First finger and toe pain; arthritis or something more?

What?

Haemochromatosis is an inherited condition in which iron levels in the body slowly build up over many years.

This build-up of iron, known as iron overload, can cause unpleasant symptoms. If it isn’t treated, this can damage parts of the body such as the liver, joints, pancreas and heart.

Haemochromatosis most often affects people of white north European background, and is particularly common in countries where lots of people have a Celtic background, such as Ireland, Scotland and Wales.

Symptoms?

Symptoms of haemochromatosis usually start between the ages of 30 and 60.

Common symptoms include:

• feeling very tired all the time (fatigue)

• weight loss

• weakness

joint pain

• in men, an inability to get or maintain an erection (erectile dysfunction)

• in women, irregular periods

    • Osteoarthritis at a young age should be suspected where there is an absence of trauma – in particular the hand and foot and ankle joints.    

Causes?

Haemochromatosis is caused by a faulty gene that affects how the body absorbs iron from food.

You’re at risk of developing the condition if both of your parents have this faulty gene and you inherit one copy from each of them.

If you only inherit one copy of the genetic fault, you won’t get haemochromatosis, but there’s a chance you could pass the faulty gene on to any children you have.

Even if you do inherit two copies of the genetic fault, you won’t necessarily get haemochromatosis.

Only a small number of people with two copies of this genetic fault will ever develop the condition. It’s not clear exactly why this is.

Treatment?

There’s currently no cure for haemochromatosis, but there are treatments that can reduce the amount of iron in the body and reduce the risk of damage.

The main treatments are:

• phlebotomy – a procedure to remove some of your blood; this may need to be done every week at first, but can be done every few months once your iron level comes down to normal

• chelation therapy – where you take medication to reduce the amount of iron in your body; this is only very rarely used if it’s not easy to regularly remove some of your blood

You don’t need to make any big changes to your diet to control your iron levels if you’re having treatment.

But you’ll usually be advised to avoid breakfast cereals containing added iron, iron or vitamin C supplements, and drinking too much alcohol.

The role of a Physiotherapist?

A physiotherapist can pick up on arthritic-type symptoms that are occurring at a younger age where there is an absence of trauma and of joints not normally associated with arthritis – in particular the joint between the first finger and the hand, the ankle, and the mid foot area. A recognition of arthritic pain in unusual sites is more likely to be a clue to the diagnosis.

A physiotherapist, by advising a patient to request a simple blood test, could be helping an unsuspecting GP to make a diagnosis before excess iron can cause permanent organ damage. 

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