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Outline
Introduction
Normal Iron Absorption
Pathophysiology
Signs and Symptoms
Lab Work-up
Treatment
Journal
Introduction
Hemochromatosis
is a disorder in
iron metabolism
Increase total body iron: from 2.5g
15g
Excess iron absorption, saturation of
iron binding proteins and deposition
of hemosiderin in tissues
Free iron is toxic because of its
ability to form free radicals.
Mostly
Type 2A
Type 2B
Type 3
Type 4
HFE Mutation
Hepcidin
Mutation
Hemojuveli
n Mutation
Transferrin
receptor 2
Mutation
Ferroportin
Mutation
Primary
Hemochromato
sis
Juvenile
Hemochromatosis
Ferrireductase
Converts ferric to ferrous form
DMT1
Transport ferrous into the lumen of enterocytes
Ferritin
Storage form of Iron
Ferroportin
transport Ferritin out of the cell
Hephaestin
Converts ferrous to Ferric form
3-4mg
2500mg
1000mg
1mg/d
1mg/d
Hepcidin: Main
Regulator
Hepcidin Regulation
Pathophysiology
Mutations
Inhibition
of complex formation
decreased surface expression of HFE
Low circulating levels of hepcidin
increases ferroportin expression
Increased intestinal iron absorption
Accumulation of excessive iron
Ferritin is increased increased
hemosiderin production
Summary of Events
pain
Diabetes
Loss of libido
Impotence
Heart failure
Bronze pigmentation of the skin
Lab Work-up
Normal
values:
82% (16 to 35 %)
Serum Ferritin
Treatment
Diet
modification
Phlebotomy
Chelation Therapy (deferoxamine)
Journal
Introduction
Hereditary
hemochromatosis (HH)
METHODS
Literature
search
Analyzed
qualitatively
and
Summarized
into tables
Calculation of
iron absorption
and iron
balance in HH
Results
Iron
absorption studies in HH
patients
Longitudinal
studies
Cross-sectional
studies that
investigated associations
Discussion
Studies
Despite
In