Inherited or metabolic liver disease service

What is inherited or metabolic liver disease? 

The focus of this clinic is patients with Wilson’s disease and haemochromatosis or rare iron overload disorders. 

What is Wilson’s disease? 

Wilson’s disease is a rare genetic disorder that is fatal unless detected and treated before serious illness develops from copper poisoning. Wilson's disease affects about one in thirty thousand people worldwide.  

A genetic variant causes excessive copper accumulation. Small amounts of copper are essential for the body to maintain its life functions. Copper is present in most foods, appearing in various quantities and this depends on the food type, location where it is grown and how the food is processed. Most people get much more dietary copper than they need and healthy people excrete the copper they don't need. However, Wilson's disease patients cannot excrete copper.  

The symptoms usually appear during adolescence, but symptoms have presented as early as 5 years and as late as 50 years. Patients may present with a wide spectrum of symptoms.  

Patients may present with symptoms of liver (abnormal liver blood tests, jaundice, abdominal swelling, abdominal pain) or neurological disease such as tremors, chorea (coordination difficulties such as with handwriting), gait disturbances, balance disorders, stiffness or rigidity (dystonia), difficulty walking, talking (slurring) and swallowing, and may drool. They may develop all degrees of mental illness including homicidal or suicidal behaviour, depression and aggression. Women may have menstrual irregularities, absent periods, infertility or multiple miscarriages. No matter how the disease begins, it is always fatal, if it is not correctly diagnosed and treated.  

Medical treatment can improve symptoms and many patients with Wilson’s disease can lead a normal life if they adhere to their treatment and medical follow up. Treatment options include copper chelators (penicillamine or trientine) or zinc. 

What is haemochromatosis? 

Haemochromatosis is an inherited metabolic disorder causing the body to absorb an excessive amount of iron from the diet. Excess iron (caused by iron overload) is extremely toxic and can affect many parts of the body. Genetic haemochromatosis affects everyone differently. Many people experience one or more symptoms. But some people don't experience any noticeable symptoms as a result of genetic haemochromatosis. Symptoms can include arthralgia or arthritis, chronic fatigue, diabetes, sexual dysfunction, hypothyroidism, liver fibrosis and cirrhosis and cardiomyopathy. 

When people are diagnosed with genetic haemochromatosis and associated iron overload, they are treated with bloodletting (venesections), which removes the excess iron from the body. 

What do we offer in the inherited or metabolic liver disease clinic? 

Clinical care: We offer a consultant-led clinic by Professor Tsochatzis. We also offer a nurse-led venesection service for patients with haemochromatosis. For patients with Wilson’s disease, there is collaboration with neurologists and ophthalmologists to provide a multidisciplinary service. 

The clinic is supported by specialist multi-disciplinary teams including histopathology, radiology and interventional radiology and is closely linked to the Royal Free Hospital liver transplant service. 

Research focus: in addition to specialist clinical care we also offer a portfolio of clinical trials and a rage of research projects exploring the causes, management and outcomes of Wilson’s disease or haemochromatosis and its impact on patients’ lives. If they wish, patients may be eligible to take part in these studies to contribute to research, to donate samples (such as blood) to a research archive (biobank) and potentially to access novel treatments in clinical trials. 

Useful contacts: 

Telephone: 020 3758 2000 X33575 

Email – administration: 

Email – clinical nurse specialists (for current patients): 

Patient support organisations:  

1) The British Liver Trust:

The British Liver Trust is a UK-wide health charity that promotes liver health, campaigns to raise awareness about liver diseases and provides information and support for patients with liver diseases.  

2) Wilson’s disease support group UK:

The Wilson’s disease support group UK  is an all volunteer organisation which strives to promote the well-being of patients with Wilson's Disease and their families and friends. 

3) Haemochromatosis UK:

Haemochromatosis UK is a charity that works to support anyone affected by the condition, across three key areas: Support, education & awareness and medical research.