Came across a patient today with Ehlers-Danlos syndrome at the high risk antenatal clinic, Ninewells Hospital. Its an autosomally dominant inherited disorder caused by a defect in collagen synthesis and comes on 4 major clinical sub-types - type I to IV. This patient had Type III, also known as 'Hypermobility EDS'. It affects between 1 in 10,000 and 1 in 15,000 people. A serious complication of type 4 EHD is coarctation of the aorta and this patient did have a positive family history of coarctation of the aorta. It was recommended that due to this risk in the patient, the second stage of labour should be as short as possible to minimise risk.
Discussing with the doctor afterwards I learnt that the most important thing about aortic dissection in labour is recognising it by picking up key clinical signs such as marked hypotension, severe chest pain and shock. This severe complication had caused a fatality on the ward in the past year.
On a slightly lighter note, at the pathology MDT meeting the medical stereotypes were out in force, consultant gynaecologist 'surgeons are pretty thick anyway' and my favourite from the pathologist when discussing the patient's tumour 'we could just dissect it on autopsy'. Seriously?
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