Understanding Amyloidosis or AL: The Importance of Early Diagnosis

Nov 19, 2024

Photo: Courtesy of Janssen Pharmaceutical

AL Amyloidosis, often referred to as AL, is a rare and complex disease that presents significant challenges to the medical community. Caused by the buildup of abnormal proteins in tissues and organs, this disorder can lead to life-threatening complications if left untreated. Early diagnosis is key to managing the disease effectively, preserving organ function, and improving outcomes.Without early intervention, the progression of AL Amyloidosis can significantly impact quality of life and survival. However, growing awareness and advancements in treatment options are bringing renewed hope to patients.

Let’s have a look at what AL amyloidosis is, why it’s often misdiagnosed, and how recognising its early signs can make a critical difference in patient care.

What Is AL Amyloidosis?

AL amyloidosis is a rare disease caused by the abnormal production of amyloid proteins by plasma cells in the bone marrow. These proteins misfold and deposit in tissues and organs, such as the heart, kidneys, and liver, disrupting their normal function. It is associated with conditions like multiple myeloma and requires prompt diagnosis and treatment to prevent organ damage.

Commonly affecting men aged 60 to 70, this condition can impact vital organs, including the heart, kidneys, liver, spleen, nervous system, and digestive tract. If left untreated, AL can cause life-threatening organ failure. Its varied symptoms—include heart failure, kidney dysfunction, nerve damage and gastrointestinal issues— often leading to delayed or incorrect diagnosis, complicating treatment and outcomes.

Vanessa Snow, Head of Medical Affairs at Janssen South Africa, emphasises the critical nature of early detection: “Its consequences can be devastating if it isn’t timeously diagnosed.”

Challenges in Diagnosis

A 2023 study revealed that diagnostic delays in the United States average between one and three years. Symptoms vary widely depending on the affected organs and may include:

Fatigue and unexplained weight loss
Swelling in the ankles and legs
Shortness of breath
Numbness or tingling in the hands or feet
An enlarged tongue

The diversity of symptoms often leads to misdiagnosis, as these signs overlap with many other conditions.

Types of Amyloidosis

Different types of AL Amyloidosis affect the body in distinct ways:

Light-chain/Primary Amyloidosis: Affects the heart, kidneys, nervous system, and digestive system. Conditions like multiple myeloma increase the risk.
AA/Secondary Amyloidosis: Typically linked to chronic infections like tuberculosis and affects the kidneys, liver, and digestive system.
Hereditary Amyloidosis: A genetic form impacting the heart, kidneys, nerves, and eyes.
Wild-type Amyloidosis: Associated with ageing, primarily affecting the heart and nerves.
Dialysis-related Amyloidosis: Linked to long-term dialysis, primarily causing issues in bones and joints.

Alan’s Story: A Patient’s Journey

Consider the case of Alan, a 63-year-old man who appeared healthy but began experiencing symptoms such as chest pain and shortness of breath. Initially misdiagnosed with restrictive cardiomyopathy, Alan’s symptoms persisted. Over the next two years, he experienced fatigue, rapid weight loss, bruising around his eyes, and swelling in his limbs. Despite seeing multiple specialists, he only received an accurate diagnosis—AL Amyloidosis—after developing severe symptoms, including an enlarged tongue.

Alan’s story underscores the importance of being vigilant about one’s health and seeking second opinions when treatments fail to provide relief.

Is there a Cure for AL Amyloidosis

While there is currently no cure for AL Amyloidosis, treatments can manage symptoms and slow the production of amyloid proteins. These include:

Medications to reduce amyloid production
Treatments borrowed from cancer protocols
Organ or stem cell transplants

Snow adds, “AL need not be seen as life-threatening. Careful analysis and judicious treatment can help patients manage symptoms and improve quality of life.”

The Path Ahead

Ongoing research is providing hope for improved therapies. As with many health conditions, adopting a healthy lifestyle can support overall wellbeing and resilience against the effects of AL Amyloidosis.

The key to combating this insidious disease lies in early diagnosis. Awareness and proactive healthcare can make a life-changing difference. If something feels off, listen to your body and seek professional advice promptly.