Hereditary Hemochromatosis
This is the first week of your Internship in internal
medicine. While in the Emergency Department a 47-year-old
white male presents with new onset hyperglycemia. The
family history is un-remarkable. A review of systems
identifies weakness and lethargy, abdominal pain, occasional
chest tightness and pigmentation of the skin and mucosa.
You perform a physical examination and identify skin
and mucosal pigmentation, hepatomegaly and splenomegaly,
and loss of body hair. You recall the presentation of
Hereditary Hemochromatosis at the CPC during your Acting
Internship, and make a presumptive diagnosis.
In order to confirm this working diagnosis you go to
OMIM
-On-Line Mendelian Inheritance in Man.
Go to OMIM:
- Search the OMIM database for: Hereditary
Hemochromatosis (HFE)
- Look up clinical synopsis, text, genetic defect
and treatment of HFE gene.
- After reviewing the information in OMIM and looking
at several of the references in PubMed from the reference
section you seek further information about testing.
To ascertain information about genetic testing for
Hereditary Hemochromatosis you choose an on-line resource
(www.genetests.org).
The diagnosis is confirmed by laboratory testing and
the patient asks many questions about the long-term
risks to him, the risks for his siblings and his children,
and what if any therapies are available. You refer this
gentleman to the Clinical Genetics Unit in your facility.
You also provide on-line referral to a support group
for this condition.
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