Eiwitvouwziekte Amyloidosis Protein folding disease
Conditions
Interventions
Advanced glycation endproducts
AL amyloidosis
ATTR amyloidosis
Sponsors
Reumatologie en Klinische Immunologie
Eligibility
Age
18 Years to 64 Years
Inclusion criteria
Inclusion criteria: ATTR amyloidosis: - Written informed consent - Patient has genotyped TTR mutation with diagnosis of ATTR (congo red positive tissue specimen) or wild-type ATTR amyloidosis (confirmed TTR amyloid by immunohistochemistry without mutation in TTR gene).;AL amyloidosis: - Written informed consent - Congo red positive tissue specimen and the presence of a clonal plasma cell dyscrasia. Plasma cell dyscrasia is diagnosed when a free kappa or lambda light chain is detected in serum of urine by immunofixation electrophoresis or when a relative excess of cells producing one of the two light chains is detected in bone marrow.
Exclusion criteria
Exclusion criteria: None
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Skin autofluorescence as measure of AGE accumulation. | — |
Secondary
| Measure | Time frame |
|---|---|
| Skin autofluorescence will be related to: - Amyloid load in fat tissue (semi-quantitative scored Congo red-stained abdominal fat smears) - SAP-scintigraphy as a mark of amyloid load of the body. - Levels of C-reactive protein, creatinine and HbA1c. | — |
Countries
The Netherlands
Outcome results
None listed