Familial amyloidosis is an inherited condition that can affect multiple organs throughout the body and sometimes lead to organ failure. It is caused by an abnormal protein called amyloid.
- Over 100 different mutations of the amyloid protein are associated with this condition. It’s passed down from one or both parents to their child.
- Although these protein mutations are present at birth, symptoms often do not appear until much later.
- Familial amyloidosis can damage the heart, kidneys, nervous system, and other organs. One of the only treatments for this condition is a liver transplantation.
Familial amyloidosis is an inherited genetic condition, which means that it is passed down from one or both parents to their children. This is the only way to contract this condition. It causes an abnormal protein called amyloid to build up throughout the body, which can lead to complications in the heart, kidneys, nervous system, and other organs.
There are over 100 possible mutations that can cause familial amyloidosis. Depending on the type of mutation, its symptoms, severity, and characteristics will vary.
While the genetic mutations of familial amyloidosis are present at birth, symptoms do not usually appear until amyloid deposits have become large enough to cause complications. This does not occur until adulthood.
The following are some of the most common symptoms of familial amyloidosis:
- Carpal tunnel syndrome
- Diarrhea or constipation
- Dizziness when standing (orthostatic hypotension)
- Enlarged heart (cardiomyopathy)
- Enlarged tongue
- Irregular heartbeat
- Numbness, tingling, or pain in hands and feet (neuropathy)
- Protein in the urine
- Purplish patches around the eyes
- Severe fatigue
- Shortness of breath
- Skin changes such as easy bruising or thickening
- Swelling of the legs and ankles
- Weight loss
As an inherited condition, diagnosing familial amyloidosis begins with identifying a family history of the disease. If there is no family history, then doctors may conduct a physical examination to test for symptoms such as neuropathy (numbness in hands and feet).
The following are some other common ways of diagnosing familial amyloidosis:
- Blood and Urine Tests: These help confirm a diagnosis and identify which organs have been affected, as well as the severity of their damage.
- Genetic Test: This can help identify the specific type of familial amyloidosis present.
- Tissue Biopsy: This is a surgical procedure that removes a tiny portion of tissue so that doctors can examine it under a microscope. Doing this can help them identify amyloid deposits and confirm a diagnosis.
The only treatment that can potentially cure familial amyloidosis is a liver transplantation. This is because the amyloid protein that causes this condition is produced in the liver. By removing the liver and replacing it with a healthy donor liver, it’s possible to remove as much as 95 percent of the mutated amyloid protein. Read more about liver transplantations.
Other available treatments can help ease symptoms and stop organ damage. These include:
- Cardiac and Blood Pressure Medications: These can help reduce problems such as high blood pressure or elevated heart rate.
- Dietary Changes: A low-salt diet can help ease cardiac problems, reduce fluid retention, and stop nausea, vomiting, and other digestive symptoms.
- Pain Medications: These can help reduce the burning and tingling sensations that are associated with neuropathy.
Familial amyloidosis affects everyone differently depending on the type of amyloid mutation. For some, the symptoms may be few and/or minor. For others with a different type of mutation, the condition could be life-threatening. Regardless, the best way to ensure successful treatment is to make an early diagnosis, before amyloid builds up to dangerous levels.
Columbia doctors and medical staff can help diagnose and manage the symptoms of every type of familial amyloidosis. Our center is also a nationwide leader in liver transplantations.
Call us at (877) LIVER MD/ (877) 548-3763 or use our online form to schedule an appointment.