A woman in a yellow jumper using eye drops

AGel Amyloidosis

About AGel Amyloidosis

Gelsolin is the precursor protein in this type of hereditary amyloidosis. Gelsolin is made in the muscles and plays an important role in the structure of cells that make up the different tissues in the body; it also plays a part in wound healing.

In AGel amyloidosis a genetic mutation in the gelsolin gene results in abnormal gelsolin which forms amyloid deposits. This most commonly affects the nerves, eyes and skin; in some patients the kidneys and heart can also be affected.

Person holding an inflamed elbow

AGel Amyloidosis Symptoms

Man holding his neck
A wide range of symptoms can accompany AGel amyloidosis. Some of the more common ones are:
  • Gradual deterioration of vision
  • Droopy eyelids
  • Dry eyes and mouth
  • Loss of movement in the face (facial palsy or paralysis)
  • Easy bruising
  • Dry, itchy skin
  • Pain, tingling and weakness of the hands
  • Problems with balance and movement

Diagnosing AGel Amyloidosis

Because AGel amyloidosis is a hereditary condition, it can be quickly diagnosed by a genetic test if one or more others in the family have similar symptoms. The typical triad of eye, skin and nerve symptoms are the hallmark of AGel amyloidosis and therefore make it somewhat easier to diagnose than other types.

 

Your doctor may want to take a biopsy to make sure that it’s is the AGel 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.

A doctor giving a diagnosis