Case Study - An unusual cause of peripheral oedema

A rare genetic disorder was difficult to diagnose, writes Dr Barney Tinsley.

I first encountered Jim, a retired NHS employee, a couple of years ago. He had always struck me as the typical overworked, underpaid, but wonderfully cantankerous practitioner that I personally aspire to be someday.

However, within the past 18 months, he started coming to the surgery more regularly, with a collection of seemingly 'easy to treat' symptoms that appeared initially to be linked to his underlying hypertension.

Abdominal swelling was found to be ascites of the liver

Prior to this, Jim has had a short hospital admission after a series of heavy nosebleeds; his BP was high and he was started on nifedipine.

He developed quite marked ankle and leg oedema, which did not really change much over time. However, as his BP control became much better, he continued to take nifedipine with annual monitoring until around 2006.

Jim, a non-smoker who rarely drank alcohol, then began to tire easily, with poor exercise tolerance and appetite. ECG and blood testing did not reveal an underlying cause.

Nifedipine was changed to bendroflumethiazide, with some improvement of the peripheral oedema and breathlessness; he remained normotensive.

Hepatological diagnosis
Unfortunately, a few months later, Jim started feeling very lethargic once again. He had very sluggish movements, seemed to feel the cold a great deal more, and developed marked abdominal swelling.

Our GP registrar, who had just done a GI medicine and hepatology placement, made the eventual breakthrough with the now known diagnosis of alpha-1-antitrypsin deficiency (A1ATD); his abdominal swelling was ascites.

Jim was referred to his local hospital urgently, where his chromosomal studies confirmed the Pi-ZZ form of A1ATD.

A1ATD is a rare, autosomal dominant disorder. Alpha-1-antitrypsin (A1AT) is a glycoprotein, produced by the liver. It acts as a protease inhibitor, with one of its main roles to inhibit the breakdown of elastin to elastase in the lungs.

This particular process, if left unchecked, can lead to severe emphysematous change. The Pi-ZZ form of A1ATD leads to a severe deficiency of A1AT; Jim's case is unusual in that there were no respiratory symptoms.

Jim was referred from his local hospital to an Antitrypsin Deficiency Assessment and Programme for Treatment team.

He underwent a series of inpatient investigations for around 10 days, and was approved to be placed on the priority list for a liver transplant.

Although artificial forms of A1AT exist, these have efficacy in those with pulmonary compromise only.

Jim underwent a liver transplant operation and appears to be making a very good recovery.

  • Dr Tinsley is a salaried GP in Bradford.

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