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Hereditary Apolipoprotein A-1 Amyloidosis With Glu34Lys Mutation Treated by Liver Transplantation: A Case Report
Takaomi Sagawa1, Tomomi Kogiso1, Taito Ito1
1Department of Internal Medicine, Institute of Gastroenterology, Tokyo Women's Medical University, Tokyo, Japan.
Abstract:
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.
Insights
Hereditary apolipoprotein A-1 amyloidosis, a rare genetic disorder, caused severe liver and kidney failure in a patient. A liver transplant successfully treated the hepatic failure and reduced amyloid protein production.
Area of Science:
- Genetics
- Nephrology
- Hepatology
Background:
- Hereditary apolipoprotein A-1 (ApoA-1) amyloidosis is a rare systemic disease.
- Characterized by amyloid fibril deposition in organs like the kidney, heart, and liver.
- Caused by mutations in the APOA1 gene.
Observation:
- A 45-year-old male presented with end-stage liver failure and a history of progressive liver and kidney dysfunction.
- Pathological findings revealed extensive amyloid deposition in the liver, spleen, and testes.
- Diagnosis confirmed hereditary ApoA-1 amyloidosis due to the rare Glu34Lys mutation.
Findings:
- The patient exhibited Budd-Chiari-like liver formation and significant organomegaly (enlarged liver and spleen).
- Despite end-stage liver and renal failure, a liver transplant was performed.
- The transplant addressed hepatic failure and reduced the production of the amyloidogenic ApoA-1 variant.
Implications:
- Liver transplantation can be a viable treatment for severe hepatic manifestations of hereditary ApoA-1 amyloidosis.
- Reducing the source of amyloidogenic protein may prevent recurrence.
- Long-term monitoring for amyloid re-deposition is crucial post-transplant.
