The horrific world of Amyloidosis

 

 

Overview

Amyloidosis is a rare disease that occurs when an abnormal protein, called amyloid, builds up in your organs and interferes with their normal function.

 

Amyloid is not normally found in the body, but it can be formed from several different types of protein. Organs that may be affected include the heart, kidneys, liver, spleen, nervous system, and digestive tract.

 

Some varieties of amyloidosis occur in association with other diseases. These types may improve with treatment of the underlying disease. Some varieties of amyloidosis may lead to life-threatening organ failure.

 

 

 

Treatments may include chemotherapy similar to that used to combat cancer. Your doctor may suggest medications to reduce amyloid production and to control symptoms. Some people may benefit from organ or stem cell transplants.

Symptoms

Purpura around the eyes, a sign of amyloidosis

 Signs and symptoms of amyloidosis may include:

Swelling of your ankles and legs

Severe fatigue and weakness

Shortness of breath with minimal exertion

Unable 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)

Diarrhea, possibly with blood, or constipation

Unintentional weight loss of more than ten pounds (4.5 kilograms)

An enlarged tongue, which sometimes looks rippled around its edge

Skin changes, such as thickening or easy bruising, and purplish patches around the eyes

An irregular heartbeat

Difficulty swallowing

When to see a doctor

See your doctor if you persistently experience any of the signs or symptoms associated with amyloidosis.

You may not experience signs and symptoms of amyloidosis until the condition is advanced. When signs and symptoms are evident, they depend on which of your organs are affected.

Causes

There are many different types of amyloidosis. Some varieties are hereditary. Others are caused by outside factors, such as inflammatory diseases or long-term dialysis. Many types affect multiple organs, while others affect only one part of the body.

 

Subtypes of amyloidosis include:

 

AL amyloidosis (immunoglobulin light chain amyloidosis). The most common type of amyloidosis in developed countries, AL amyloidosis is also called primary amyloidosis. It usually affects the heart, kidneys, liver, and nerves.

AA amyloidosis. Also known as secondary amyloidosis, this variety is usually triggered by an inflammatory disease, such as rheumatoid arthritis. Improved treatments for severe inflammatory conditions have resulted in a sharp decline in the number of cases of AA amyloidosis in developed countries. It most commonly affects the kidneys, liver, and spleen.

Hereditary amyloidosis (familial amyloidosis). This inherited disorder often affects the nerves, heart, and kidneys. It most commonly happens when a protein made by your liver is abnormal. This protein is called transthyretin (TTR).

Wild-type amyloidosis. This variety of amyloidosis occurs when the TTR protein made by the liver is normal but produces amyloid for unknown reasons. Formerly known as senile systemic amyloidosis, wild-type amyloidosis tends to affect men over age 70 and typically targets the heart. It can also cause carpal tunnel syndrome.

Localized amyloidosis. This type of amyloidosis often has a better prognosis than the varieties that affect multiple organ systems. Typical sites for localized amyloidosis include the bladder, skin, throat, or lungs. Correct diagnosis is important so that treatments that affect the entire body can be avoided.

Risk factors

Factors that increase your risk of amyloidosis include:

Age. Most people diagnosed with amyloidosis are between ages 60 and 70, although earlier onset occurs.

Sex. Amyloidosis occurs more commonly in men.

Other diseases. Having a chronic infectious or inflammatory disease increases your risk of AA amyloidosis.

Family history. Some types of amyloidosis are hereditary.

Kidney dialysis. Dialysis cannot always remove large proteins from the blood. If you are on dialysis, abnormal proteins can build up in your blood and eventually be deposited in tissue. This condition is less common with more modern dialysis techniques.

Race. People of African descent appear to be at higher risk of carrying a genetic mutation associated with a type of amyloidosis that can harm the heart.

Complications

The potential complications of amyloidosis depend on which organs the amyloid deposits affect. Amyloidosis can seriously damage your:

Heart. Amyloid reduces your heart's ability to fill with blood between heartbeats. Less blood is pumped with each beat, and you may experience shortness of breath. If amyloidosis affects your heart's electrical system, your heart rhythm may be disturbed. Amyloid-related heart problems can become life-threatening.

Kidneys. Amyloid can harm the kidneys' filtering system, causing protein to leak from your blood into your urine. The kidneys' ability to remove waste products from your body is lowered, which may eventually lead to kidney failure and the need for dialysis.

Nervous system. You may experience pain, numbness or tingling of your fingers or numbness, lack of feeling or a burning sensation in your toes or the soles of your feet. If amyloid affects the nerves that control your bowel function, you may experience periods of alternating constipation and diarrhea. If it affects the nerves that control blood pressure, you may feel faint after standing up too quickly.

Remember that a diagnosis of amyloidosis like any serious illness will change the life of not only the patient and the career but all the family members in diverse ways.

 

Whatever is happening in your life try to maintain open communication with your loved ones.

Talk honestly and openly where possible about your feelings.

Be honest about your diagnosis.

If you are a partner or a close family member it is better to say something than nothing at all.

Be honest. If you do not know what to say, then say so.

Communicating with your children

 

Children and teenagers often sense something is wrong. Adults can underestimate how well they can deal with gentle truth. Teenagers report that they often learn about their parent’s medical problems by overhearing phone conversations.

 

Be honest about what is happening in language the young can understand.

Listen to their questions and if you feel you cannot answer them ask someone else to do so, such as a health professional.

Younger children may start to blame themselves for their parent’s illness and feel very shut out and sad if no one explains in simple language what is happening. This may result in behavior problems.

Seek advice from your primary care physician or your treatment team if you are concerned about your children.

Try to maintain as normal household routine as possible.

 

Jan Ricks Jennings, MHA, LFACHE

Senior Consultant

Senior Management Services, LLC

 

Jan.Jennings@EagleTalons.net

JanJenningsBlog.Blogspot.com

 

412.913.0636 Cell

724.733.0509 Office

 

October 15, 2021