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Dr M is a 71-year-old retired male GP.
At 40 years of age he noted arthritis
affecting his right hand, making writing and using garden tools painful,
and forming a tight fist difficult.
At that time, and subsequently, he
had no systemic, neurological nor
gastrointestinal symptoms. Examination
revealed bony swelling and tenderness of
the second right metacarpophalangeal
joint (knuckle). No abnormality was
detected in other systems. He had
normal haemoglobin concentration,
erythrocyte sedimentation rate, serum
urate and liver function. Rheumatoid
factors were not detected and
urinalysis was normal. A diagnosis of
an inflammatory oligoarthritis was
made and symptomatic treatment
provided. One year later he started to
complain of pain in both his ankles
and hips associated with limitation of
movement, together with progressive
pain and swelling of bilateral knuckles.
After several more years, a diagnosis
of hereditary haemochromatosis was
made, on the basis of a raised serum
ferritin (1398 microg/L; reference range
30-300), serum iron concentration
(40 micromol/L; 12-35) and serum
transferrin saturation (85%; 15-45%), and
characteristic liver biopsy.
A 52-year-old Caucasian man presented
with a 5-year history of bilateral ankle
pain and swelling.
The symptoms from
the right ankle were intrusive enough
to disturb sleep. The patient also
complained of pain affecting the index
and middle metacarpophalangeal joints
of his dominant right hand, and pain
and stiffness in both hips. A diagnosis of
haemochromatosis had been established
from genetic studies after the patient’s
brother had been diagnosed with
the condition. Generalised skeletal
examination revealed multiple joint
A 71-year-old retired, Caucasian man
presented with bilateral ankle pain.2
Symptoms were worse in the right ankle
and had been increasing for 10 years.
He also experienced arthralgia in the
right knee. At the age of 65, he was
diagnosed with haemochromatosis, and
a liver biopsy revealed early cirrhosis.
Four years later, he was diagnosed with
hepatocellular carcinoma that was
treated with a partial liver resection.
A 38-year-old Caucasian man presented
because of increasing lethargy, excessive
sleepiness, and generalised joint pains
over the past year, which he attributed
to the physical work in his new job.
History and examination provided little
to suggest a diagnosis. Subsequent
iron studies showed high values of
serum ferritin (1240 microg/L) and
transferrin saturation (84%). Genetic
testing identified a homozygous
mutation for C282Y. He was referred to a
Haemochromatosis Awareness Week ran
from 11–17 August this year.
Why is there a need for greater awareness
– including by pharmacists? Because
many patients are still diagnosed late
not all joint pain is arthritis
BY PROFESSOR GREGORY PETERSON MPS
in the progression of the condition –
a condition that can typically be easily
diagnosed and well-managed – yet
with life-threatening consequences.
Approximately one in 200 people of
Caucasian background are at risk.
Clinical complications include liver
cirrhosis, cardiomyopathy and diabetes.
Hereditary haemochromatosis is an
autosomal-recessive genetic disorder
characterised by pathologic deposition
of iron in the parenchyma of many
organs as a result of inappropriately
elevated intestinal absorption of
It is the most common genetic
condition and most common cause of
iron overload in Australia, and primarily
occurs in populations of Northern
European descent (prevalence 1:190),
affecting men 10 times as often as
This is most commonly
the result of a C282Y homozygous
mutation in the HFE (the origins of
this name are uncertain, but often
assumed to abbreviate High Fe, iron)
gene product.2–11 More specifically,
the most common form of hereditary
haemochromatosis (about 90% of cases
in Australia7) is associated with the
C282Y homozygous mutation of the HFE
gene (that is, having two copies of the
C282Y amino acid substitution in the
HFE protein) on chromosome.
Up to 40% of men and 13% of women
with this genetic disorder may
develop clinically significant iron
Clinical disease is less
common in females, and this is only
partially explained by increased iron
requirements and blood loss from
pregnancy and menstruation.
surprisingly, regular blood donation
reduces the likelihood of developing
Gregory Peterson MPS, Deputy Dean (Research),
Faculty of Health and Co-Director, Health Services
Innovation Tasmania, School of Medicine, University of
Tasmania and community pharmacist. This article has
been reviewed. Opinions expressed in this column are
not necessarily those of the Pharmaceutical Society,
its Board or staff.
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