Abdominal aortic aneurysm screening for men: Please acknowledge a genetic dimension
Abdominal aortic aneurysm screening for men: Please acknowledge a
genetic dimension
“Among those who could potentially benefit from screening” [1]
missing was any significant mention by S G Thompson and colleagues of a
genetic disposition [1].
SUDDEN MALE DEATHS IN FAMILY SINCE 1870
Professor Jonathan Addy and Professor Harold Philips sent a
distinguished Ghanaian gentleman to me in London from Accra to have his
huge abdominal aortic aneurysm dealt with as soon as possible. On arrival
with his wife he said to me the hospital he was being referred to
originally could not see him before the 9th of the following month. When I
felt the pulsating football size mass in the abdomen, I said to him “You
are sitting on a time bomb”. There was palpable silence. I added: “I am
going to get you someone to help you almost immediately”. I picked up the
telephone and spoke to Mohankumar Adiseshiah, a fellow former Westminster
Hospital Medical School graduate. He would see my patient the very next
day, investigate him, and operate the day after.
My wife and I visited the patient the day after surgery and, smiling, he said to me: “Felix, do
you remember you said to me I was sitting on a time bomb? And I kept
quiet?” Yes, indeed, I said. “Well” he went on: “As of today, I am the
oldest male survivor in my family since the year 1870”. All males,
including younger siblings, had died suddenly before his then age of 65
years.
GENETIC PROCLIVITY
According to Professor Sir David Weatherall MD FRCP FRS “there is an
increasing body of evidence that genetic factors play an important role in
producing the pathological changes in the wall of the abdominal aorta
which lead to the formation of aneurysms” [2]. Our patient lived for
another 12 years after he was operated upon by Mr
Mohankumar Adiseshiah MA MS FRCP FRCS, who has kindly given me permission
to mention his name. I also obtained permission from the patient’s widow
to report her husband's case. We need to make use of the present
global genome sequencing exercise to help in genetic counseling [3], for
would “the benefit of inviting men aged 65-74 to screening for aortic
abdominal aneurysm” [1] not increase exponentially if we took more
cognizance of the fact that the pathology ran in families? Indeed, “the
long arm of chromosome 16” [2] may well be the site of the offending gene.
Screening of Africans would need to commence at least a decade before 65
years of age.
Felix ID Konotey-Ahulu MD(Lond) FRCP(Lond) FRCP(Glasg) DTMH(L’pool)
Kwegyir Aggrey Distinguished Professor of Human Genetics University of
Cape Coast, Ghana and Consultant Physician Genetic Counsellor in Sickle
and other Haemoglobinopathies, 10 Harley Street, London W1G 9PF.
1 Thompson SG, Ashton HA, Gao L, Scott RAP, on behalf of the
Multicentre Aneurysm Screening Study Group. Screening men for abdominal
aortic aneurysm: 10 year mortality and cost effectiveness results from the
randomized Multicentre Aneurysm Screening Study. http://www.bmj.com/cgi/content/full/338/jun24_2/b2307
BMJ 2009; 338:b2307 doi: 10.1136/bmj.b2307. (24 June 2009)
2 Weatherall DJ. Molecular genetics and common diseases. Chapter 7
in The New Genetics and Clinical Practice. Oxford University Press, Oxford
1991, page 211.
Rapid Response:
Abdominal aortic aneurysm screening for men: Please acknowledge a genetic dimension
Abdominal aortic aneurysm screening for men: Please acknowledge a
genetic dimension
“Among those who could potentially benefit from screening” [1]
missing was any significant mention by S G Thompson and colleagues of a
genetic disposition [1].
SUDDEN MALE DEATHS IN FAMILY SINCE 1870
Professor Jonathan Addy and Professor Harold Philips sent a
distinguished Ghanaian gentleman to me in London from Accra to have his
huge abdominal aortic aneurysm dealt with as soon as possible. On arrival
with his wife he said to me the hospital he was being referred to
originally could not see him before the 9th of the following month. When I
felt the pulsating football size mass in the abdomen, I said to him “You
are sitting on a time bomb”. There was palpable silence. I added: “I am
going to get you someone to help you almost immediately”. I picked up the
telephone and spoke to Mohankumar Adiseshiah, a fellow former Westminster
Hospital Medical School graduate. He would see my patient the very next
day, investigate him, and operate the day after.
My wife and I visited the patient the day after surgery and, smiling, he said to me: “Felix, do
you remember you said to me I was sitting on a time bomb? And I kept
quiet?” Yes, indeed, I said. “Well” he went on: “As of today, I am the
oldest male survivor in my family since the year 1870”. All males,
including younger siblings, had died suddenly before his then age of 65
years.
GENETIC PROCLIVITY
According to Professor Sir David Weatherall MD FRCP FRS “there is an
increasing body of evidence that genetic factors play an important role in
producing the pathological changes in the wall of the abdominal aorta
which lead to the formation of aneurysms” [2]. Our patient lived for
another 12 years after he was operated upon by Mr
Mohankumar Adiseshiah MA MS FRCP FRCS, who has kindly given me permission
to mention his name. I also obtained permission from the patient’s widow
to report her husband's case. We need to make use of the present
global genome sequencing exercise to help in genetic counseling [3], for
would “the benefit of inviting men aged 65-74 to screening for aortic
abdominal aneurysm” [1] not increase exponentially if we took more
cognizance of the fact that the pathology ran in families? Indeed, “the
long arm of chromosome 16” [2] may well be the site of the offending gene.
Screening of Africans would need to commence at least a decade before 65
years of age.
Felix ID Konotey-Ahulu MD(Lond) FRCP(Lond) FRCP(Glasg) DTMH(L’pool)
Kwegyir Aggrey Distinguished Professor of Human Genetics University of
Cape Coast, Ghana and Consultant Physician Genetic Counsellor in Sickle
and other Haemoglobinopathies, 10 Harley Street, London W1G 9PF.
felix@konotey-ahulu.com
Conflict of Interest: None declared
1 Thompson SG, Ashton HA, Gao L, Scott RAP, on behalf of the
Multicentre Aneurysm Screening Study Group. Screening men for abdominal
aortic aneurysm: 10 year mortality and cost effectiveness results from the
randomized Multicentre Aneurysm Screening Study.
http://www.bmj.com/cgi/content/full/338/jun24_2/b2307
BMJ 2009; 338:b2307 doi: 10.1136/bmj.b2307. (24 June 2009)
2 Weatherall DJ. Molecular genetics and common diseases. Chapter 7
in The New Genetics and Clinical Practice. Oxford University Press, Oxford
1991, page 211.
3 Konotey-Ahulu FID. Human Genetics Commission (HGC) and direct to
consumer Genetic Tests, leading to Genetic Counselling. BMJ Rapid Response
May 27 2009. http://www.bmj.com/cgi/eletters/338/may15_2/b1995#214256
Competing interests:
None declared
Competing interests: No competing interests