Familial Amyloidosis: Signs, Causes, And How To Treat

Familial amyloidosis is a rare genetic disorder that causes abnormal protein buildup in organs and tissues. This buildup can lead to various health issues and complications. The condition is inherited, meaning it is passed down from parents to children through genes. Understanding the genetic component of familial amyloidosis is crucial for proper management and support. If you have a family history of this condition, genetic counseling can help assess your risk and provide guidance. By learning more about familial amyloidosis and its genetic roots, individuals can make informed decisions about their health and well-being.

What Are the Symptoms of Familial Amyloidosis

Familial amyloidosis can cause symptoms like fatigue, weakness, numbness, and swelling in the legs. Patients may also experience heart problems, such as an irregular heartbeat or shortness of breath. Kidney issues and gastrointestinal troubles like diarrhea or constipation can occur. Seek medical attention if you notice any of these symptoms.

Familial amyloidosis may cause numbness and tingling in your hands and feet, making it hard to feel sensations properly.
You might experience shortness of breath and fatigue due to familial amyloidosis affecting your heart and lungs.
Swelling in your abdomen, ankles, or legs can occur as a result of fluid buildup caused by familial amyloidosis.
Digestive issues like diarrhea, constipation, or unintentional weight loss may be signs of familial amyloidosis affecting your gastrointestinal system.

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Causes of Familial Amyloidosis

These proteins can accumulate and form amyloid deposits in various tissues and organs, affecting their function over time. Common genetic mutations linked to familial amyloidosis include those affecting the transthyretin gene. Early diagnosis and management are crucial in preventing disease progression and complications.

Genetic mutations in the transthyretin (TTR) gene can lead to Familial amyloidosis, causing abnormal protein buildup in organs and tissues.
Inheritance of the mutated TTR gene from one or both parents can increase the risk of developing Familial amyloidosis.
Certain variations in the TTR gene can predispose individuals to the condition, with symptoms typically manifesting later in life.
Familial amyloidosis may be linked to a family history of the disease, indicating a hereditary pattern of transmission.

Types of Familial Amyloidosis

There are three main types of Familial amyloidosis: Familial amyloid polyneuropathy (FAP), Familial amyloid cardiomyopathy (FAC), and Dialysis-related amyloidosis (DRA). FAP affects the peripheral nerves, leading to numbness and weakness. FAC impacts the heart, causing symptoms like shortness of breath and fatigue. DRA occurs in individuals with kidney disease undergoing dialysis. Each type has unique symptoms and complications.

Transthyretin amyloidosis, also known as ATTR amyloidosis, is a type of familial amyloidosis that affects the nervous system and heart.
Apolipoprotein A1 amyloidosis, also called AApoA1 amyloidosis, is a rare form of familial amyloidosis that primarily affects the kidneys and liver.
Gelsolin amyloidosis, or AGel amyloidosis, is a genetic disorder that leads to the accumulation of abnormal protein deposits in various tissues, causing symptoms such as neuropathy and eye problems.

Risk Factors

Familial amyloidosis risk factors include genetics, with certain gene mutations increasing susceptibility. Age is a significant risk factor, as symptoms often appear later in life. Gender may play a role, with men being more commonly affected. Other health conditions, such as heart disease and kidney problems, can also contribute to the risk of developing familial amyloidosis.

Having a family history of familial amyloidosis increases the risk of developing the condition, as it is an inherited disorder passed down through generations.
Aging is a significant risk factor for familial amyloidosis, as the likelihood of abnormal protein accumulation in tissues increases with age.
Certain genetic mutations, such as those affecting the production of specific proteins like transthyretin, can predispose individuals to familial amyloidosis.
Chronic inflammatory conditions, such as rheumatoid arthritis or inflammatory bowel disease, may elevate the risk of developing amyloid deposits in tissues.

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Diagnosis of Familial Amyloidosis

Additionally, doctors may perform a biopsy to analyze abnormal protein deposits in tissues. Symptoms like heart issues, kidney problems, or nerve damage can also aid in diagnosis. Early detection is crucial for effectively managing Familial amyloidosis and preventing complications.

Genetic testing: Familial amyloidosis can be diagnosed through genetic testing to identify specific gene mutations associated with the condition.
Biopsy: A tissue biopsy, often of the affected organ such as the heart or kidneys, can reveal the presence of amyloid deposits characteristic of familial amyloidosis.
Imaging studies: Imaging techniques like echocardiography, MRI, or CT scans can help detect organ damage and abnormalities caused by amyloid deposits in familial amyloidosis.
Blood tests: Blood tests can measure levels of specific proteins, such as serum amyloid A (SAA) or transthyretin (TTR), which are known to be elevated in individuals with familial amyloidosis.

Treatment for Familial Amyloidosis

Treatment for Familial amyloidosis focuses on managing symptoms and slowing disease progression. Options may include medications to reduce amyloid production, organ-specific treatments to address complications, and supportive therapies to improve quality of life. In some cases, organ transplant may be considered. It's important to work closely with healthcare providers to develop a personalized treatment plan tailored to individual needs.

Medications such as tafamidis and patisiran may be prescribed to stabilize or reduce the production of abnormal amyloid proteins in patients with Familial amyloidosis, helping to slow disease progression.
Liver transplantation can be considered as a treatment option for Familial amyloidosis caused by mutations in the transthyretin gene, as it can replace the liver cells responsible for producing the faulty protein.
Supportive therapies, including pain management medications, nutritional support, and physical therapy, can help improve quality of life for individuals with Familial amyloidosis by managing symptoms and complications.

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Frequently Asked Questions

Are there specific signs that indicate Familial amyloidosis?

Signs of familial amyloidosis may include numbness/tingling in hands/feet, heart problems, kidney issues, GI symptoms, and unexplained weight loss.

Are there specific things I should or shouldn't do when dealing with Familial amyloidosis?

Avoid triggers like stress, alcohol, and certain medications. Follow treatment plan, manage symptoms, and seek genetic counseling for family planning.

How can Familial amyloidosis affect the body in the long term?

Familial amyloidosis can lead to organ damage over time, affecting the heart, kidneys, nervous system, and other organs due to the accumulation of abnormal proteins.

What treatment options are available for Familial amyloidosis?

Treatment options for Familial amyloidosis include medications to manage symptoms, organ-specific therapies, liver transplantation, and gene-silencing drugs.