Hereditary Transthyretin Amyloidosis
What is Hereditary Transthyretin Amyloidosis?
Hereditary transthyretin amyloidosis (TTR-FAP) is a rare form of progressive amyloidosis, a group of diseases characterized by the build-up of abnormal proteins within organs and tissues throughout the body. This build-up occurs when a faulty version of the transthyretin (TTR) protein, which is normally found in the bloodstream, clumps together and forms deposits in various parts of the body. This build-up can lead to damage of organs and tissues, and, if left untreated, can cause life-threatening complications. It is estimated that approximately two percent of the population worldwide is impacted by hereditary transthyrtin amyloidosis.
Symptoms of Hereditary Transthyretin Amyloidosis
The symptoms of hereditary transthyretin amyloidosis vary depending on which organs and tissues are affected. Common symptoms include:
- Frequent falling
- Muscle weakness
- Numbness or tingling sensations in the hands or feet
- Fatigue
- Peripheral neuropathy
- Carpal tunnel syndrome
- Ringing in the ears
- Heart failure
- Abdominal pain
- Liver damage
- Esophageal dysfunction
- Kidney failure
- Changes in personality or mental status
Diagnosis and Treatment
Due to the rarity of hereditary transthyretin amyloidosis, diagnosis may be difficult and can include genetic testing, physical examination, and imaging tests. If hereditary transthyretin amyloidosis is suspected, doctors may recommend a biopsy to confirm the diagnosis.
Treatment for hereditary transthyretin amyloidosis may include medication, diet changes, exercise, physical therapy, and/or surgery. However, medications and treatments may only alleviate symptoms and are not cures for the disease. Some people may benefit from a liver transplant.
Living with Hereditary Transthyretin Amyloidosis
Living with hereditary transthyretin amyloidosis is a challenge and requires lifestyle changes and careful monitoring by healthcare professionals. Lifestyle changes may include eating a healthy diet, exercising regularly, quitting smoking, and avoiding alcohol. It is also important to get regular check-ups and monitored treatments, so any issues can be caught and addressed early. With careful management, people with hereditary transthyretin amyloidosis can lead long, full lives.
