| الوصف: |
Introduction hereditary transthyretin amyloidosis (hATTR) is a rare progressive autosomal-dominant disorder of protein metabolism caused by the mutated transthyretin (TTR) gene. It is a systemic disease with a variable phenotype due to the more than 100 different mutations in the TTR gene, the Val30Met variant being by far the most common. Amyloidogenic forms of TTR are insoluble aggregated fibrils, accumulated in the extracellular matrix, resulting in morphological and functional impairment. Most commonly hATTR is associated with sensorimotor peripheral neuropathy, autonomic dysfunction, and impaired cardiac function. Other organs that are often affected include the kidneys, eyes, and gastrointestinal tract. Hepatocytes synthesize 98% of TTR, and liver transplantation (LT) has been considered as a treatment option. Case report We present a case of a 56-years-old male patient who underwent LT in July 2022. His family history was positive for hATTR ; the diagnosis was confirmed in 2017 with a subcutaneous fat biopsy and genetic testing that showed Asp38Glu mutation. His past medical history revealed a heart transplant in May 2019 due to restrictive cardiomyopathy, peripheral sensorimotor neuropathy, parasympathetic autonomic dysfunction, and chronic kidney disease. LT postoperative course was unremarkable, and his immunosuppression consisted of steroids, mycophenolate mofetil, and tacrolimus. His short-term follow-up is unremarkable. Discussion/Conclusion In the case of hATTR, LT is implemented as a disease- modifying therapy hoping to slow disease progression in the future. A longer follow-up is needed to demonstrate the benefit of LT. However, potential short- and long-term transplant-related complications direct a need for better treatment options. |
