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Familial Amyloid Polyneuropathy: Symptoms and Care
Familial amyloid polyneuropathy is a rare genetic disorder that affects the nervous system and various organs in the body. It is caused by the buildup of abnormal proteins called amyloids, which can lead to progressive damage and dysfunction. The primary impact of this disease is the impairment of nerve function, resulting in a range of symptoms that can affect mobility, sensation, and overall quality of life. Over time, familial amyloid polyneuropathy can significantly impact an individual's health and well-being, requiring ongoing management and support.
What are the Symptoms of Familial Amyloid Polyneuropathy?
Familial amyloid polyneuropathy typically involves a range of symptoms that affect the nervous system and other organs.
- Numbness and tingling in the extremities
- Muscle weakness
- Loss of sensation in the hands and feet
- Diarrhea or constipation
- Weight loss
- Difficulty swallowing
- Fatigue
- Shortness of breath
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Get Second OpinionCauses of Familial Amyloid Polyneuropathy
Familial amyloid polyneuropathy is primarily caused by genetic mutations that lead to the production of abnormal proteins that accumulate in tissues throughout the body.
- Genetic mutations in the transthyretin gene
- Inherited condition from one or both parents
- Abnormal protein buildup in nerves and organs
- Leads to nerve damage and dysfunction
- Commonly affects peripheral nerves and organs
Types of Familial Amyloid Polyneuropathy
Familial amyloid polyneuropathy can manifest in various ways, affecting different parts of the body and leading to a range of symptoms.
- Hereditary transthyretin amyloidosis (ATTR): A genetic disorder causing abnormal protein deposits in tissues, leading to nerve damage.
- Apolipoprotein A1 amyloidosis (AApoA1): Characterized by amyloid deposits primarily affecting the kidneys and causing renal dysfunction.
- Gelsolin amyloidosis: Rare inherited condition causing amyloid protein deposits that affect multiple organs, including the nerves and skin.
- Fibrinogen Aαchain amyloidosis: Results from mutations in the fibrinogen gene, leading to amyloid deposits that primarily impact the kidneys and liver.
- Lysozyme amyloidosis: Inherited disorder due to mutations in the lysozyme gene, leading to amyloid accumulation in various tissues, including the liver and kidneys.
Risk Factors
Familial amyloid polyneuropathy risk factors include a family history of the condition, specific genetic mutations, and advancing age.
- Genetic mutation in the TTR gene
- Family history of familial amyloid polyneuropathy
- Age of onset typically between 3050 years old
- Inheritance pattern is usually autosomal dominant
- Variability in symptoms and severity among affected individuals
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Diagnosis of Familial Amyloid Polyneuropathy
Familial amyloid polyneuropathy is typically diagnosed through a combination of medical history, physical examination, and specific tests.
- Genetic testing
- Nerve conduction studies
- Biopsy of affected tissue
- Blood tests for amyloid proteins
- Imaging studies such as MRI or CT scans
Treatment for Familial Amyloid Polyneuropathy
Familial amyloid polyneuropathy is managed through a combination of treatments aimed at reducing symptoms and slowing disease progression.
- Liver Transplantation: Liver transplantation is a common treatment for Familial amyloid polyneuropathy as it replaces the faulty transthyretin gene with a healthy one to prevent further amyloid buildup.
- Tafamidis (Vyndaqel): Tafamidis is a medication that stabilizes the transthyretin protein, slowing down the progression of the disease in some patients with Familial amyloid polyneuropathy.
- Diflunisal: Diflunisal is a nonsteroidal antiinflammatory drug that may help manage symptoms of Familial amyloid polyneuropathy by reducing pain and inflammation.
- Supportive Care: Supportive care, including physical therapy, occupational therapy, and assistive devices, can help improve quality of life and manage symptoms in individuals with Familial amyloid polyneuropathy.
- Clinical Trials: Participation in clinical trials can provide access to new treatment options and help advance research efforts aimed at finding more effective therapies for Familial amyloid polyneuropathy.
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040-68334455Frequently Asked Questions
What is Familial amyloid polyneuropathy (FAP)?
Familial amyloid polyneuropathy (FAP) is a rare genetic disorder that causes the buildup of abnormal protein deposits in tissues and organs, leading to nerve damage.
What are the common symptoms of Familial amyloid polyneuropathy?
Common symptoms of FAP include numbness, tingling, weakness in the limbs, digestive issues, weight loss, and heart problems.
How is Familial amyloid polyneuropathy diagnosed?
Diagnosis of FAP involves genetic testing to identify mutations in specific genes associated with the condition, as well as imaging tests and tissue biopsies.
Is there a cure for Familial amyloid polyneuropathy?
Currently, there is no cure for FAP. Treatment focuses on managing symptoms, slowing disease progression, and improving quality of life.
What is the prognosis for individuals with Familial amyloid polyneuropathy?
The prognosis for FAP varies depending on the individual and disease progression. Early diagnosis and treatment can help improve outcomes and quality of life.
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