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Hereditary transthyretin amyloidosis in Sweden: Comparisons between a non-endemic and an endemic region
Department of Neurology, Karolinska University Hospital, Stockholm, Sweden; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Department of Neurology, Karolinska University Hospital, Stockholm, Sweden.
Umeå universitet, Medicinska fakulteten, Institutionen för folkhälsa och klinisk medicin, Avdelningen för medicin.
Umeå universitet, Medicinska fakulteten, Wallenberg centrum för molekylär medicin vid Umeå universitet (WCMM). Umeå universitet, Medicinska fakulteten, Institutionen för folkhälsa och klinisk medicin, Avdelningen för medicin.ORCID-id: 0000-0003-2874-7643
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2022 (engelsk)Inngår i: Amyloid: Journal of Protein Folding Disorders, ISSN 1350-6129, E-ISSN 1744-2818, Vol. 29, nr 4, s. 220-227Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

Introduction: Hereditary transthyretin amyloidosis (ATTRv) is endemic in northern Sweden (Västerbotten). The awareness of ATTRv amyloidosis is lower in Stockholm, a non-endemic region in Sweden. The aim of this study was to compare the possible differences in diagnostic delay, disease phenotypes, treatment and survival between a non-endemic and an endemic region in Sweden.

Methods: The in- and outpatient diagnosis registry at the Department of Neurology at Karolinska University Hospital and the Amyloidosis Centre at University Hospital of Umeå were used to identify patients between January 2006 and November 2017.

Results: In total, 21 patients in Stockholm and 134 patients in Västerbotten were included. The time between symptom onset to time-point of diagnosis was significantly longer in Stockholm vs Västerbotten. This corresponded to a longer median time between first visit at amyloidosis centre to time-point of diagnosis in Stockholm vs in Västerbotten. The most common reason for a diagnostic delay was negative tissue biopsies.

Conclusion: There was a diagnostic-, but no patient-delay in non-endemic Stockholm vs endemic Västerbotten. Despite a more severe neuropathic phenotype in Stockholm at the onset, the systemic affection over the course of disease and of survival seems not to be influenced by the diagnosis delay in Stockholm.

sted, utgiver, år, opplag, sider
Taylor & Francis, 2022. Vol. 29, nr 4, s. 220-227
Emneord [en]
amyloid polyneuropathy, Amyloidosis, diagnosis delay, endemic, transthyretin
HSV kategori
Identifikatorer
URN: urn:nbn:se:umu:diva-194889DOI: 10.1080/13506129.2022.2065191ISI: 000786511100001PubMedID: 35438016Scopus ID: 2-s2.0-85129232924OAI: oai:DiVA.org:umu-194889DiVA, id: diva2:1665141
Forskningsfinansiär
Pfizer ABTilgjengelig fra: 2022-06-07 Laget: 2022-06-07 Sist oppdatert: 2023-05-22bibliografisk kontrollert

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