Table 1:

Common gene variants associated with hereditary ATTR amyloidosis

	Val122Ile	Thr60Ala	Val30Met	IIe68Leu	Leu111Met
Prevalence	3–4% of African Americans	1% North-west Republic of Ireland	Most common world-wide mutation, varies depending on country, can approach 1:1000 in endemic areas	Unknown	Unknown
Presenting age (median)	>65 years	>60 years	30–40 years in endemic areas, 50–60 years in non-endemic areas.	>60 years	>30 years
Male: Female	3:1	unknown	2:1	Male predominance in affected patients, but not in mutation carriers	unknown
Ethnicity	African/Afro-Caribbean	Caucasian	Any	Caucasian	Danish
Geographical distribution	USA, Caribbean, Africa	USA, Ireland, Germany, England	Sweden, France, Portugal, Japan	Central-northern Italy	Denmark
Cardiac Phenotype	Cardiac involvement always present	Cardiac involvement in 42% of patients	Cardiac involvement is rare, more in late-onset cases (conduction disease more common)	Cardiac involvement nearly always present	Cardiac involvement always present
Extra-cardiac manifestations	PN (10%) and CTS	AN is common, PN is less common	PN and AN are common	CTS is common (42%), PN is less common (<10%)	CTS is common

AN, autonomic neuropathy; CM, cardiomyopathy; CTS, carpal tunnel syndrome; PN, peripheral neuropathy; THAOS, Transthyretin Amyloid Outcome Survey.