Former Pak President Pervez Musharraf Suffers From Amyloidosis; Know Amyloidosis Causes And Symptoms

What Is Amyloidosis?

Amyloidosis is a rare condition which occurs when an abnormal protein, called amyloid, accumulates in your organs and interferes with their normal functions.

It is not normally found in the body, but it can be produced from various proteins. Therefore, the heart, kidneys, liver, spleen, nervous system, and digestive tract may be affected by this disease [2].

What Are The Symptoms Of Amyloidosis?

Symptoms of amyloidosis may not become evident until the condition has progressed. Symptoms are dependent on which of your organs is affected when they become evident.

Amyloidosis symptoms may include the following [3]:

• Leg and ankle swelling
• Severe fatigue and weakness
• An irregular heartbeat
• Difficulty swallowing
• Constipation or diarrhoea, possibly bloody
• Shortness of breath despite minimal activity
• Inability to lie flat in bed due to shortness of breath
• Numbness, tingling or pain in your hands or feet, especially pain in your wrist (carpal tunnel syndrome)
• Unintentional weight loss of more than 10 pounds (4.5 kilograms)
• Protruding tongue, which sometimes appears rippled around its edges
• Skin changes, including thickening or easy bruising and purplish patches around the eyes

What Causes Amyloidosis?

There are numerous types of amyloidosis. Various forms of kidney disease can be hereditary or caused by outside factors, such as inflammatory diseases or long-term dialysis. Many types affect multiple organs, while others only affect one organ [4].

What Are The Types Of Amyloidosis?

Amyloidosis subtypes include the following [5]:

• AL amyloidosis (immunoglobulin light chain amyloidosis): AL amyloidosis is the most prevalent form in developed countries and is also known as primary amyloidosis. The heart, kidneys, liver, and nerves are affected in most cases.
• AA amyloidosis: Known as secondary amyloidosis, this condition is often caused by an inflammatory disease, such as rheumatoid arthritis. In developed nations, improved treatments for severe inflammatory conditions have led to a significant decline in the incidence of AA amyloidosis. The kidneys, liver, and spleen are most commonly affected.
• Hereditary amyloidosis (familial amyloidosis): An inherited disorder that affects the nervous system, heart, and kidneys. An abnormal liver protein generally causes it. This protein is called transthyretin (TTR).
• Wild-type amyloidosis: There is a type of amyloidosis in which the liver normally produces TTR protein, but for unknown reasons, it produces amyloid. The wild-type amyloidosis, formerly known as senile systemic amyloidosis, usually affects men over age 70 and tends to affect the heart. It can also result in carpal tunnel syndrome.
• Localised amyloidosis: Unlike amyloidosis, which affects multiple organ systems, this type often has a better prognosis. Localised amyloidosis usually affects the bladder, the skin, the throat, or the lungs. A correct diagnosis is necessary to prevent treatments that adversely affect the entire body.

What Are The Risk factors For Amyloidosis?

The following factors increase your risk of amyloidosis [6]:

• Age: Most people diagnosed with amyloidosis are between the ages of 60 and 70, although earlier onset is also possible.
• Sex: Amyloidosis occurs more commonly in men.
• Family history: Certain types of amyloidosis are inherited.
• Race: A genetic mutation associated with a type of amyloidosis that may harm the heart is more likely to be carried by people of African descent.
• Kidney dialysis: Dialysis cannot always remove large proteins from the blood. In dialysis patients, abnormal proteins can accumulate in the blood and eventually deposit in the tissues. The incidence of this condition is decreasing as dialysis techniques become more sophisticated.
• Other diseases: Your risk of AA amyloidosis increases if you have a chronic infectious or inflammatory disease.

What Are The Complications Of Amyloidosis?

Amyloidosis can cause complications depending on which organs are affected by amyloid deposits [7]:

• Heart: Amyloid interferes with your heart's ability to fill with blood between heartbeats. With each beat, less blood is pumped, which may cause shortness of breath. Amyloidosis may affect your heart's electrical system, causing your heart rhythm to become irregular. Amyloid-related problems with the heart can be life-threatening.
• Kidneys: The amyloid in your blood can damage the kidneys' filtering system, causing the protein to leak into your urine. As a result, the kidneys become less efficient at removing waste products from your body, which may eventually result in kidney failure and the need for dialysis.
• Nervous system: In addition to pain, numbness, or tingling of the fingers, you may also feel numbness, lack of feeling, or a burning sensation in your toes or the soles of your feet. You may experience periods of alternating constipation and diarrhoea if amyloid impairs the nerves that regulate bowel function. When it affects the nerves that control blood pressure, you may feel faint after standing up too quickly.

How Is Amyloidosis Diagnosed?

The symptoms and signs of amyloidosis are often mistaken for those of other diseases [8].

An early diagnosis can prevent further organ damage. In addition, a precise diagnosis is essential since the type of treatment you receive depends on your specific condition.

• Blood and urine tests
• Biopsy
• Imaging tests such as an echocardiogram, MRI and nuclear imaging

How Is Amyloidosis Treated?

Amyloidosis does not have a cure. But treatment can reduce signs and symptoms and limit the production of amyloid protein in the body. In addition, treating the underlying condition may be beneficial if another disorder triggers amyloidosis, such as rheumatoid arthritis or tuberculosis [9].

• Chemotherapy medications
• Heart medications
• Targeted therapies

Surgical and other procedures such as the following [10]:

• Autologous blood stem cell transplant
• Dialysis
• Organ transplant

On A Final Note...

Amyloidosis can be fatal, especially if it affects your heart or kidneys. The earlier it is diagnosed and treated, the better your chance of surviving. Consult your physician if you persistently experience any of the symptoms associated with amyloidosis.