Overview
Familial visceral amyloidosis, Ostertag type, is a hereditary systemic amyloidosis characterized by amyloid deposits primarily affecting the heart, leading to progressive cardiac dysfunction and often accompanied by neurological symptoms. 3Diagnosis
Clinical Presentation: Progressive peripheral neuropathy, cardiac involvement (conduction disturbances, heart block, sinus node dysfunction), and autonomic dysfunction. 124
Electrocardiography (ECG): Abnormalities such as reduced voltage and conduction defects. 1
Echocardiography: Evidence of left ventricular wall thickening and increased left ventricular mass. 1
Histological Examination: Confirmation of amyloid deposits in tissue biopsies, particularly in cardiac and autonomic nervous system structures. 2
Genetic Testing: Identification of specific transthyretin mutations (e.g., Glu42Gly, Ala36Pro, Val30Met) associated with disease progression. 1Management
Liver Transplantation: Definitive therapy for slowing disease progression, particularly beneficial for cardiac involvement. 1
Pacemaker Implantation: Indicated for atrioventricular block, sinus node dysfunction, and symptomatic bradycardia. 45
Symptomatic Treatment: Management of heart failure symptoms, arrhythmias, and neuropathy with supportive care measures.
Monitoring: Regular ECG, echocardiography, and clinical assessments to track disease progression despite transplantation. 1Special Populations
Cardiac Involvement: Common across all age groups, necessitating close monitoring and potential pacemaker use in elderly patients. 45
Comorbidities: Patients with coexisting autonomic dysfunction may require additional management strategies for orthostatic hypotension. 2Key Recommendations
Liver Transplantation for Cardiac Involvement: Consider liver transplantation for patients with significant cardiac amyloidosis to potentially slow disease progression. (Evidence: Moderate 1)
Pacemaker for Conduction Abnormalities: Implant pacemakers in patients with symptomatic atrioventricular block or sinus node dysfunction. (Evidence: Moderate 45)
Regular Cardiac Monitoring: Implement routine ECG and echocardiographic monitoring post-transplantation to assess for continued cardiac amyloid deposition despite cessation of mutant protein production. (Evidence: Weak 1)References
1 Dubrey SW, Davidoff R, Skinner M, Bergethon P, Lewis D, Falk RH. Progression of ventricular wall thickening after liver transplantation for familial amyloidosis. Transplantation 1997. link
2 Kiuru S, Matikainen E, Kupari M, Haltia M, Palo J. Autonomic nervous system and cardiac involvement in familial amyloidosis, Finnish type (FAF). Journal of the neurological sciences 1994. link90092-2)
3 Varga J, Wohlgethan JR. The clinical and biochemical spectrum of hereditary amyloidosis. Seminars in arthritis and rheumatism 1988. link90031-5)
4 Eriksson P, Olofsson BO. Pacemaker treatment in familial amyloidosis with polyneuropathy. Pacing and clinical electrophysiology : PACE 1984. link
5 Olofsson BO, Eriksson P, Eriksson A. The sick sinus syndrome in familial amyloidosis with polyneuropathy. International journal of cardiology 1983. link90217-6)