AApoA1 Amyloidosis

AL Amyloidosis

ATTR Amyloidosis

AA Amyloidosis

AGel Amyloidosis

ALys Amyloidosis

AFib Amyloidosis

About AApoA1 Amyloidosis

AApoA1 amyloiodosis is the third most common type of hereditary amyloidosis diagnosed in the UK. Apolipoproteins are produced mainly in the liver (about 50%), and their role is to bind and transport other substances in the body. ApoA1 is the main component of HDL (the good type of cholesterol) in the blood, and also plays many other important roles in the body. Mutations in the ApoA1 gene cause the abnormal AApoA1 to misfold and form amyloid deposits mainly in the kidneys, heart and liver. SAA is a protein that is normally found in the blood in low concentrations, but production is ramped up when there is inflammation in the body.

Some severe rare inflammatory conditions that are caused by genetic mutations lead to a sustained, exaggerated inflammatory response with very high abnormal SAA levels that fluctuate; under these conditions the high SAA levels may lead to amyloid deposition. In some chronic conditions the inflammatory response may not be as pronounced, and SAA levels may remain in the low to medium abnormal range for many years; this long term exposure to moderately elevated SAA levels can also lead to the formation of amyloid deposits.

AApoA1 Amyloidosis Symptoms

Manifestations of AApoA1 are consistent with which organ or organs are mostly affected. Common symptoms of kidney, heart and liver dysfunction are:

Swollen feet and ankles (oedema)
Foamy or frothy urine
Fatigue and weakness despite adequate sleep or rest
Periods of feeling like your heart is racing or skipping a beat
Shortness of breath even when doing light exercise or tasks
Trouble walking uphill or up stairs
Poor appetite
Nausea and vomiting
Itchy skin
Yellowing of the skin and whites of eyes

Diagnosing AApoA1 Amyloidosis

AApoA1 amyloidosis is a hereditary condition and so can be relatively quickly diagnosed if detailed family medical information is available. If one or more others in the family have or had similar symptoms, a genetic test can easily confirm the diagnosis.

Your doctor may want to take a biopsy to make sure that it’s is the AApoA1 that is causing your symptoms and not some other disease. If you have no knowledge of your family’s medical history, then a biopsy, together with results from other blood and urine tests and scans will be needed to provide an accurate diagnosis.

Treating AApoA1 Amyloidosis

Organ transplant is the only available treatment option for this type of amyloidosis. As much of the abnormal AApoA1 is produced by the liver, liver transplant can help slow down the amyloid deposition and therefore the overall disease.

Kidney transplant tends to be successful as the new kidney can last for a decade or two unlike some other more aggressive types of amyloidosis like AL for instance. If your kidneys and heart are badly affected you may need to have a combined kidney and heart transplant, which means having both organs transplanted at the same time.

Combined kidney and liver transplant can be another option. Of course, single organ transplant can also be done, and depending on you health you may go for many years before needing another transplant.

Resources for All types of Amyloidosis...

Amyloidosis Alliance

Amyloidosis Research Consortium (ARC)

Cardiomyopathy UK

NHS Amyloidosis Information

One Amyloidosis Voice

Symptom tracker app (STAR)