ATTRV30M amyloidosis

ATTRV30M amyloidosis is a rare, inherited condition where a protein called transthyretin builds up in the body. This buildup can cause damage to nerves and may also affect the kidneys, eyes, and heart. There are two main forms of this condition. In the early-onset form (appearing before age 50), symptoms may develop differently compared to the late-onset form (coming on after age 50). The differences include the age when symptoms start, the specific signs people experience, and how fast the condition progresses.

People with ATTRV30M amyloidosis often experience a gradual loss of feeling in their hands and feet, and they might have muscle weakness. They can also have problems with automatic body functions, such as blood pressure regulation and digestion. In addition, issues with the kidneys, eyes, and heart are frequently seen.

ATTRV30M amyloidosis is caused by a hereditary mutation in the transthyretin gene. This mutation leads to the production of an abnormal protein that forms deposits in various tissues. There are two types of this condition, which differ based on the age at onset and some clinical features.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.