Catch Amyloidosis Symptoms Early On Before It's Too Late

Amyloidosis is a rare disease characterized by abnormal accumulation of amyloid proteins in organs and tissues that can progress rapidly and become dangerous if not detected early.

By becoming familiar with the warning signs, you can identify possible signs that indicate this condition's presence.

What is amyloidosis?

1. Abnormal protein deposition in tissues/organs

Amyloidosis is a rare, complex disease characterized by the deposition of abnormal protein fibrils, called amyloid, in tissues and organs. These deposits interfere with normal organ function and may lead to organ failure. Accumulation can occur in various organs and affects the heart, kidneys, liver, and nerves.

2. Causes and risk factors

The underlying cause of amyloidosis depends on its type, with possible triggers including genetic mutations, chronic inflammatory response and bone marrow disease, according to the Mayo Clinic. Risk factors include family history, age, certain diseases such as multiple myeloma, and chronic inflammatory diseases. Kidney dialysis also increases the risk due to long-term exposure to abnormal proteins.

General symptoms of amyloidosis

1. Fatigue and weakness

Common symptoms of amyloidosis include symptoms such as fatigue and weakness, according to Johns Hopkins University Medical Center. The accumulation of abnormal amyloid protein in organs can affect their normal function and reduce energy levels. Over time, this can lead to ongoing fatigue and an inability to carry out daily activities with the usual energy.

2. Shortness of breath

Amyloid deposits in the heart or lungs usually cause shortness of breath in people with amyloidosis. Restrictive cardiomyopathy can occur in the heart and affects the heart's ability to pump blood properly. In the lungs, protein accumulation affects respiratory function, making it difficult for patients to breathe freely.

3. Unintentional weight loss

Unintentional weight loss is a worrisome symptom of amyloidosis. The presence of amyloid disrupts the function of the gastrointestinal system and reduces nutrient absorption. Additionally, the disease reduces appetite and increases metabolic demands, resulting in significant weight loss without deliberate dieting or exercise.

4. Swelling of ankles and legs

The swelling or surrounding oedema in the ankles and legs results from amyloid protein building up in the kidneys or heart. When the kidneys are affected, they may lose their ability to filter excess fluid effectively. If the heart is affected, its ability to pump blood may be impaired, causing fluid to accumulate in the lower limbs.

Amyloidosis symptoms based on the affected area

Heart (cardiac amyloidosis)

1. Irregular heartbeat

Arrhythmia, or cardiac arrhythmia, is a common symptom of cardiac amyloidosis. Amyloid accumulates in heart tissue and disrupts electrical impulses and heart rhythm.

Patients may experience cardiac arrest, heart flutter, or rapid heart rate. Over time, untreated arrhythmias can lead to complications such as heart failure or stroke.

2. Chest pain or tightness

Cardiac amyloidosis causes reduced blood flow due to the accumulation of amyloid protein in the heart. This restriction may cause chest pain or tightness. This discomfort may be confused with angina.

Physical exertion often worsens the condition as the heart struggles to meet the body's oxygen needs, resulting in ischemia or insufficient oxygen supply.

3. Heart palpitations

People with cardiac amyloidosis often report palpitations, which are described as the sensation of their heartbeat. Heart palpitations may feel like a fast, throbbing, or pounding heartbeat.

The accumulation of amyloid affects the heart's electrical system and causes these disturbing feelings. If you have frequent heart palpitations, seeing your doctor is essential.

Kidney (renal amyloidosis)

1. Swelling of ankles and legs

Renal amyloidosis causes a decrease in kidney function and leads to fluid accumulation in the body. This usually manifests as swelling, especially in the ankles and legs. Swelling (called oedema) occurs when the kidneys cannot effectively remove excess fluid and sodium from the blood.

2. Protein in urine

Healthy kidneys usually filter out waste products and retain essential proteins in the blood. In renal amyloidosis, the affected kidney releases protein into the urine, a condition called proteinuria. This can be determined with a urine test. Persistent proteinuria may be a sign of severe kidney damage.

3. Nephrotic syndrome

Nephrotic syndrome is a set of symptoms caused by kidney damage. In renal amyloidosis, amyloid protein deposited in kidney tissue can lead to nephrotic syndrome, characterized by severe proteinuria, low protein levels in the blood, high cholesterol, and swelling (especially in the legs and around the eyes). It indicates advanced renal dysfunction requiring immediate medical intervention.

