Medical professionals in the NHS are working under immense time pressures. General Practitioners (GPs) are invariably the first point of contact and will often meet a patient to discuss a new or persistent symptom. Initially at least, GPs will quite understandably focus on treating that symptom, not always identifying the underlying cause.
However, presentation of multiple and/or persistent symptoms from the range of complaints that are associated with genetic haemochromatosis (GH) should prompt further investigation, in particular for transferrin saturation and serum ferritin.
“Doctor, I’m so tired all the time … … “
“Doctor, my periods are very light or are missed altogether … …”
“Doctor, I’ve got this pain in my tummy … …”
“Doctor, I’m getting terrible arthiritis in my hand … …”
“Doctor, I think I might be impotent … …”
Sometimes, even experienced doctors discussing the more serious symptom won’t make the connection between that issue and several other symptoms that could lead to a diagnosis of haemochromatosis and therefore to quite straightforward treatment.
- Chronic fatigue, weakness, lethargy
- Diabetes (late onset type)
- Liver disorders; abnormal liver function, enlarged liver, cirrhosis, liver cancer
- Sexual disorders; loss of sex drive, impotence in men
- Absent or scanty menstrual periods and early menopause in women
- Decrease in body hair
- Cardiomyopathy; disease of the heart muscle
- Abdominal pain; sometimes in the stomach region or the upper right hand side,
- Arthritis; particularly in the knuckle and first joint of the first two fingers
- Neurological/psychiatric disorders; impaired memory, mood swings, irritability, depression
- Bronzing of the skin, or a permanent tan, or grey tone
What can a GP do?
The charity asks that medical professionals who may come into contact with people presenting any of these symptoms, and GPs in particular, undertake to do these six things:
- Be aware. Take the trouble to read about GH and the wide range of symptoms that result
- Be open minded. On presentation of any of the symptoms, consider GH as a possible underlying cause
- Be prepared to check. On presentation of any of the symptoms, order TS and SF tests, they are very inexpensive, quick and effective
- Follow up. On diagnosis, please follow up with your patient’s family members – GH is an inherited disorder and others are likely to need to be aware, or require treatment themselves
- Refer and refer. On diagnosis, be ready to refer your patient to multiple specialists – gastronenterologist, haematologist, cardiologist, geneticist, and others
- Provide support. On diagnosis, ensure the patient is made aware of The Haemochromatosis Society and this website so they can get the information and support they will need in both the short and long term
Early diagnosis means that treatment (venesection) can commence before major organ damage.
Early diagnosis reduces the costs and demands on limited NHS resources.
Early diagnosis is simple and cheap to confirm.
Early diagnosis saves lives.
In the UK, about 250,000 people have a genetic predisposition to haemochromatosis. Only some 10,000 are currently diagnosed but there is evidence that several times that number have tissue damage and disease caused by iron overload. This note is designed to assist GPs in making an early diagnosis of haemochromatosis.
Haemochromatosis is a genetic iron overload disorder. Iron may accumulate from the early twenties onwards, usually later in women. Excess iron is deposited in the liver, as well as the pancreas, other endocrine glands and the heart. Untreated, it may result in irreparable organ damage, including cirrhosis of the liver, late onset diabetes or cardiomyopathy. There may be heavy overload before any symptoms appear. There is strong evidence that early treatment, normally by venesection, preserves normal life expectancy.
Iron overload can give rise to a wide range of non-specific symptoms and clinical findings. Individuals of European origin presenting with any of the symptoms above, and particularly a combination of two or more, should be considered for investigation for possible iron overload, which would suggest GH (particularly for individuals aged under 50). Arthritis, particularly if it occurs initially in the first and second knuckles, is highly suggestive of GH.
Test such individuals for iron overload by measuring transferrin saturation (in some hospitals a “transferrin index” is calculated). A transferrin saturation >50% (or a raised transferrin index) indicates a risk of iron accumulation, and the patient should be referred to secondary care for further tests. It is important to discuss with any patient diagnosed with GH the desirability of genetic testing for other members of the family. There is at least a 1 in 4 chance that a sibling will have GH. Family checks frequently lead to detection of GH before organ damage has occurred.
Among people of Northern European descent GH is the predominant cause of iron overload. It is an autosomal recessive condition. Some 95% of patients in the UK, with a genetic iron overload, are homozygous for the HFE C282Y gene mutation. In the general population 1 in 200 people have this genotype. Of these most accumulate iron but only a minority will go on to develop clinical symptoms. Additional causative agents seem to be involved but have not yet been clearly demonstrated. A raised transferrin saturation is an early indication of a risk of iron accumulation. A raised serum ferritin will confirm increased iron stores but ferritin may be elevated in many other conditions.
You can download 2010 EASL Clinical Practice for Haemochromatosis Guidelines here.
The guidance in this note has been endorsed by the medical and scientific advisors to the Haemochromatosis Society. The need for treatment to remove excess iron does not depend upon the presence of clinical symptoms; the risk of developing a serious complaint such as cirrhosis is much too great to be overlooked.