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PETBioNewsCommentPeople with Marfan syndrome must be supported in starting families free of the disease

BioNews

People with Marfan syndrome must be supported in starting families free of the disease

Published 8 April 2013 posted in Comment and appears in BioNews 699

Author

Dr Anne Child

Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
CC BY 4.0
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the sequencing output from an automated DNA sequencing machine.

Marfan syndrome is a terrible disease. Families must have access to preimplantation genetic diagnosis to limit the genetic impact on their families in the future...

So, the Human Fertilisation and
Embryology Authority (HFEA) will review the list of
approved inherited conditions for which preimplantation genetic diagnosis (PGD) is currently licensed.

As related by Professor Alan Handyside and colleagues at The Bridge
Centre
in an earlier BioNews, seven disorders, of which Marfan syndrome is one, have been
selected for review.

The logic runs that as treatment and quality of life improve for
people with these conditions, so afflicted families should have less
entitlement to publicly funded PGD, which aims to prevent affected children being
born.

I do not write to query that logic. I write to say that the HFEA must
maintain its support for PGD
in the case of Marfan syndrome.

Marfan syndrome is not curable. It
begins at conception and by the time the infant is born there are already severe
manifestations which will last a lifetime. These will not only affect the
lifespan, but the quality of life.

Yes, lifespan is slowly improving due
to improved medication (beta-blockers in particular) and surgery. However, my
first contact with many of the families I see will be subsequent to a sudden
unexpected death. There is insufficient awareness of Marfan syndrome so not all
- or even the majority - of cases are diagnosed or treated.

Marfan syndrome has been calculated
to affect one in 3,330 in Europe. By this estimate there should be 18,000 known
Marfan syndrome cases in the UK. At a stretch, we know of approximately 9,000. Where
are the rest? These are the ones who go undiagnosed and die suddenly.

These people may have also had families
by the time they die suddenly so that the genetic defect is perpetuated in the
gene pool. Moreover, 25 percent of cases are the result of de novo mutations - in other words the mutation occurs spontaneously at conception with no family history of the disease. These
are usually more severe than the familial cases. Such people now benefit from
more effective therapy, including surgery, and are therefore more likely to
live into fertility. Their children have a 50 percent likelihood of inheriting this
most severe form of the disease.

These patients should be allowed to start
families free of the disease by using PGD. Without access to PGD, many will
choose to remain childless.

Quality of life remains severely affected
by the multi-system nature of Marfan syndrome. Patients do not just have
dislocated lenses and aortic aneurysms to contend with. Their eyes may be affected
by severe short-sightedness, by retinal detachment, and glaucoma.

The skeleton suffers from patients' excessive
height for which we have no effective therapy. There are chest bone
abnormalities, loose painful joints, scoliosis (often requiring surgery) and
early, and very painful, osteoarthritis so that old age really starts around age 50.

With regard to the heart, as well as running
the risk of fatal aortic dissection, patients suffer from prolapse of the heart
valves, left ventricular failure, and endocarditis. Forty percent of patients
have arrhythmias. So as well as dying at an early age, patients have very
difficult lives. I hardly need mention the burden on the NHS.

Our research has also uncovered
irritable bowel syndrome in 20 percent of cases, dental problems such as
impacted teeth, and psychological problems such as depression, isolation and
poor self-image.

Researchers and clinicians are
working as quickly as we can (one major trial will publish its results in 2018)
to find improved therapies in the form of losartan or irbesartan. There are 10
trials running internationally. Patients are enthusiastic about joining in,
because they know how awful this condition is.

In short, Marfan syndrome is a
terrible disease. Families must have access to PGD to limit the genetic impact
on their families in the future.

Related Articles

Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
CC BY 4.0
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the sequencing output from an automated DNA sequencing machine.
Comment
18 February 2013 • 5 minutes read

Policing preimplantation genetic diagnosis: patients first please

by Professor Alan Handyside and 3 others

The Human Fertilisation and Embryology Authority recently announced plans to review the list of approved inherited conditions for which preimplantation genetic diagnosis is currently licensed to ensure that it is only available for conditions which meet the statutory requirements in the UK...

Image by Alan Handyside via the Wellcome Collection. Depicts a human egg soon after fertilisation, with the two parental pronuclei clearly visible.
CC0 1.0
Image by Alan Handyside via the Wellcome Collection. Depicts a human egg soon after fertilisation, with the two parental pronuclei clearly visible.
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19 November 2012 • 2 minutes read

Sperm donor had 24 kids and a fatal genetic mutation

by Rose Palmer

A man who fathered at least 24 children by sperm donation in the US failed to inform fertility clinics that he had a rare genetic defect which is often fatal, ABC news has reported...

Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
CC BY 4.0
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the sequencing output from an automated DNA sequencing machine.
Reviews
14 February 2011 • 1 minute read

Book Review: A Guide to Preimplantation Genetic Diagnosis

by Dr Malcolm Smith

This guide is invaluable for anyone who has an interest in preimplantation genetic diagnosis (PGD), particularly those who do not have a scientific background and are interested in the regulatory and ethical issues associated with this technology...

Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the output from a DNA sequencing machine.
CC BY 4.0
Image by Peter Artymiuk via the Wellcome Collection. Depicts the shadow of a DNA double helix, on a background that shows the fluorescent banding of the sequencing output from an automated DNA sequencing machine.
Comment
22 July 2010 • 5 minutes read

Celebrating 20 years of preimplantation genetic diagnosis

by Professor Alan Handyside

At the beginning of this month, following the European Society for Human Reproduction and Embryology (ESHRE) annual meeting in Rome, a workshop was held to celebrate 20 years of preimplantation genetic diagnosis (PGD)...

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