Familial Amyloid Polyneuropathy: Symptoms, Causes, Diagnosis & Treatment

Written by Medicover Team and Medically Reviewed by Dr Krishna Haskar Dhanyamraju , Neurologists

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1. Causes 2. Find a Doctor 3. Diagnosis 4. Treatment 5. FAQs

Familial amyloid polyneuropathy (FAP) is a rare inherited disorder caused by abnormal deposits of transthyretin (TTR) amyloid protein in the peripheral nerves and other organs. It leads to progressive numbness, tingling, muscle weakness, pain, autonomic dysfunction, and may also affect the heart and kidneys. Early diagnosis and timely treatment can help slow disease progression, preserve nerve function, and improve quality of life.

What are the Types of Familial Amyloid Polyneuropathy?

Familial Amyloid Polyneuropathy is classified according to the pattern of organ involvement and the underlying genetic mutation.

Early-Onset ATTRv Amyloidosis: Typically begins before the age of 50 with prominent peripheral neuropathy and autonomic dysfunction.
Late-Onset ATTRv Amyloidosis: Usually develops after the age of 50 and often includes both nerve and heart involvement.
Neuropathic-Predominant ATTRv Amyloidosis: Primarily affects the peripheral and autonomic nerves.
Cardiac-Predominant ATTRv Amyloidosis: Mainly affects the heart, causing cardiomyopathy and heart rhythm abnormalities.
Mixed ATTRv Amyloidosis: Involves both neurological and cardiac manifestations.

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 sensation in the extremities
Muscle weakness
Loss of sensation in the hands and feet
Diarrhea or constipation
Weight loss
Difficulty swallowing
Fatigue
Shortness of breath

What are the Causes 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

When to See a Doctor for Familial Amyloid Polyneuropathy?

Persistent numbness, tingling, muscle weakness, dizziness, or unexplained heart symptoms, especially with a family history of amyloidosis, should be evaluated by a neurologist. Early diagnosis and treatment can slow disease progression and reduce organ damage.

You should see a doctor if you have:

Progressive numbness or weakness in the arms or legs.
Persistent dizziness, fainting, or digestive problems.
A family history of hereditary amyloidosis.
Unexplained weight loss or symptoms of heart disease.

Get medical help immediately if:

Severe chest pain or difficulty breathing.
Sudden loss of consciousness.
Rapidly worsening muscle weakness or inability to walk.

These could be signs of a serious complication like Familial Amyloid Polyneuropathy, which needs urgent care.

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How Is Familial Amyloid Polyneuropathy Diagnosed?

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

What are the 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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What are the Risk Factors of Familial Amyloid Polyneuropathy?

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

What Is the Recovery Process for Familial Amyloid Polyneuropathy?

This condition is progressive, but early diagnosis and treatment can help manage symptoms and improve daily functioning.

Disease progression varies among individuals
Treatment can slow symptom worsening
Regular monitoring helps adjust care plans
Supportive therapies improve mobility and independence
Long-term care focuses on quality of life

Frequently Asked Questions

1. 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.

2. 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.

3. 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.

4. 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.

5. 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.