Primary haemochromatosis: a missed cause of chronic fatigue syndrome?
OBJECTIVE
To determine whether patients previously diagnosed as chronic fatigue syndrome (CFS) actually have primary haemochomatosis (PH).


METHODS
The setting was a Dutch referral centre. Transferrin saturation (TS) was retrospectively evaluated in banked blood samples of 88 patients diagnosed as CFS. Patients with elevated TS values were asked to provide a new overnight fasting blood sample for a second determination of TS and measurement of serum ferritin. The DNA was investigated for mutations in the HFE gene when one of these iron parameters was elevated.


RESULTS
For 19 out of 88 patients with CFS an elevated TS was found. A new blood sample was obtained from 11 of these 19: six had increased TS and two had elevated serum ferritin values. These eight patients were neither C282Y homozygotes nor compound C282Y-H63D heterozygotes. In the eight cases where no new blood samples could be obtained, the TS was > 50% for two of the five men and < 45% for the three female patients.


CONCLUSIONS
In a group of 88 CFS patients we could exclude PH in all but two of them (prevalence 2.3%; 95% confidence interval 0-5.5%). In our population of CFS patients PH is not more common than in a control population of northern European descent (prevalence 0.25-0.50%).
Swinkels
D W
DW
Department of Clinical Chemistry 564, University Medical Centre St Radboud, PO Box 9101, 6500 HB Nijmegen, The Netherlands. D.Swinkels@CKCL.azn.nl
Aalbers
N
N
Elving
L D
LD
Bleijenberg
G
G
Swanink
C M A
CM
van der Meer
J W M
JW
D000328:Adult; D000368:Aged; D015673:Fatigue Syndrome, Chronic / Q000453:epidemiology / Q000209:etiology*; D005260:Female; D005819:Genetic Markers; D006432:Hemochromatosis / Q000150:complications*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D009426:Netherlands / Q000453:epidemiology; D012189:Retrospective Studies; D014168:Transferrin / Q000378:metabolism
D005819:Genetic Markers; C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014168:Transferrin