“I went to see my GP and they sent me to a rheumatologist …they were doing a lot of tests and sending me to different doctors … for more tests and scans … All this time … the pains were so severe — they started putting me on different pain killers … but they didn’t know what treatment to use and they didn’t know what was wrong with me.”
Excerpt from unpublished interview with a patient at the UK NAC.
If you or a loved one has been diagnosed with amyloidosis or is currently undergoing the diagnostic process, the challenges described above may feel all too familiar. Many patients unfortunately endure a lengthy diagnostic journey that can last months or even years, filled with suffering, uncertainty, and distress for both them and their families. But why is amyloidosis so difficult to diagnose?
Diagnosing amyloidosis is challenging because of its nonspecific symptoms, the need for specialised tests and because it is a rare disease. Here are the main reasons:
1. Early symptoms can be non-specific (vague)
In the early stages, symptoms of amyloidosis can be attributed to lifestyle, life events or mimic more common conditions. This is because its symptoms vary widely and depend on the parts of the body that are affected. Common early symptoms like swollen feet could be explained by a spell of very hot weather, spending long periods of time on your feet, or gout. Similarly fatigue, feeling out of breath, pain or ‘pins and needles’ in your hands or feet are shared with other conditions, making it easy to overlook.
Furthermore, amyloidosis can affect many different organs (e.g., heart, kidneys, liver, nerves, etc.), so the symptoms that you might first experience would be specific to the organ that is most impacted by the amyloidosis. For instance, amyloid deposits in the heart – cardiac amyloidosis – may show up as symptoms of heart failure; if your kidneys are affected — renal amyloidosis — the symptoms might be body swelling and passing frothy urine, which might be diagnosed as a condition called nephrotic syndrome. If your doctor isn’t fully aware of amyloidosis or hasn’t had an amyloidosis patient under their care, these symptoms could be attributed to more common conditions.
2. Amyloidosis is a rare disease
Amyloidosis is not a common disease, so many doctors may not consider it as a possible diagnosis unless there are strong indications, particularly if they do not have extensive experience with the condition.
3. Diagnosis often requires a biopsy
Getting a definite diagnosis of amyloidosis often requires biopsy of an affected organ or tissue, e.g., kidney, bone marrow or soft tissue of the tummy (abdominal fat pad). Biopsy involves inserting a needle and removing a small piece of tissue, which is then examined under a microscope to make the diagnosis. Biopsy is an invasive procedure and in some patients can be risky, depending on which organ is affected and how poorly they are – so it isn’t always performed.
4. Amyloidosis is a complex condition
There are many types of amyloidosis, e.g., AL, ATTR, AA, each requiring specific diagnostic techniques such as immunohistochemistry, genetic testing, or mass spectrometry. Additionally, when these tests are performed, a certain level of experience and expertise is needed to interpret the results correctly. Without access to both the advanced diagnostic tests and the expertise to correctly read the results, patients are at risk of being misdiagnosed.
5. Symptoms often start in later age
Some types of amyloidosis develop very gradually, or only start to show symptoms in the later decades of life. This can result in patients seeking care late, and both patients and their doctors perceiving the more nonspecific symptoms as part of the aging process, thereby delaying diagnosis.
To address these challenges, early recognition of the so-called ‘red flag’ symptoms of amyloidosis and access to specialised diagnostic centres are crucial for timely diagnosis. Education of both patients and healthcare professionals is critical to reduce the diagnostic odyssey in amyloidosis; Amyloidosis UK is committed to providing essential, accessible information to address this need.
Next week we start to dig into how amyloidosis is diagnosed — what tests and assessments are needed and why. Stay tuned!
