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.