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AL amyloidosis is a rare disease; only 1200 to 3200 new cases are reported each year in the United States, and between 500 and 600 in the UK. Two thirds of patients with AL amyloidosis are male and less than 5% of patients are under 40 years of age. [6] [19] [9]
Amyloidosis has a combined estimated prevalence of 30 per 100,000 persons with the three most common forms being AL, ATTR, and AA. [49] The median age at diagnosis is 64. [11] AL has the highest incidence at approximately 12 cases per million persons per year and an estimated prevalence of 30,000 to 45,000 cases in the US and European Union ...
Amyloidosis is confirmed by histological identification of amyloid deposits. At this point, amyloid typing with immunochemical staining is necessary, as the differential diagnosis includes AA amyloidosis, AL amyloidosis, hereditary amyloidosis, dialysis-related amyloidosis and age-related systemic amyloidosis.
The vast majority of familial cardiac amyloidosis still present after the age of 60. [4] A common mutation is the TTR gene mutation Val122Ile. [2] It is estimated that 3.5–4% of African Americans in The United States have the Val 122lle mutation. [4] This type of amyloidosis can be identified by genetic testing for protein mutation. [4]
The onset of FAC caused by aggregation of the V122I mutation and wild-type TTR, and senile systemic amyloidosis caused by the exclusive aggregation of wild-type TTR, typically occur after age 60. Greater than 40% of these patients present with carpal tunnel syndrome before developing ATTR-CM.
Wild-type transthyretin amyloid (WTTA), also known as senile systemic amyloidosis (SSA), [1] is a disease that typically affects the heart and tendons of elderly people. It is caused by the accumulation of a wild-type (that is to say a normal ) protein called transthyretin .