We evaluated the presence of amyloid deposits and clinical symptoms in 30 recipients of domino liver transplants (24 men and 6 women) who underwent DLT with liver grafts explanted from patients with ATTRv amyloidosis.
Mutations of the transthyretin (TTR) gene have been associated with polyneuropathy; the protein product has a tendency to form amyloid deposits in the peripheral nervous system.
Mutation of the TTR gene results in accumulation of TTR protein fragments as amyloid deposits throughout the organs in patients with hATTR, including the peripheral nervous system and the heart.
It is related to an altered transthyretin (TTR) plasma protein, mainly produced by the liver and responsible for amyloid deposit in the peripheral nervous system.
Nerve biopsy confirmed amyloid deposits in nerves, and molecular genetic analysis showed a mutation of the transthyretin (V30M) gene for 3 patients; the 2 other patients had acquired amyloidosis.
Vitreous amyloid deposits are one of the most common ocular manifestations of familial amyloidosis ATTRV30M (FAP-I), which can be the only manifestation of the disease and can appear even after liver transplantation.
Two male patients aged 72 and 77 were found to have transthyretin (TTR) immunoreactive amyloid deposits in their gastrointestinal tracts when they underwent surgery for gastric and sigmoid colon cancer, respectively.
Overall, the kappa light chain antiserum reacted with most of the amyloid deposits in the thyroid, whereas TTR immunoreactivity was scarcer, with a scattered appearance.
In both cases, the diagnosis was determined by the detection of amyloid deposits in skin and/or rectal biopsies and identification of TTR mutations by genetic analysis.
After confirming the immunoreactivity of TTR in the amyloid deposits using anti-TTR polyclonal antibody, a new method: centrifugal concentration and electrospray ionization mass spectrometry (ESI-MS) was employed to detect the variant TTR in the serum.