PrP systemic amyloidosis

PrP systemic amyloidosis is an extremely rare genetic disorder that was previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy. People with this condition are reported in a few families from Britain, Japan, and Italy, with about 16 cases in total. The condition usually begins in the fourth decade of life and has a long course lasting around 20 years. This disorder is marked by symptoms such as severe diarrhea, nausea, and problems with the autonomic nervous system. It involves the deposition of amyloid made of misfolded prion protein, which can affect various body systems.

Common symptoms include chronic diarrhea, nausea, and signs of autonomic failure such as areflexia (loss of reflexes) and weakness. There may also be issues with the bladder, such as a neurogenic bladder and recurrent urinary infections.

This condition is caused by truncation mutations in the prion protein gene, PRNP (located on chromosome 20p13). The mutation leads to the abnormal production of prion protein which then deposits in tissues as amyloid.

Information about treatment is currently limited for this condition.

The condition generally follows a long course, typically lasting around 20 years. Detailed information about long-term outlook and quality of life is limited.

Information about research is currently limited for this condition.