One of the most dangerous and potential life threatening symptoms of AKU occurs when HGA accumulates in the blood vessels (veins and arteries) and
inside of the heart. The HGA present in the blood sticks to the vessels and valves of the heart, causing them to harden. They then become blackened,
brittle and less effective at managing the flow of blood around the body. This can cause increased blood pressure and it is thought to lead to heart
After the age of 40, patients should be monitored for possible heart complications related to AKU. An echocardiogram (ECG) can detect problems with the heart valves and a CT scan of the chest can detect problems with the arteries. Blood pressure can be controlled with medication.
Some AKU patients may need a heart valve replacement. Surgeons have reported that it’s a difficult surgery to perform, due to hard and brittle tissue surrounding the heart. It is thought that there is a risk that debris from the damaged tissue can fall into the blood stream and increase a patient’s risk of stroke.
There has been an increase in AKU patients reporting problems with their heart, blood pressure and cholesterol. These are the only symptoms of alkaptonuria that has the potential to be fatal.
Some health professionals believe the link between heart problems and AKU may have been previously underestimated. However, involvement of the heart is still believed to be an uncommon symptom, usually occurring later in life.2
Published: 24.07.16 Next Review Date: 24.07.19
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