Hemochromatosis E83.1

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Bronze Diabetes; Cirrhosis pigmentaire diabétique; Iron storage disease; Siderophilia; Siderosis; Troisier-Hanot-Chauffard Syndrome

History
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Troisier, 1871; Hanot and Chauffard, 1882

Definition
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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.

Occurrence/Epidemiology
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Most common hereditary disease among members of the white race, prevalence (among Caucasians): 1/200-300 inhabitants.

Etiopathogenesis
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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.

Manifestation
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This is particularly true for men at an older age (40-60 years). With the juvenile form (type 2) usually 10th-30th LJ.

Clinical features
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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%)

Histology
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Histology of the skin: Melanin proliferation in the basal stratum and haemosiderin deposits, especially in the deep corium.

Diagnosis
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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 diagnosis
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Internist:

  • 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)

Therapy
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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).

Iron chelators:

  • If necessary administration of deferoxamine (e.g. Desferal®), 100 mg deferoxamine binds 8 mg iron.
  • Alternative: Deferasirox

Progression/forecast
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If left untreated, the disease progresses progressively and leads to death within a few years.

Literature
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  1. Hanot VC, Chauffard AME (1882) Cirrhosis hypertrophique pigmentaire dans le diabète sucré. Rev Médecine (Paris) 2: 385-403
  2. Niederau C (2003) Hereditary hemochromatosis. Internist 44: 191-205
  3. Rihl M et al (2004) Arthropathy of hereditary hemochromatosis. Z Rheumatol 63: 22-29
  4. Troisier CE (1871) Diabète sucré.Bull Soc Anatomique (Paris) 16: 231
  5. From Recklinghausen FD (1889) About hemochromatosis. Berliner klin weekday 26: 92

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

Authors

Last updated on: 29.10.2020