Short summary

A retrospective, blinded study is performed to examine the value of immuno-electron microscopy (IEM) and mass spectrometry (MS) in the diagnosis and classification of amyloidosis. Based on the total material of approximately 250-280 biopsies, about 140 from amyloidosis patients and about 120 normal subjects (normal tissue biopsies), the sensitivity, specificity, positive and negative predictive values of the methods are calculated. This is done both on the entire material and at organ specific level (heart, kidney, liver, lung, intestine, skin, bone marrow). 

Rationale

Amyloidosis is a rare and severe disease caused by extracellular deposition of amyloid substance. Several very different diseases can be responsible for amyloid deposition, and a precise characterisation of the amyloid is mandatory for optimized treatment of the patients. In this study we compare two new diagnostic modalities, immuno-electron microscopy (IEM) and mass spectrometry (MS) for their diagnostics sensitivity, specificity, and positive and negative predictive methods.  

The methods used in the study are already established at Odense University Hospital in 2018. The goal is to improve the diagnosis of amyloidosis. 

Description of the cohort

Adult patients diagnosed with amyloid in tissue biopsies. More specific diagnoses may cause this, hematological, rheumatological, renal disease and senile conditions.

The biopsy material will, in most cases, originate from deceased patients. A few patients are expected to be alive. The IEM and MS results will in these patients be compared to the former clinical diagnosis in these patients. If new information has emerged that will change the ongoing treatment or follow-up of these patients, they will be contacted by the project manager. This means, that for some patients findings may occur that may lead to a different treatment.

Data and biological material

Biopsies with and without known amyloid substance content and register data (biochemical analyses, organ involvement, comorbidity, treatment responses, survival).

Collaborating researchers and departments

Department of Haematology, Odense University Hospital

• Professor Niels Abildgaard
• Staff specialist Charlotte Toftmann Hansen, PhD

Department of Clinical Biochemistry and Pharmacology, Odense University Hospital

• Associate professor Hans Christian Bech, PhD

Department of Pathology, Odense University Hospital

• Professor Niels Marcussen
• Consultant Hanne E. Møller, PhD
• Associate professor Aleksandra Rojek