From the Guidelines
The medical specialist who takes care of a person with familial amyloidosis due to a TTR gene mutation is typically a multidisciplinary team including cardiologists, neurologists, and geneticists, with liver transplantation being managed by a hepatologist or transplant surgeon. The management approach for a patient with familial amyloidosis due to a Transthyretin (TTR) gene mutation involves a multifaceted approach targeting the underlying disease process, as outlined in the 2023 ACC expert consensus decision pathway on comprehensive multidisciplinary care for the patient with cardiac amyloidosis 1.
Treatment Options
- TTR stabilizers such as tafamidis (20 mg daily) or diflunisal (250 mg twice daily) can prevent TTR protein misfolding and subsequent amyloid formation.
- For patients with polyneuropathy, patisiran (0.3 mg/kg IV every 3 weeks) or inotersen (300 mg subcutaneous weekly) can be used as RNA-targeting therapies to reduce TTR production, as recommended in the 2023 ACC expert consensus decision pathway 1.
- Liver transplantation remains an option for selected patients with early-stage disease to eliminate the primary source of mutant TTR, as suggested by the EASL clinical practice guidelines on liver transplantation 1.
Supportive Care
- Supportive care is essential and includes managing specific organ involvement:
- Cardiac symptoms with diuretics and rhythm control
- Neuropathic pain with gabapentin or pregabalin
- Autonomic dysfunction with compression stockings, midodrine, or fludrocortisone
- Regular monitoring of cardiac, neurologic, and renal function is crucial, with echocardiograms, nerve conduction studies, and proteinuria assessments every 6-12 months, as recommended in the 2023 ACC expert consensus decision pathway 1.
Multidisciplinary Approach
- A multidisciplinary approach involving cardiologists, neurologists, and geneticists provides optimal care for these patients with this complex, progressive condition, as outlined in the 2023 ACC expert consensus decision pathway on comprehensive multidisciplinary care for the patient with cardiac amyloidosis 1.
- Early diagnosis and treatment are vital as these therapies primarily slow disease progression rather than reverse existing damage.
From the FDA Drug Label
The FDA drug label does not answer the question.
From the Research
Medical Specialist for Familial Amyloidosis
The medical specialist who takes care of a person with familial amyloidosis due to a Transthyretin (TTR) gene mutation is typically a:
- Neurologist, as the disease often manifests as a polyneuropathy 2, 3, 4
- Cardiologist, as cardiac disorders are frequently associated with the disease 2, 3, 4
- Geneticist, as the disease is caused by a genetic mutation and has an autosomal dominant inheritance pattern 2, 3, 4
- Nephrologist, as kidney involvement is a common feature of the disease 5
Management Approach
The management approach for a patient with familial amyloidosis due to a TTR gene mutation includes:
- Liver transplantation, which is the current standard first-line treatment for hereditary ATTR amyloidosis 2, 3, 6
- TTR stabilizers, such as tafamidis and diflunisal, which have been shown to slow disease progression 2, 3, 6
- Gene-silencing therapies, such as patisiran and inotersen, which have been shown to reduce TTR amyloid and slow disease progression 3, 4, 6
- Monitoring of kidney function, as kidney involvement is a common feature of the disease and some treatments may have nephrotoxic effects 5