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About ATTRV122I amyloidosis

What is ATTRV122I amyloidosis?

ATTRV122I amyloidosis is a rare, inherited form of amyloidosis caused by a mutation in the transthyretin (TTR) gene. It is characterized by the buildup of abnormal proteins in the body's organs and tissues, leading to organ damage and other serious health problems.

What are the symptoms of ATTRV122I amyloidosis?

The most common symptoms of ATTRV122I amyloidosis include:

• Fatigue

• Shortness of breath

• Swelling in the legs and abdomen

• Weight loss

Numbness and Tingling in the hands and feet

• Heart palpitations

• Abnormal heart rhythms

• Difficulty swallowing

• Difficulty speaking

• Vision problems

• Cognitive decline

• Muscle weakness

• Joint pain

• Skin changes, such as thickening and darkening of the skin

What are the causes of ATTRV122I amyloidosis?

ATTRV122I amyloidosis is caused by a mutation in the transthyretin (TTR) gene. This mutation causes the TTR protein to misfold and form amyloid deposits in the body. These deposits can affect the heart, peripheral nerves, gastrointestinal tract, and other organs. Other causes of ATTRV122I amyloidosis include age, family history, and certain medications.

What are the treatments for ATTRV122I amyloidosis?

1. Liver transplantation: Liver transplantation is the only curative treatment for ATTRV122I amyloidosis. It involves replacing the diseased liver with a healthy one from a donor.

2. Medications: Medications such as tafamidis, diflunisal, and doxycycline can be used to slow the progression of the disease and reduce symptoms.

3. Symptomatic treatments: Symptomatic treatments such as diuretics, ACE inhibitors, and beta-blockers can be used to manage symptoms such as heart failure, peripheral neuropathy, and autonomic neuropathy.

4. Diet and lifestyle changes: Eating a healthy diet and exercising regularly can help reduce symptoms and slow the progression of the disease.

What are the risk factors for ATTRV122I amyloidosis?

1. Age: ATTRV122I amyloidosis is most commonly seen in people over the age of 65.

2. Gender: ATTRV122I amyloidosis is more common in men than in women.

3. Family history: Having a family history of ATTRV122I amyloidosis increases the risk of developing the condition.

4. Ethnicity: ATTRV122I amyloidosis is more common in people of African descent.

5. Certain medical conditions: Having certain medical conditions, such as diabetes, hypertension, and kidney disease, can increase the risk of developing ATTRV122I amyloidosis.

Is there a cure/medications for ATTRV122I amyloidosis?

At this time, there is no cure for ATTRV122I amyloidosis. However, there are medications available to help manage the symptoms of the condition. These include medications to reduce fluid buildup, medications to reduce heart rate, and medications to reduce inflammation. Additionally, lifestyle changes such as a low-salt diet, regular exercise, and stress management can help to improve symptoms.