It is a form of amyloidosis, and was first identified and described by Portuguese neurologist Mário Corino da Costa Andrade, in 1952.

[3] FAP is distinct from senile systemic amyloidosis (SSA), which is not inherited, and which was determined to be the primary cause of death for 70% of supercentenarians who have been autopsied.

Diagnosis can be made using genetic testing to identify mutations in the TTR gene, but may include other corroborative investigation.

[6] Nerve conduction testing typically shows an axonal polyneuropathy, with sensory involvement greater than motor.

[7] Occasionally, biopsy of skin, nerve, or muscle may be performed, which can show signs of denervation and amyloid deposition with response to anti-TTR antibodies.

[16] In August 2021 six patients with hereditary ATTR amyloidosis with polyneuropathy were given doses of NTLA-2001, based on a CRISPR gene editing system.

Researchers reported mild adverse events and decreases in serum misfolded transthyretin protein concentrations through targeted knockout.

[citation needed] In late 2011, the European Medicines Agency approved the transthyretin kinetic stabilizer Tafamidis or Vyndaqel discovered by Jeffery W. Kelly and developed by FoldRx pharmaceuticals (acquired by Pfizer in 2010) for the treatment of FAP based on clinical trial data.