TBA (16S137)

The real impact of fatigue in Haemochromatosis


Dr. Aisling Murphy, Dr. John Lee, Dr. Eoin Slattery


Department of Hepatology, University Hospital Galway


Haemochromatosis is one of the commonest genetically inheritable conditions in Irish people. Fatigue is a common complaint and presenting symptom. Despite this, the level of fatigue experienced by patients with haemochromatosis has never been adequately quantified. Anecdotal experience would suggest that fatigue responds to treatment i.e. venesection.


Our aim was to formally assess the impact of fatigue on patients with Haemochromatosis, by quantifying the severity and where possible identifying contributing factors.


We performed a prospective observation based cohort study on patients with Haemochromatosis. Baseline demographics were obtained along with laboratory assessment of iron storage in patients attending a dedicated haemochromatosis clinic. Patients were asked to fill in a questionnaire regarding levels of fatigue, physical activity and co-existent symptomatology using widely validated scoring systems.


We recruited 169 patients (39% female) attending our outpatient venesection programme and undergoing treatment as per standard protocol, median ferritin values were 83 (range 11-4900). Median Transferrin saturations (TF sats) were 50% (range 11-97%) and median ALT was 22 (range 4-138). The majority of patients complained of fatigue (67.9%). Joint pain was also commonly reported (57.3%). When asked a series of questions to quantify level of fatigue 38.4% of patients had a fatigue severity score >36. Ferritin (r=-0.05), TF Sats (r= -0.22) or level of physical activity (r=0.073) showed no correlation with severity of fatigue. Concomitant pathology associated with haemochromatosis was generally rare in our cohort; Diabetes was reported in 3.4%, Heart disease in 5.4%. Interestingly 22% of responders described anxiety/depression and 34.2% of patients described memory loss/impairment. Activity levels were surprisingly high with only 28.9% of patients reporting low levels according to their IPAQ score.


Fatigue is extraordinarily common in patients with haemochromatosis (over two thirds), even in patients whom have been adequately de-ironed. More surprisingly the severity of fatigue in patients with haemochromatosis was severe in almost 40% comparable to end stage neurological illness such as MS and Parkinsons (i.e. FSS>36). Ferritin or TF sats levels do not appear to correlate with fatigue severity. Alternative aetiologies to fatigue should be considered in these patients; in particular co-existent psychiatric illness/depression.

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