Familial amyloidotic polyneuropathy: long-term follow-up of abdominal fat tissue aspirate in patients with and without liver transplantation

Abstract

To estimate the evolution of amyloid in tissue, we studied abdominal fat aspirates of cases with familial amyloidotic polyneuropathy (FAP) longitudinally at regular intervals between 1994 and 2006. In 22 cases (13 carriers and nine patients) not yet transplanted median follow-up was 3.3 years (range 0.4–11.3). We found a significant increase in the amyloid grade of fat tissue from 2+ to 4+ and from 0 to 4+ in two of three subjects with follow-ups of >7 years, after 7 and 11 years, respectively. All other subjects remained negative or did not show a significant change. In 11 liver transplant patients, follow-up with fat aspirate was available with a median duration of 3.1 years (range 1.0–10.1). A comparison was made with cardiac amyloid as judged by the cardiac septum diameter and the serum NT-ProBNP (N-terminal pro-B-type natriuretic peptide) level. No stable increase of amyloid in fat was seen in any patient. A stable decrease of amyloid grade was seen in one patient 5 years after transplantation. In contrast, the cardiac septum diameter increased ≥4 mm in six of the 11 transplant patients. Our study shows the diagnostic utility of a regularly repeated fat aspirate in carriers at risk for the development of ATTR amyloidosis. Evolution of amyloid deposition in fat tissue is very gradual. After liver transplantation, amyloid deposition in fat tissue seems to stabilize and may even decrease in the long term, whereas amyloid deposition in cardiac tissue appears to be progressive.

Keywords:

• Transthyretin
• inherited amyloidosis
• abdominal fat aspirate
• liver transplantation

Abbreviations
FAP	=	familial amyloidotic polyneuropathy;
TTR	=	transthyretin;
Gly	=	glycine;
Glu	=	glutamic acid;
Val	=	valine;
Met	=	methionine;
Tx	=	liver transplantation;
NT-ProBNP	=	N-terminal pro-B-type natriuretic peptide

Abbreviations
FAP	=	familial amyloidotic polyneuropathy;
TTR	=	transthyretin;
Gly	=	glycine;
Glu	=	glutamic acid;
Val	=	valine;
Met	=	methionine;
Tx	=	liver transplantation;
NT-ProBNP	=	N-terminal pro-B-type natriuretic peptide