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Iron overload disorder

Name of Symptom/Sign:
**Iron overload disorder**
*Classifications and external resources*
ICD-10	R79.0
ICD-9	790.6

In medicine, iron overload disorders are diseases caused by the accumulation of iron in the body. Organs commonly affected are the liver, heart and endocrine glands.^[1]

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Causes

The causes can be distinguished between primary (generally genetic) and secondary (due to other conditions).^[2]

Primary iron overload

Description	OMIM	Mutation
Haemochromatosis type 1: "classical"-haemochromatosis	235200	HFE
Haemochromatosis type 2A: juvenile haemochromatosis	602390	hemojuvelin ("HJV", also known as HFE2)
Haemochromatosis type 2B: juvenile haemochromatosis	606464	hepcidin antimicrobial peptide (HAMP) or HFE2B
Haemochromatosis type 3	604720	transferrin receptor-2 (TFR2 or HFE3)
Haemochromatosis type 4	604653	ferroportin (SLC11A3)
Neonatal haemochromatosis	231100	(unknown)
Aceruloplasminaemia (rare disease)	604290	ceruloplasmin
Congenital atransferrinaemia (rare disease)	209300	transferrin

Secondary iron overload

Dietary iron overload
Transfusional iron overload
Long term haemodialysis
Chronic liver disease
- Hepatitis C
- Alcoholic cirrhosis, especially when advanced
- Non-alcoholic steatohepatitis
Porphyria cutanea tarda
Post-portacaval shunting
Dysmetabolic iron overload syndrome

Miscellaneous

The part-genetic, part-environmental syndrome known as African iron overload in sub-Sahara Africa (Online 'Mendelian Inheritance in Man' (OMIM) 601195)

References

^ Andrews NC (1999). "Disorders of iron metabolism". N. Engl. J. Med. 341 (26): 1986-95. PMID 10607817.
^ Pietrangelo A (2003). "Haemochromatosis". Gut 52 Suppl 2: ii23-30. PMID 12651879.

v • d • e Abnormal clinical and laboratory findings (R70-R94, 790-796)
Blood test	red blood cells (Elevated ESR, Anisocytosis, Poikilocytosis, Reticulocytosis) - blood sugar (Abnormal glucose tolerance test, Hyperglycemia) - enzymes (Elevated transaminases, Cardiac marker) - elevated alpha-fetoprotein - mineral (Iron overload disorder) - pathogens (Bacteremia, Viremia) - Azotemia
Urine test	Proteinuria (Albuminuria, Microalbuminuria) - Glycosuria - Chyluria - Myoglobinuria - Bilirubinuria - Hemoglobinuria - Ketonuria - Crystalluria
Other	Abnormal basal metabolic rate