HistoryThis section has been translated automatically.
DefinitionThis section has been translated automatically.
Autosomal-recessive inherited metabolic disorder with increased iron absorption and consecutive hemosiderin deposition and tissue damage in various organs. The total iron content of the organism is increased from normally 3-5 g to 20-80 g.
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Occurrence/EpidemiologyThis section has been translated automatically.
EtiopathogenesisThis section has been translated automatically.
Classification of the different Hemochromatosis types:
- Type 1 (classical hemochromatosis): Autosomal recessive mutations of the HFE 1 gene (Hereditary familial hemochromatosis gene 1; gene locus: 6p21.3). Prevalence of clinically manifest hemochromatosis in Europe 1:1,000; m:w=10:1 (cause: iron loss via menstruation).
- Type 2 (juvenile haemochromatosis): rare, autosomal recessive mutations of the HFE 2 gene (hereditary familial haemochromatosis gene 2; gene locus: 1q21). Other forms of type 2 are caused by mutations of the hepcidin antimicrobial peptide gene (HAMP gene; gene locus: 19q13). Iron overload before the age of 30. Often heart failure and hypogonadism.
- Type 3: Autosomal recessive mutations of the transferrin receptor-2 gene (TFR 2 gene; gene locus: 7q22).
- Type 4: Autosomal-dominantly inherited mutations of the SLC11A3 gene (solute carrier family 11 A gene; gene locus: 2q32) with consecutive defect of ferroportin.
ManifestationThis section has been translated automatically.
Clinical featuresThis section has been translated automatically.
Iron overlay of <10g is clinically mostly without tangible symptoms (latent stage). Higher tissue iron concentrations (>10g) initially lead to discrete changes and later to manifest haemosiderosis. Clinical manifestations of manifest hemochromatosis in relation to their percentage frequency:
- Cirrhosis of the liver (94%)
- Skin lesions: (82%):
- Smoke grey, blue-brown or bronze-like, spotty or extensive skin discolouration, particularly pronounced on the face, armpits, genital region, also on the lower extremities (see illustration) as well as on light-exposed areas and scars
- Other: diffuse effluvium
- Hepatomegaly (76%)
- Weakness, exhaustion (73%)
- Potency- libido reduction (56%)
- Diabetes mellitus (53%)
- Upper abdomen complaints (50%)
- testicular atrophy (50%)
- Arthralgias (47%)
- cardiomyopathy (35%)
HistologyThis section has been translated automatically.
Histology of the skin: Melanin proliferation in the basal stratum and haemosiderin deposits, especially in the deep corium.
DiagnosisThis section has been translated automatically.
History + Clinic; Laboratory: plasma ferritin ↑ (w=200ug/l; m=>300ug/l); transferrin saturation ↑ (w>45%; m>50%) - Remark: a normal trasferritin saturation largely excludes hemochromatosis. HFE genetic diagnosis (genetic findings can only be assessed in connection with clinical symptoms). Liver biopsy with iron detection (Berlin blue reaction)
Differential diagnosisThis section has been translated automatically.
- Iron overlays in hemolytic anemia, e.g. in myelodysplastic syndrome.
- Alcoholic siderosis.
- Siderosis in the context of chronic liver diseases
Dermatological (DD clinical macro aspect)
TherapyThis section has been translated automatically.
Internally: Low iron diet (avoid white beans, peas, lentils, leeks, soybeans, egg yolks, liver, heart, brewer's yeast).
Bloodletting 1 time per week (with 500 ml of blood an average of 250 mg iron is removed).
- If necessary administration of deferoxamine (e.g. Desferal®), 100 mg deferoxamine binds 8 mg iron.
- Alternative: Deferasirox
Progression/forecastThis section has been translated automatically.
LiteratureThis section has been translated automatically.
- Hanot VC, Chauffard AME (1882) Cirrhosis hypertrophique pigmentaire dans le diabète sucré. Rev Médecine (Paris) 2: 385-403
- Niederau C (2003) Hereditary hemochromatosis. Internist 44: 191-205
- Rihl M et al (2004) Arthropathy of hereditary hemochromatosis. Z Rheumatol 63: 22-29
- Troisier CE (1871) Diabète sucré.Bull Soc Anatomique (Paris) 16: 231
- From Recklinghausen FD (1889) About hemochromatosis. Berliner klin weekday 26: 92
Incoming links (18)Addison's disease; Bronze diabetes; Cardiomyopathy restrictive; Cirrhosis pigmentaire diabétique; Dermatitis-arthritis syndromes; Dyschromia; Hepatocellular carcinoma; Iron storage disease; Lead pigmentation of the oral mucosa; Melanoderma, diffuse; ... Show all
Outgoing links (8)Addison's disease; Effluvium; Ferritin; Hemosiderosis cutis; Ochronosis; Porphyria cutanea tarda; Transferrin; Wilson's disease;
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