Page 263 - Color Atlas Of Pathophysiology (S Silbernagl Et Al, Thieme 2000)

A. Hemochromatoses
Primary 1
hemochromatosis
inherited autosomal Secondary hemochromatoses 2
recessive disease ineffective erythropoiesis, chronic
(Cys-282-Tyr mutation liver diseases, porphyria cutanea tarda,
in 83% of patients) parenteral Fe overloading, etc.

Raised Fe absorption

Hemochromatosis Venesection Hemochromatosis, Wilson’s Disease
Fe content (from 2–6g to >50g!) (0.5g Fe/L of blood)
Treatment
Fe toxicity: lipid peroxidation, DNA damage, collagen formation
3
Joints:
Heart: Vitamine C
Liver: deficiency
Pancreas: Siderosis
Siderosis Skin: Plate 8.6
Siderosis Cardiomyopathy Pseudogout
Fibrosis Incorporation of
Fibrosis melanin and
Cirrhosis hemosiderin Arrhythmia
Testes:
Diabetes mellitus
Carcinoma Pigmentation Heart failure Infertility
B. Wilson’s disease
Gene defect (chromosome 13): 3
Wilson’s disease Biliary
Cu elimination
Cu Ceruloplasmin Cu incorporation in
ceruloplasmin
Cu intake:
2–5mg/d
Protein Free Cu
Cu
absorption:
40–60%
Liver Chronic
Stomach hepatitis
Plasma Cornea
Duodenum
4
1 2 Cirrhosis
Transcuprin Neurological
Cu excretion disorders
ca. 1.2mg/d Hemolysis
Albumin 253
Tissue
Photo: Hollwich F. Taschenatlas der Augenheilkunde. 3rd ed. Stuttgart: Thieme: 1987.
Silbernagl/Lang, Color Atlas of Pathophysiology © 2000 Thieme
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