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Kidney Week

Abstract: FR-PO811

A Case of Hereditary Amyloidosis

Session Information

Category: Genetic Diseases of the Kidneys

  • 1002 Genetic Diseases of the Kidneys: Non-Cystic

Authors

  • Vigneault, Christine B., Greater Hartford Nephrology, Bloomfield, Connecticut, United States
  • Woch, Dominika, University of Connecticut, Plainville, Connecticut, United States
Introduction

Amyloidosis is a condition caused by improperly folded proteins causing end organ damage as the result of tissue deposition. The gold standard of diagnosis is by Congo red staining and fibril deposition on electron microscopy. Although both AL and AA amyloidosis are the most common presentations, inherited forms of the disease occur. A case of Fibrinogen A alpha type (Afib), a form of hereditary renal amyloidosis, is presented.

Case Description

A 72-year-old Spanish male with history of hypertension presented for evaluation of chronic kidney disease and proteinuria. At time of presentation he reported a family history of amyloidosis in his maternal cousin. Other family members affected by kidney failure included the patient’s mother, maternal aunt and maternal uncle. Assessment for monoclonal protein was negative. A kidney biopsy revealed hypertensive arteriosclerosis and amyloid deposits. Staining for AA and Lect2 were negative. Fibrinogen A amyloid was suspected given predominant glomerular fibrinogen deposits. Testing by liquid chromatography tandem mass spectrometry confirmed presence of Fibrinogen A alpha-type amyloid. Single gene analysis of the FGA gene was positive for a variant of undetermined significance. The patient was referred for genetic counseling. Genetic testing of his maternal cousin in Spain is in process.

Discussion

Hereditary amyloidosis is a group of conditions inherited in an autosomal dominant fashion and includes Afib amyloidosis. Characterized as a renal disorder, systemic disease can be present. It may occur more commonly than previously thought, mischaracterized as AL disease and occurring in dialysis cohorts.
The disease occurs as a result of hepatic production of the amyloid protein with renal deposition and progressive decline in renal function. Treatment options are limited but simultaneous liver and kidney transplant appear to be curative.
Amyloidosis presents most commonly as AL or AA forms. Hereditary amyloidosis must be considered anytime a diagnosis of systemic amyloidosis is made, as systemic involvement does occur in this disease commonly identified as renal limited. Identification of hereditary amyloidosis is important for prognosis and treatment of the disease.