Familial Amyloid Polyneuropathy and Transthyretin Familial Amyloid Polyneuropathy
Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy, is a rare genetic condition that shares symptoms with other neuropathic disorders. Familial amyloid polyneuropathy is a progressive disease caused by the abnormal deposits of proteins or amyloids around the peripheral nervous system. Organ damage can occur over time as a result of Familial amyloid polyneuropathy. Symptoms of familial amyloid polyneuropathy include numbness or a burning sensation in the hands and feet (peripheral neuropathy) and autonomic neuropathy nerves that control blood pressure, temperature control, and digestion, are damaged.
Transthyretin familial amyloid polyneuropathy (TTR-FAP) is caused by mutations in the transthyretin gene and affects an estimated 10,000 people worldwide. Research studies have shown that there are clusters of TTR-FAP patients in Portugal, Japan, and Sweden. TTR-FAP is also prevalent in the United States and some parts of Europe. TTR-FAP is hereditary and affects both men and women. The estimated life expectancy of a patient with transthyretin amyloidosis is approximately 10 years.
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What is Familial Amyloid Polyneuropathy and Transthyretin Amyloidosis?
Familial amyloid polyneuropathy (also known as transthyretin amyloidosis, TTR, and FAP) is an inherited disease that causes progressive sensorimotor and autonomic nerve disorder. Peripheral nerve degeneration (polyneuropathy) begins in small fibers typically in the feet with symptoms of numbness, burning, and tingling. Muscle weakness and motor impairment throughout the body progresses to larger nerve fibers.
Patients with familial amyloid polyneuropathy may also experience unexplained carpal tunnel syndrome and gastrointestinal disturbances. FAP also involves the heart and can be life-threatening. Because of the associated gastrointestinal, wrist, and cardiac involvement patients may visit numerous specialists and the underlying diagnosis is often missed.
What is Transthyretin (TTR) or the TTR Gene?
The TTR gene provides the protein called transthyretin. Transthyretin is known to be associated with the amyloid diseases familial amyloid polyneuropathy and familial amyloid cardiomyopathy. This protein is produced in the liver and transports vitamin A and thyroxine throughout the body. To function correctly, four transthyretin proteins must bind to each other and form a tetramer.
Mutations in the TTR gene change the structure of the transthyretin. They cannot bind to each other and form a tetramer. Transthyretin gathers forming amyloid fibrils that build up in nerve and heart tissues to cause symptoms of the disease.
FAP Symptoms
The symptoms of Familial Amyloid Polyneuropathy include peripheral neuropathy and autonomic neuropathy. Peripheral neuropathy may begin as an abnormal sensation in the legs and feet (numbness, tingling, or burning). Autonomic neuropathy occurs when there is damage to the nerves that manage your blood pressure, heart rate, sweating, bladder emptying, and digestion.
Some people with FAP may never experience any symptoms, but pass the defective gene to their children. The disease usually worsens over the years and often ends with death from heart failure due to TTR protein deposits.
What Causes Familial Amyloid Polyneuropathy?
Familial Amyloid Polyneuropathy is caused by mutations in the TTR gene. It is an inherited defect in the liver’s synthesis of transthyretin (TTR), a protein which normally transports thyroxin hormone and Vitamin A in the bloodstream. There is a genetic glitch in the formation of transthyretin, which misshapes the protein. This creates a toxic residue on peripheral nerves, as well as, the heart and liver. Many patients eventually undergo a heart and liver transplant.
FAP Diagnosis
The neurologic evaluation of FAP includes obtaining a family history, a physical exam to identify carpal tunnel syndrome or other clinical signs of neuropathy, a nerve test, and confirmatory genetic testing to search for mutations in the TTR gene. This is all easily conducted in the doctor’s office.
Familial Amyloid Polyneuropathy Treatment
Treatment may begin with medication specifically targeting the creation of toxic transthyretin. This results in a dramatic decrease in circulating transthyretin, reduction of neuropathic symptoms, and improvement of the quality of life. Neurologist, Dr. Jeffrey Gelblum, has been in practice for over 25 years and possesses a keen interest in the diagnosis and treatment of Familial Amyloid Polyneuropathy.
This potentially life-threatening neurologic disease is now easily diagnosed and effectively treated. Family members can also be genetically screened for this disease.
Dr. Gelblum's offices are located at the Aventura Medical Tower in Aventura, and Mount Sinai Medical Center in Miami Beach, Florida. To make an appointment with Dr. Gelblum, call (305) 936-9393.
Frequently Asked Questions
What is Amyloid Neuropathy?
Amyloid neuropathy is an illness of the nervous system where a protein called amyloid is deposited in tissues and organs. Amyloidosis can affect peripheral sensory, motor or autonomic nerves and deposition of amyloid lead to degeneration and dysfunction in these nerves.
What is Neuropathy?
Neuropathy is any diseased condition of the nervous system.
What is the Nervous System?
The nervous system includes both the central nervous system (CNS) and peripheral nervous system (PNS).
What is the Central Nervous System?
The central nervous system is made up of the brain and spinal cord. It is protected by the vertebrae and the skull.
What is the Peripheral Nervous System?
The peripheral nervous system encompasses nerves outside the brain and spinal cord and is made up of the somatic and the autonomic nervous systems (ganglion). These nerves control the functions of sensation, movement, and motor coordination.
What is Ganglion?
A ganglion is a group of nerve cell bodies located in the autonomic nervous system and sensory (somatic) system.
What is Polyneuropathy?
Polyneuropathy is a disorder of the peripheral nerves.
What is Amyloid?
Amyloids are a group of abnormal proteins that form fibrils. Pathogenic amyloids form when healthy proteins lose their normal functions and form fibrous deposits in plaques around cells which can disrupt the healthy function of tissues and organs.
What is Amyloidosis?
Amyloidosis is when amyloids build-up in your tissues and organs. Amyloidosis is a serious health problem that can lead to life-threatening organ failure.
Familial Amyloid Polyneuropathy Specialist Testimonial
After seeing numerous doctors, Dr. Gelblum diagnosed and started treatment for my Familial Amyloid Polyneuropathy. I went to several doctors and no one was able to figure out what was wrong with me! I have been diagnosed with so many different health problems over the years. Dr. Gelblum is personable, kind, and very knowledgeable. He even has a little service dog, Scooter, to make the experience even more pleasant.
Lucy R. - Miami, FL
Contact a Familial Amyloid Polyneuropathy Doctor in Florida
Dr. Jeffrey Gelblum is a Familial Amyloid Polyneuropathy Specialist. He has been in practice for over 25 years. He possesses a keen interest in the diagnosis and treatment of Familial Amyloid Polyneuropathy. Dr. Gelblum has offices at the Aventura Medical Tower in Aventura, and Mount Sinai Medical Center in Miami Beach, Florida. He looks forward to providing you a pathway of care for this severe illness.
To make an appointment with Dr. Gelblum, call (305) 936-9393 or fill out the form below.