Causes of death and life span in Finnish gelsolin amyloidosis

Abstract

Background: Finnish type of hereditary gelsolin amyloidosis (AGel amyloidosis) is an autosomal dominant disorder. Until recently, there has only been little knowledge of fatal complications of the disease and its possible impact on the patients’ life span.

Methods: We identified 272 deceased patients based on patient interviews and genealogical data. After collecting their death certificates, we recorded the patients’ underlying and immediate causes of death (CoD) and life span and compared them to the general Finnish population. We then calculated proportional mortality ratios (PMR), standardised for age and sex, for the CoDs.

Results: The underlying CoD in 20% of the patients was AGel amyloidosis (PMR = 114.2; 95% CI: 85.6–149.4). The frequency of fatal cancers (10%) was significantly diminished (PMR = 0.47; 95% CI: 0.31–0.69). Renal complications were overrepresented as the immediate CoD in female patients (PMR = 2.82 95% CI: 1.13–5.81). The mean life span for male patients was 73.9 years (95% CI: 72.0–75.6) and 78.0 years for female patients (95% CI: 76.4–79.5) compared to 72.1 and 80.1 years for the general population.

Conclusions: Our results suggest that the disease increases the risk of fatal renal complications but does not substantially shorten the life span, possibly due to the significantly lower frequency of fatal cancers.

Key Messages

• AGel amyloidosis may increase the risk of renal complications, especially among female patients. The frequency of fatal cancers is significantly lower. The patients’ life span is comparable to that of the general population.

Keywords:

• Amyloidosis
• cause of death
• Finnish type amyloidosis
• gelsolin amyloidosis
• life span
• Meretoja’s disease

Acknowledgements

We thank our Finnish AGel amyloidosis patients and their patient organisation SAMY for their considerable support during this study.

Disclosure statement

The authors report no conflicts of interest.

Funding information

We are grateful to the Kymenlaakso Regional Fund of the Finnish Cultural Foundation [35151358], the Helsinki University Hospital Research Fund [TYH2014111] and to Finska Läkaresällskapet for their financial support. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.