Tiribelli C

Language: English
References: 0
Page: 149
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Text Extraction

Transthyretin Familial Amyloidotic
Polyneuropathy: Histopatological Study
on the Explanted Liver, by Amante M et al.

This paper reports on the hystopatological findings observed in 10 livers explanted from patients affected by Familial Amyloidotic Polyneuropathy (FAP). This rare disease (gene frequency 1 in 10⁵-10⁶) is related to the synthesis of an altered Transthyretin (TTR, formerly pre-albumin) due to a Val to Met substitution at position 30. What is intriguing is the number of patients with FAP observed which actually accounts for about 5% of the indication for liver transplantation. This gives the opportunity to have a very privileged observatory to better define the pathological alteration of this disease. Both the gross appearance and the histology of the liver were normal with the exception of minor deposition of TTR fibrils in intrahepatic septa. On the contrary, heavier deposition was observed in lymph nodes and in the nerves of hilum hepaticus, confirming that the disease is not affecting the liver itself. This study raises the interesting issue of why patients with FAP should be transplanted and if the explanted liver can be used in other patients (the so called “Domino effect”). Transplanted liver will remove the TTR alteration but the sick liver will start producing the altered protein in the recipient. Though it is true that FAP needs time to develop, how happy would be a young subject with advanced liver disease to face FAP within the next 20 years? This points even more for the need of gene therapy where cells rather organs are transplanted.