Symptoms and Signs of Amyloidosis

Executive Summary:

The signs and symptoms entirely depend upon the amyloid protein build-up within the body. The affected individuals may not experience any signs and symptoms in some cases. Weakness or extreme fatigue, sudden or unexplained weight loss, swelling in legs and ankles, numbness or tingling effect in foot and hands, pain in joint and muscles, shortness of breath, diarrhoea and constipation, low RBC level, skin bruises, rashes, enlarged tongues, irregular heartbeat, and high risk of contracting diseases are the common symptoms in case of Amyloidosis. Some of the major organs such as the heart, kidney, gastrointestinal tract, nervous system, lungs, liver, and thyroid gland are affected, known as the second sign and symptoms of Amyloidosis.

What are the primary signs and symptoms of Amyloidosis?

In addition to Amyloidosis Symptoms and signs that help people to detect abnormalities in their body functions, the timely diagnosis of signs and symptoms can help detect a disease condition and ensure proper treatment and cure. While Amyloidosis can cause a wide range of signs and symptoms, people will experience symptoms based on the organ(s) affected by the amyloid protein build-up. Also, it is said that the signs and symptoms of Amyloidosis may not be experienced or visible until the condition becomes aggressive or advanced. 

Amyloidosis is a rare but severe disease condition and people with Amyloidosis may not experience any symptoms or signs. While same symptoms of Amyloidosis may be indicating some other disease condition in a person, people should not ignore amyloidosis symptoms, assuming they mean other less severe disease conditions. All these factors can hinder the proper, timely diagnosis of Amyloidosis.

People should watch for any of the signs or symptoms mentioned below and report them at the earliest to your healthcare provider to ensure proper diagnosis and timely care.

General signs of Amyloidosis

• Weakness or extreme fatigue- people with the amyloid build-up in their organs may feel exhausted, even after a minute task, as well as experience constant weakness and lack of energy.

• Sudden or unexplained weight loss- people with Amyloidosis may experience sudden weight loss for no particular reason. They may appear pale and tired. Statistics reveal that people can lose up to 10 pounds due to Amyloidosis. 

• Swelling in legs and ankles – people may find moving with aching legs and ankles challenging.
• Tingling pain or numbness in feet and hands. Sometimes the pain will be specifically around the wrist area. It may be indicating carpal tunnel syndrome (a disease usually associated with Amyloidosis). 
• Pain in joints and muscles.
• Shortness of breath, even with minimal exertion or work. Some people find it difficult to lie flat in bed due to breathing difficulties. 
• People may also experience diarrhoea and constipation.

Symptoms of Amyloidosis:

• People with Amyloidosis may appear anaemic due to low levels of RBC.
• Changes in skin such as bruises rashes around the eye. Sometimes the skin around the eye may appear thick or with purple patches.
• People may find difficulty in swallowing food and liquids.
• Some people will have enlarged tongues, which may appear as rippled around the edges.
• Irregular heartbeat
• Stools have unusual colors (they may appear clay-colored).
• Prone to infections: people with Amyloidosis (specifically AL amyloidosis) are at a high risk of contracting diseases, furthermore these conditions affect the plasma cells, which are primarily responsible for producing immunoglobulins and helping the body fight infections. The lack of white blood cells in the body can cause leukopenia as well. Additionally, some kinds of white blood cells called neutrophils can destroy harmful fungi and bacteria and help the body fight infections. But for people with disease conditions like neutropenia or leukopenia, the neutrophil level will be shallow, thereby failing to guard the body against infections.

Organ-specific signs and symptoms

Amyloidosis symptoms and signs vary depending on the organ affected by the amyloid protein ^​1​. Given below are organ-specific signs and symptoms of amyloidosis condition.

• Heart: Amyloidosis can cause irregular heartbeat, a condition called arrhythmia. It can affect the proper functioning of the heart and sometimes lead to fluid build-up, thereby causing shortness of breath, irregular heartbeat, and chest pain ^​2​.

• Kidneys: Amyloid protein build-up can affect the kidney’s filter waste materials and protein breakdown, resulting in protein build-up in the urine, making it foamy, in addition, Amyloid build-up can even cause kidney dysfunction. Analyzing the urine output, creating clearance tests, and blood tests can help study the functioning of the kidney.

• Lungs: Amyloidosis can cause breathing issues like shortness of breath. These issues can interfere with people’s daily activities.

• Liver: Amyloidosis can cause liver enlargement, thereby affecting its normal functioning. While primarily, this condition can cause swelling and pain in the abdomen and variations in liver enzymes, blood tests can be used to detect such variations.

• Thyroid gland: Amyloid deposits in the thyroid gland can cause a non-cancerous swelling, and this condition is called goiter.  

• Gastrointestinal tract: An amyloid build-up in the gastrointestinal tract can cause problems digesting food and absorbing nutrients. While it can cause other conditions like constipation, diarrhoea, bleeding, thickened tongue called macroglossia and specific blockages ^​3​ , it can also affect the esophagus, causing gastroesophageal reflux disease (GERD).

• Nervous system: Amyloidosis can cause various neurological complications. Out of these, the most common ones are peripheral nerve disorders. People may feel unusual sensations, numbness and issues with balance, in addition to difficulties like vomiting, constipation, diarrhoea, excess sweating, sexual troubles etc. One may experience peripheral neuropathy, which can cause tingling sensations or weakness in the legs and arms. Amyloidosis can also cause Carpal tunnel syndrome. 

Precautions and tips to manage symptoms

If you experience any of these symptoms or body changes, please consult a doctor and talk to them. Your doctor may enquire about how long you have been experiencing these signs and symptoms, in addition to asking additional questions to arrive at a proper diagnosis.

Relieving symptoms form an essential part of the treatment strategy. And this part of the care is called supportive or palliative care. It is begun soon after the disease diagnosis and continues throughout the active treatment period. During treatment, patients are urged to observe for any symptoms they are experiencing and keep track of them, including any new symptoms or changes.

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