Amyloidosis is a rare and often serious disease that occurs when a substance called amyloid accumulates in your organs. Amyloid is an abnormal protein usually produced by cells in your bone marrow that can be deposited in any tissue or organ.

Overview

Amyloidosis can affect different organs in different people, and its impact varies greatly from one patient to another. There are several types of amyloidosis, but the most common form is AL amyloidosis (previously termed primary amyloidosis). Depending on where the amyloid deposits, the condition can lead to a variety of health issues ranging from mild to life-threatening.

The heart, kidneys, liver, spleen, nervous system, and digestive tract can be affected, impacting their function. As it’s a complex disease, early diagnosis and appropriate treatment are crucial for managing symptoms and preventing progression.

Symptoms

The signs and symptoms of amyloidosis can vary widely, depending on which of your organs are affected. They include:

• Swelling of ankles and legs: Resulting from kidney dysfunction.
• Shortness of breath: Caused by heart involvement.
• Fatigue and weakness: General symptoms related to organ dysfunction.
• Irregular heartbeat: Indicative of cardiac involvement.
• Numbness in hands or feet: Resulting from nerve damage.
• Difficulty swallowing: Due to deposits in the throat.
• Unintended weight loss: From digestive system involvement or decreased appetite.
• Skin changes: Such as purpura (purple patches) due to blood vessel involvement.

Causes

Amyloidosis is caused by the buildup of amyloid — an abnormal protein produced by cells in your bone marrow — in your organs. The exact reason why this misfolding occurs remains elusive, but its detrimental effects on organ function are well documented.

• Primary Amyloidosis (AL): It’s the most common type and occurs when your bone marrow produces an abnormal amount of antibodies that can’t be broken down.
• Secondary Amyloidosis (AA): It’s caused by chronic inflammatory diseases like rheumatoid arthritis or inflammatory bowel disease.
• Familial or Hereditary Amyloidosis: It’s an inherited condition, with amyloid proteins stemming from liver production.
• Wild-type Amyloidosis: Previously called senile systemic amyloidosis, it’s derived from naturally occurring proteins in older adults.
• Localized amyloidosis: This kind of amyloidosis usually has a better prognosis than those that involve numerous organ systems. Localized amyloidosis is most commonly found in the bladder, skin, esophagus, or lungs. Correct diagnosis is critical in order to avoid therapies that harm the entire body.

Risk Factors

Several factors can increase the likelihood of developing amyloidosis:

• Age: Majority of people diagnosed with AL amyloidosis are between 60 and 70.
• Sex. Amyloidosis occurs more commonly in men.
• Other diseases. Having a chronic infectious or inflammatory disease increases the risk of AA amyloidosis.
• Race: People of African heritage appear to be more likely to have a genetic mutation linked to a kind of amyloidosis that can affect the heart.
• Chronic Infectious or Inflammatory Diseases: Diseases such as tuberculosis or rheumatoid arthritis can lead to AA amyloidosis.
• Family History: Those with a family history of familial amyloidosis are at increased risk.
• Kidney Dialysis: Extended dialysis can lead to dialysis-related amyloidosis as beta-2 microglobulin builds up in the bloodstream.

When to See the Doctor

Given the potential severity and complexity of amyloidosis, it’s crucial to seek medical attention if you suspect or observe any symptoms related to the disease, especially if they seem unconnected. Symptoms such as swelling in the ankles and legs, unintended weight loss, shortness of breath, or recurring fatigue should be flagged with a healthcare provider.

Regular screenings and check-ups are paramount for those with chronic inflammatory or infectious diseases, as they are at a higher risk of developing secondary amyloidosis. Likewise, if you’re undergoing prolonged dialysis, discuss with your nephrologist about the risk of amyloidosis.

In conclusion, Amyloidosis, with its multifaceted nature, represents a challenge for patients and healthcare providers alike. However, with awareness, timely diagnosis, and appropriate treatment, many of the effects and symptoms can be managed and potentially reversed. By comprehending the potential triggers and understanding the signs, one can proactively safeguard their health, ensuring a quality life even in the face of such complexities.