CAUSES
PHYSICAL
FINDINGS AND SYMPTOMS
|
|
Causes
Hereditary hemochromatosis is passed by an
autosomal recessive trait on the genes. Because of its
hereditary nature, as many as 25% of the siblings of hemochromatosis
patients will also develop the disorder.
Table
1. Classification
of Iron Overload
|
Types
of Iron Overload
|
Cause |
| 1.
Primary Iron Overload
|
|
|
a)
HFE gene mutation-
associated
hemochromatosis
(hereditary hemochromatosis)
|
C282Y
homozygotes |
|
C282Y
simple heterozygotes |
|
H63D
homozygotes |
|
Compound
heterozygotes |
|
b)
Non-HFE-associated hemochromatosis
|
Autosomal
dominant (South Pacific region) |
|
Sporadic
familial clusters |
|
Nonhereditary
African iron overload |
| Juvenile
hemochromatosis |
|
Atransferrinemia
|
|
Aceruloplasminemia |
|
Friedreich
ataxia |
|
2.
Secondary iron overload and miscellaneous
causes
|
Ineffective
erythropoiesis |
|
Chronic
anemias (thalassemia major, sideroblastic anemia)
|
|
Multiple
transfusions |
|
Primary
liver diseases |
|
Porphyria
cutanea tarda |
|
Iatrogenic
(parenteral or oral) |
|
Chronic
hemodialysis |
Physical Findings and
Symptoms
The symptoms and signs in patients with
symptomatic hemochromatosis are very common in the family practice
setting. Common symptoms include weakness,
fatigue, arthralgias and arthritis, intermittent abdominal pain,
loss of libido, and impotence. The most common symptoms
are arthralgias and fatigue.
Physical and laboratory findings include skin
hyperpigmentation, hepatomegaly, evidence of heart failure,
testicular atrophy, elevated liver enzymes, hyperglycemia, low
testosterone levels, and hypothyroidism. The symptoms
usually begin to appear in the third to sixth decade of life.
Symptoms appear, on average, 10 to 15 years earlier in men,
presumably because women lose iron during menstruation and pregnancy
in the reproductive years. The classic triad of skin bronzing,
cirrhosis, and diabetes is found in only a small percentage of
patients at the time of diagnosis.
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