Iron deficiency anaemia in a young woman: a plea for early investigation

Author: Anonymous

Med J Aust 2013; 198 (10): 562. || doi: 10.5694/mja12.11505
Published online: 3 June 2013

A tragic case of delayed diagnosis prompts a question from the patient’s father: are current guidelines appropriate and correctly interpreted in practice?

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Following a tragic case of late diagnosis of colorectal cancer, a father calls for an overhaul of current guidelines for the investigation of iron deficiency anaemia in premenopausal women

M y 29-year-old daughter tragically died of metastatic colon cancer in 2010, after late diagnosis of the primary caecal tumour.

At 22 years of age, she was lacking in energy and generally feeling unwell. She presented early to her local medical clinic where she was found to have severe iron deficiency anaemia (IDA) (haemoglobin, 61 g/L). Supplemental iron tablets were prescribed over a period of 6 months, with some improvement, although her iron reserves remained depleted. She was referred to a gastroenterologist, who examined her and performed a gastroscopy to test for coeliac disease. Nothing untoward was discovered; a colonoscopy was not performed, and she was returned to her general practitioner for continuation of iron supplementation. Eleven months later (at 24 years of age), she felt a lump in her lower abdomen and was referred to a gastrointestinal surgeon for investigation. He performed a colonoscopy and colectomy, which revealed a caecal cancer that had spread to her lymph glands and liver.

All available oncological treatment and the most comprehensive surgery followed over several years but failed to stop the spread of the cancer. This chapter in my daughter’s life was gut-wrenching for all involved.

Before her diagnosis, my daughter saw several GPs, a gastroenterologist and later a general physician — none of whom recognised that she was suffering from colon cancer. No doubt her anaemia was assumed to be due to menstrual loss and/or low dietary iron intake. Time was wasted in trying to boost her iron intake, without properly considering another plausible explanation.

I am advised that current guidelines for the management of patients with IDA indicate that all patients should be screened for coeliac disease and that, in premenopausal women, colonic investigation should be reserved for those with colonic symptoms, a strong family history or persistent IDA after iron supplementation and correction of potential causes.

In dealing with such a devastating medical condition as bowel cancer, it is critical that the first diagnosis be early and correct. Cancers diagnosed early can have good outcomes.

In this respect, the advice quoted above seems inadequate in two ways.

First, even though the absolute numbers of young people presenting with colon cancer in any year may not be large, unless their cancer is detected early, they are not being afforded proper advice and their symptoms are not being correctly diagnosed.

Second, relying on (known) strong family history must be fraught with dangers. Many patients will not be comprehensively aware of relevant family medical history — the profession may need to rethink whether it is prudent to assume that there is no family history, when the history may just not be known.

Cancers in the right colon often do not present with obvious bleeding or bowel symptoms; however, anaemia is the classic presentation.

I am advised by an expert in the field that experienced gastrointestinal surgeons and physicians are strongly of the view that colon cancer, particularly in the right colon, should be excluded in cases of significant IDA in all age groups.

I believe that the Gastroenterological Society of Australia should review the professional guidelines applicable to their practitioner members in this regard. The guidelines clearly need much greater specificity, and where exceptionally low initial haemoglobin readings apply, both endoscopy and colonoscopy should be performed immediately.