[Familial amyloid polyneuropathies: therapeutic issues]

Area of Science:

• Neurology
• Cardiology
• Genetics

Background:

• Familial amyloid polyneuropathies (FAP) present complex challenges requiring integrated neurologic and cardiologic management.
• Systemic amyloidogenesis and organ damage (heart, eyes, kidneys) necessitate specific therapeutic strategies.

Purpose of the Study:

• To outline current and emerging treatments for FAP, focusing on managing neuropathy and organ involvement.
• To emphasize the role of liver transplantation and novel pharmacotherapies in FAP management.

Main Methods:

• Review of current treatment protocols for FAP, including liver transplantation (LT) and pharmacologic interventions.
• Discussion of emerging therapies such as TTR stabilizers (Tafamidis), RNA interference, and antisense oligonucleotides.
• Emphasis on diagnostic approaches including familial screening and regular clinical assessments.

Main Results:

• Liver transplantation (LT) is the first-line treatment for met30 TTR-FAP, significantly halting neuropathy progression and improving survival.
• Tafamidis demonstrates short-term efficacy in early-stage met30 TTR-FAP peripheral neuropathy.
• Innovative therapies targeting TTR production and amyloid deposits are under development for FAP patients.

Conclusions:

• Multidisciplinary management is crucial for FAP patients, addressing neurologic, cardiologic, and systemic manifestations.
• Early diagnosis through familial screening and timely initiation of specific therapies, including LT and novel drugs, are essential for improved outcomes.
• Ongoing research into innovative treatments is vital for patients unresponsive to current therapies or with late-onset/non-met30 FAP.