Hereditary transthyretin-mediated amyloidosis

Hereditary Transthyretin-Mediated Amyloidosis

Hereditary transthyretin-mediated amyloidosis (ATTR) is a rare, progressive, and fatal disorder caused by mutations in the transthyretin gene. It is estimated that approximately 50,000 people worldwide are affected by this condition, which affects both men and women equally. ATTR is characterized by the accumulation of the abnormal protein transthyretin in various tissues of the body, primarily in the nerves, heart, and kidneys.

ATTR’s most common symptom is peripheral neuropathy, which is a condition in which the nerves in the legs and arms are damaged. This can cause pain, numbness, burning, or tingling sensations. Other symptoms of ATTR include cardiomyopathy, where the heart muscle is weakened and can’t pump enough blood; carpal tunnel syndrome, which is a painful condition that affects the nerves and tendons in the hands and can cause numbness, tingling, and weakness in the hands; and renal failure, which is kidney failure that can lead to dehydration, high blood pressure, and difficulty with urination.

ATTR is normally inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the defective gene from one of their parents in order to develop the disease. There are currently two forms of ATTR that are recognized: hereditary transthyretin amyloidosis (hATTR), which is caused by mutations in the transthyretin gene, and sporadic transthyretin amyloidosis (sATTR), which is due to a spontaneous mutation in the transthyretin gene.

Currently, there is no cure for ATTR, but treatments are available to help manage the symptoms and slow the progression of the disease. These treatments include medications to reduce nerve pain, medications to lower cholesterol, medications to help with cardiac symptoms, physical therapy for limb weakness, and kidney dialysis for renal failure. Surgery may also be an option to reduce symptoms or to repair damaged tissue.

Risk Factors for ATTR

The main risk factor for ATTR is having a family history of the disorder. It is important to talk to your doctor if you suspect that a family member has the condition so that you can get genetic testing for yourself and other family members. Other risk factors for ATTR include advancing age, being of African or Caribbean descent, having a mutation in the transthyretin gene, and having an underlying medical condition, such as diabetes or high blood pressure.

Prevention & Outlook

Currently, there is no known way to prevent ATTR. The outlook for someone with ATTR depends on a variety of factors, such as the type and severity of the condition, the presence of other medical conditions, and how quickly the disease is progressing. In general, the earlier the diagnosis is made, the better the outlook will be.

Overall, ATTR is a serious condition that can have devastating effects. However, with the right treatment plan and support, people living with ATTR can still lead fulfilling lives. It is important to talk to your doctor if you think you or a loved one might be at risk for the disorder so they can arrange for appropriate tests and treatments.