Hereditary Apolipoprotein A-1 Amyloidosis With Glu34Lys Mutation Treated by Liver Transplantation: A Case Report

Transplant Proc. 2021 May;53(4):1327-1332. doi: 10.1016/j.transproceed.2020.11.012. Epub 2021 Feb 9.


Hereditary apolipoprotein A-1 (ApoA-1) amyloidosis is a rare disease characterized by progressive deposition of amyloid fibrils in the kidney, heart, and liver. We observed a 45-year-old male patient with liver failure. Liver dysfunction was detected at 30 years of age during an annual health check-up. At 35 years of age, renal dysfunction was also found. At 40 years of age, the pathologic findings of the liver revealed amyloid deposition. A testis biopsy specimen taken at 42 years of age to identify the cause of male infertility showed amyloid accumulation. At 43 years of age, the amyloid results and genetic profile led to a definitive diagnosis of hereditary ApoA-1 amyloidosis caused by Glu34Lys mutation. A family history was absent. Liver failure showed Budd-Chiari-like formation, including enlargement of the caudate lobe and liver congestion. Although the patient showed end-stage liver cirrhosis and renal failure, only liver transplant was performed considering the burden for a living donor. The enlarged liver (4.9 kg) showed amyloid deposition in parenchyma and the space of Disse. Amyloid also accumulated in the giant spleen. The APOA1 mutation Glu34Lys is extremely rare, and in this case hepatic failure was successfully treated by liver transplant to both replace organ function and reduce production of the amyloidogenic ApoA-1-variant protein. Careful observation for reaccumulation of amyloidosis in the organ is required.

Publication types

  • Case Reports

MeSH terms

  • Abdomen / diagnostic imaging
  • Amyloidosis, Familial / diagnosis*
  • Amyloidosis, Familial / genetics
  • Amyloidosis, Familial / surgery
  • Apolipoprotein A-I / genetics*
  • Humans
  • Liver / pathology
  • Liver Failure / surgery
  • Liver Transplantation*
  • Living Donors
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Spleen / pathology
  • Tomography, X-Ray Computed
  • Ultrasonography


  • Apolipoprotein A-I