hATTR With What to Expect

hATTR, or hereditary ATTR amyloidosis, is a rare genetic condition that can cause a buildup of abnormal proteins in the body, leading to damage to various organs and tissues. Here's what you can expect with hATTR:

1. Symptoms:

- Early symptoms may include fatigue, weakness, numbness, tingling, and lightheadedness.

- As the condition progresses, it can affect the heart, nervous system, kidneys, eyes, digestive system, and other organs, leading to specific symptoms related to each organ.

2. Diagnosis:

- Doctors may suspect hATTR based on symptoms and family history.

- Genetic testing confirms the diagnosis by identifying specific mutations in the TTR gene associated with hATTR.

3. Prognosis:

- The course of hATTR can vary among individuals. Early diagnosis and proper management can help slow the progression of the disease and improve outcomes.

4. Treatment:

- Available treatments aim to stabilize the TTR protein, prevent amyloid deposits, and manage symptoms:

- Medications: Tafamidis and diflunisal are drugs approved to treat hATTR amyloidosis, helping to stabilize the TTR protein.

- Liver transplant: This procedure can replace the primary source of TTR production in individuals with advanced hATTR, potentially halting the progression of the disease. Gene therapy and other advanced therapies are also being investigated for the treatment of hATTR.

5. Monitoring:

- Regular monitoring is essential to track the progression of the disease and assess organ function. This may include tests like echocardiograms, nerve conduction studies, blood tests, urine tests, and more.

6. Genetic Counseling:

- hATTR is an inherited condition, and genetic counseling can provide information about the genetic aspects of the disease and help families make informed decisions about testing and prevention.

7. Support:

- Support groups and organizations can provide valuable resources, information, and connections with others affected by hATTR.

It's important to note that everyone's experience with hATTR can be different, and the individual course of the disease may vary. Working closely with a healthcare team experienced in managing hATTR can help optimize care and management strategies.