Volume 8, Issue 7: Alpha-1 AntitrypsinAuthors: Charlie Earle, Tom Hewes, Nikki Williams
Alpha-1 Antitrypsin – the unsuspecting patient
Three red calls so far and each one downgraded, it feels like you are just being bounced from one part of the city to another. The MDT pings to life again ‘45 year old female, struggling to breathe…’
On arrival you assess the patient and administer salbutamol and oxygen, she seems to respond well but while en route to the hospital her clinical status starts to deteriorate – why? And what do you do next?
Undiagnosed chronic obstructive lung disease (COPD) is unusual but can cause complications in the treatment of breathlessness because COPD patients may become hypercapnic (retain CO2) when placed on high flow oxygen.
Alpha-1 antitrypsin (A1AT) deficiency is a genetic disorder associated with the early onset of COPD (specifically emphysema) and liver disease. About 2% of all COPD patients have undiagnosed A1AT deficiency and delayed diagnosis is a problem, with patients averaging a delay of over five years between initial GP visit and official diagnosis.
This article highlights common presentations, signs and symptoms of A1AT deficiency that you should be aware of when attending and managing a breathless patient.
You can check your answers to the quiz by clicking the link below: