A 54-year-old man with polycystic liver disease received a domino liver transplantation (DLT) from a patient of hereditary ATTR amyloidosis with the transthyretin Ser50Arg mutation. Ten years after transplantation, he felt a slight numbness in his toes, and cardiac amyloidosis was simultaneously suspected upon a heart function evaluation. Biopsy specimens from the myocardium revealed transthyretin amyloidosis with the Ser50Arg mutation. Oral tafamidis therapy has inhibited the progression of neurological and cardiovascular symptoms this far. We herein report this first case of amyloid polyneuropathy and myocardial amyloidosis after DLT from hereditary ATTR amyloidosis with a transthyretin Ser50Arg mutation and discuss similar cases of other mutations.
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| http://dx.doi.org/10.2169/internalmedicine.8434-16 | DOI Listing |
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A 54-year-old man with polycystic liver disease received a domino liver transplantation (DLT) from a patient of hereditary ATTR amyloidosis with the transthyretin Ser50Arg mutation. Ten years after transplantation, he felt a slight numbness in his toes, and cardiac amyloidosis was simultaneously suspected upon a heart function evaluation. Biopsy specimens from the myocardium revealed transthyretin amyloidosis with the Ser50Arg mutation.
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Article Synopsis
- The study examines the transthyretin amyloidosis (ATTR) in patients with the Ser50Arg mutation, highlighting its genetic diversity and potential gender differences in disease severity.
- It involved seven families and found that a significant percentage of affected individuals, particularly men, displayed symptoms earlier and with more severity compared to women.
- The results suggest that the Ser50Arg mutation leads to a more aggressive form of the disease in males and indicates possible anticipation, where later generations experience symptoms at a younger age.
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