Nervous System

1. Numbness, tingling or pain in hands and feet

Amyloidosis affects the nervous system and causes peripheral neuropathy. This can cause numbness, tingling, or pain, especially in the hands and feet. The accumulation of amyloid damages nerves disrupts signal transmission and causes these distressing symptoms.

2. Dizziness when standing (orthostatic hypotension)

Amyloidosis impairs autonomic nervous system function and causes orthostatic hypotension. (3) This condition manifests as dizziness or dizziness when standing up from a sitting or lying position. Abnormal protein deposits can affect the body's ability to regulate blood pressure, causing sudden drops in blood pressure when changing positions.

Digestive System

1. Diarrhea or constipation

Amyloidosis in the digestive system can disrupt regular bowel movements. The accumulation of amyloid in intestinal tissue can lead to abnormalities such as diarrhoea or constipation. These symptoms are caused by impaired peristalsis and absorptive capacity of the affected intestine.

2. Feel full quickly

When amyloid proteins accumulate in the stomach or intestines, they cause the intestinal walls to thicken, causing them to become less elastic. This may prevent the stomach from expanding as it usually does. Even small amounts of food can create a feeling of fullness, often leading to unintended weight loss.

3. Nausea or vomiting

Amyloid deposits in the digestive system can interfere with the normal function of the stomach and intestines. The disease can cause nausea and even vomiting. These symptoms may occur particularly frequently after eating and may be accompanied by abdominal pain or discomfort.

Liver

1. Jaundice (yellowing of skin and eyes)

Jaundice is a prominent symptom of hepatic amyloidosis. This is due to the liver's inability to process bilirubin, causing bilirubin to build up in the blood. This gives the skin and eyes a yellowish appearance. Jaundice is a sign that the liver is not functioning optimally and can also cause itching and darker urine.

2. Liver enlargement

Hepatic amyloidosis can cause hepatomegaly or enlargement of the liver. This occurs when amyloid protein builds up in liver tissue, causing it to swell and grow beyond its standard size. An enlarged liver may be palpable on physical examination and cause right upper abdominal discomfort.

Lungs

1. Shortness of breath

Pulmonary amyloidosis can cause shortness of breath due to abnormal accumulation of amyloid protein in lung tissue. These deposits can stiffen the lung tissue and impair its ability to expand and contract efficiently.

As a result, people may find it challenging to get enough air, especially during physical exertion, resulting in shortness of breath and reduced oxygen uptake.

2. Persistent cough

Persistent coughing in people with amyloidosis may be caused by irritation caused by amyloid deposits in the lungs or airway tissue. These deposits interfere with the normal function of the airways, causing chronic inflammation and triggering persistent coughing.

This cough, which may be dry or mucus-producing, can be distressing and further impair the patient's quality of life.

Less common symptoms of amyloidosis

1. Enlargement of the tongue (macroglossia)

Macroglossia, or tongue enlargement, is a less common symptom of amyloidosis. This occurs when amyloid builds up in the tongue tissue, causing swelling and thickening. This enlargement can lead to dental indentation, difficulty speaking, and even airway obstruction, making it a potentially serious condition.

2. Skin changes (purpura, bruises)

Amyloidosis can cause skin changes, especially purpura and easy bruising. Purpura is a purple-red discolouration of the skin caused by bleeding under the skin. In amyloidosis, blood vessel walls become weakened by amyloid deposits, making them more susceptible to rupture and causing these noticeable skin changes.

3. Difficulty swallowing

Dysphagia, or dysphagia, in people with amyloidosis, is caused by amyloid deposits in the throat or oesophagus that interfere with normal muscle function needed for swallowing. This can lead to discomfort, possible malnutrition, and an increased risk of aspiration (food or liquid going into the lungs instead of the stomach).

The importance of early diagnosis

Early diagnosis of amyloidosis allows treatment to be started immediately, thus preventing organ damage. It can also reduce the risk of complications and enable a tailored treatment strategy. Early intervention can slow disease progression, ensure prompt treatment of symptoms and protect organ function.

Prompt diagnosis of amyloidosis can significantly improve prognosis and increase the chance of more prolonged survival. Additionally, it may enhance quality of life by relieving symptoms and delaying disease-related morbidity.

Patients can participate in daily activities more effectively, enjoy better emotional health, and experience fewer hospitalizations or medical procedures.

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