Health News - Consultant reveals dangers of rare genetic disorders

Published: 24 June, 2010
by JOSH LOEB

WORK and personal life often merge in the medical profession, and they certainly do for Dr Derralynn Hughes.

The senior lecturer at University College London, who is a consultant at Hampstead’s Royal Free Hospital, met her husband, Dr Gregory Pastores, at a conference on lysosomal storage disorders (LSDs) – the field of rare genetic diseases in which the two doctors specialise.

Dr Pastores is a consultant and professor at New York University, and the two have taken turns in flying across the Atlantic to spend time with one another since they married in 2008. 

“Because these are such rare disorders, there are not many opportunities to work in this area within any given country,” says Dr Hughes. 

“We talk about work relatively little when we’re at home, although obviously it’s a part of both of our lives, and so we can both talk about difficult cases we’ve encountered.

But we’ve got a lot of other common interests which don’t require discussion of LSDs.”

LSDs are inherited disorders that include Gaucher’s disease, Fabry disease and Pompe disease.

They affect cellular metabolism by causing the lysosome – an organelle involved in enzyme activity – to malfunction, resulting in the build-up of waste material in cells. 

“The enzymes normally keep the cells clean,” says Dr Hughes.

“They’re like the washing powder and the cell is like the washing machine. If you don’t have the washing powder, the cell can’t keep itself clean and so storage material builds up.

“I usually say to patients that it’s like putting a rugby shirt into the wash without washing powder – it comes out grubby each time.” 

There is no cure for such disorders, although symptoms can be managed in some cases, and there is hope that in future gene therapy might provide a cure.

Gaucher’s disease, the most common LSD, affects 1 in 40,000 people in the UK. It can cause anaemia and, in some cases, brain complications.

“The second most common LSD is Fabry disease,” says Dr Hughes. “This can cause problems relating to the vascular system – that is, heart problems.

“It can also cause stroke, kidney problems and pain in the hands and feet. Sufferers can, as young people, get pains in their hands and feet which go undiagnosed.

“Because these conditions are rare and people have not heard of them, we have people who can be going to different physicians for a number of years before getting a diagnosis.” 

Pompe disease can damage muscles, causing, among other things, an increased risk of heart problems.

As part of her work, Dr Hughes tries to raise awareness of disorders such as these among medical students.

She says genetic screening is appropriate where there is a high enough incidence of a disease within a particular ethnic community (the rate of Gaucher’s disease within the Ashkenazi Jewish population is, for example, significantly higher than in the population as a whole).

The Royal Free is a designated national specialist centre for the treatment of Gaucher’s disease, Fabry disease and Pompe disease.

There is also a unit dedicated to treating LSDs at the National Hospital for Neurology and Neurosurgery in Queen Square, Bloomsbury.