen Sari Kiuru-Enari Tero T. Kivelä Sari Atula |
| author_facet | Eeva-Kaisa Schmidt Tuuli Mustonen Sari Kiuru-Enari Tero T. Kivelä Sari Atula |
| author_sort | Eeva-Kaisa Schmidt |
| collection | DOAJ |
| description | Abstract Background Hereditary gelsolin (AGel) amyloidosis is an autosomal dominantly inherited systemic amyloidosis that manifests with the characteristic triad of progressive ophthalmological, neurological and dermatological signs and symptoms. The National Finnish Gelsolin Amyloidosis Registry (FIN-GAR) was founded in 2013 to collect clinical data on patients with AGel amyloidosis, including altogether approximately one third of the Finnish patients. We aim to deepen knowledge on the disease burden and life span of the patients using data from the updated FIN-GAR registry. We sent an updated questionnaire concerning the symptoms and signs, symptomatic treatments and subjective perception on disease progression to 240 members of the Finnish Amyloidosis Association (SAMY). We analyzed the lifespan of 478 patients using the relative survival (RS) framework. Results The updated FIN-GAR registry includes 261 patients. Symptoms and signs corresponding to the classical triad of ophthalmological (dry eyes in 93%; corneal lattice amyloidosis in 89%), neurological (numbness, tingling and other paresthesias in 75%; facial paresis in 67%), and dermatological (drooping eyelids in 86%; cutis laxa in 84%) manifestations were highly prevalent. Cardiac arrhythmias were reported by 15% of the patients and 5% had a cardiac pacemaker installed. Proteinuria was reported by 13% and renal failure by 5% of the patients. A total of 65% of the patients had undergone a skin or soft tissue surgery, 26% carpal tunnel surgery and 24% at least unilateral cataract surgery. As regards life span, relative survival estimates exceeded 1 for males and females until the age group of 70–74 years, for which it was 0.96. Conclusions AGel amyloidosis causes a wide variety of ophthalmological, neurological, cutaneous, and oral symptoms that together with repeated surgeries cause a clinically significant disease burden. Severe renal and cardiac manifestations are rare as compared to other systemic amyloidoses, explaining in part the finding that AGel amyloidosis does not shorten the life span of the patients at least for the first 75 years. |
| first_indexed | 2024-04-12T22:12:43Z |
| format | Article |
| id | doaj.art-1ec4b274c5604c4e8dc6475a521e6a85 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-04-12T22:12:43Z |
| publishDate | 2020-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-1ec4b274c5604c4e8dc6475a521e6a852022-12-22T03:14:41ZengBMCOrphanet Journal of Rare Diseases1750-11722020-01-0115111310.1186/s13023-020-1300-5Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II studyEeva-Kaisa Schmidt0Tuuli Mustonen1Sari Kiuru-Enari2Tero T. Kivelä3Sari Atula4Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University HospitalClinical Neurosciences, Neurology, University of Helsinki and Helsinki University HospitalClinical Neurosciences, Neurology, University of Helsinki and Helsinki University HospitalDepartment of Ophthalmology, University of Helsinki and Helsinki University HospitalClinical Neurosciences, Neurology, University of Helsinki and Helsinki University HospitalAbstract Background Hereditary gelsolin (AGel) amyloidosis is an autosomal dominantly inherited systemic amyloidosis that manifests with the characteristic triad of progressive ophthalmological, neurological and dermatological signs and symptoms. The National Finnish Gelsolin Amyloidosis Registry (FIN-GAR) was founded in 2013 to collect clinical data on patients with AGel amyloidosis, including altogether approximately one third of the Finnish patients. We aim to deepen knowledge on the disease burden and life span of the patients using data from the updated FIN-GAR registry. We sent an updated questionnaire concerning the symptoms and signs, symptomatic treatments and subjective perception on disease progression to 240 members of the Finnish Amyloidosis Association (SAMY). We analyzed the lifespan of 478 patients using the relative survival (RS) framework. Results The updated FIN-GAR registry includes 261 patients. Symptoms and signs corresponding to the classical triad of ophthalmological (dry eyes in 93%; corneal lattice amyloidosis in 89%), neurological (numbness, tingling and other paresthesias in 75%; facial paresis in 67%), and dermatological (drooping eyelids in 86%; cutis laxa in 84%) manifestations were highly prevalent. Cardiac arrhythmias were reported by 15% of the patients and 5% had a cardiac pacemaker installed. Proteinuria was reported by 13% and renal failure by 5% of the patients. A total of 65% of the patients had undergone a skin or soft tissue surgery, 26% carpal tunnel surgery and 24% at least unilateral cataract surgery. As regards life span, relative survival estimates exceeded 1 for males and females until the age group of 70–74 years, for which it was 0.96. Conclusions AGel amyloidosis causes a wide variety of ophthalmological, neurological, cutaneous, and oral symptoms that together with repeated surgeries cause a clinically significant disease burden. Severe renal and cardiac manifestations are rare as compared to other systemic amyloidoses, explaining in part the finding that AGel amyloidosis does not shorten the life span of the patients at least for the first 75 years.https://doi.org/10.1186/s13023-020-1300-5GelsolinAmyloidosisAGelHereditary amyloidosisMeretoja syndromeNatural history |
| spellingShingle | Eeva-Kaisa Schmidt Tuuli Mustonen Sari Kiuru-Enari Tero T. Kivelä Sari Atula Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II study Orphanet Journal of Rare Diseases Gelsolin Amyloidosis AGel Hereditary amyloidosis Meretoja syndrome Natural history |
| title | Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II study |
| title_full | Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II study |
| title_fullStr | Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II study |
| title_full_unstemmed | Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II study |
| title_short | Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II study |
| title_sort | finnish gelsolin amyloidosis causes significant disease burden but does not affect survival fin gar phase ii study |
| topic | Gelsolin Amyloidosis AGel Hereditary amyloidosis Meretoja syndrome Natural history |
| url | https://doi.org/10.1186/s13023-020-1300-5 |
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