AMYLOIDOSIS

What is it?

Amyloidosis is a group of conditions in which an abnormal protein-fibre is deposited in the nerves, heart, kidneys, tongue, intestines, liver, spleen, eyes, thyroid, skin and brain.

Less commonly it affects the lungs, larynx, skin, bladder or tongue.

The deposits impair the functioning of the affected tissues and organs.

Who gets it?

Primary Amyloid affects approximately 1 in 10,000 of the population and no specific risk factors have been identified.

Secondary amyloidosis may occur post-mycobacteria infection (eg TB) and also in patients suffering from autoimmune diseases (eg rheumatoid arthritis or Crohn’s disease).

What are the symptoms?

The symptoms vary according to which tissues have been affected. The most common features are weight loss, fatigue, ankle swelling, shortness of breath, palpitations, carpal tunnel syndrome and numbness in the legs. Enlargement of the tongue may lead to difficulty in speaking and swallowing and a rash affecting the face occurs in about 15% of patients.

When should I go to my GP?

Vist your GP if symptoms suggestive of amyloidosis occur.

Once a diagnosis has been established you should seek advice if you start to suffer from breathing difficulties, increasing ankle swelling, a reduction in your urine output or other severe symptoms.

What tests will my Doctor want to do?

A tissue biopsy is needed to make the diagnosis. The site will depend on the symptoms.

Other tests which maybe useful include Chest X-Ray, ECG (heart tracing), echocardiogram (ultrasound of the heart), blood tests, abdominal ultrasound and nerve conduction studies.

What is the treatment?

There is no specific cure for amyloidosis although steroids may reduce the severity of the disease and encourage remission.

Individual problems should be treated as they occur. Severe systemic involvement may occasionally lead to organ failure and ultimately to death.

How can I stop it getting worse?

Rest and good diet are the best ways to aid recovery. Avoiding stress where possible and giving up smoking are also recommended.

If the symptoms worsen medical help should be sought early.

Will I need regular follow-up?

This depends on which tissues are affected and how badly - you may need regular tests to monitor the progress of the deposits.