Iron overload
Other namesHaemochromatosis, hemochromatosis, bronze diabetes[1]
Micrograph of a liver biopsy showing iron deposits due to iron overload. Iron stain.
SpecialtyHematology, gastroenterology
SymptomsTiredness, abdominal pain, darkening skin, sexual dysfunction[2]
ComplicationsCirrhosis, liver failure, liver cancer, heart failure, diabetes, arthritis, infections[2][1]
Usual onsetMales > 40, females > 50[2]
TypesPrimary, secondary[1]
CausesPrimary: Hereditary haemochromatosis (HHC)[2]
Secondary: Repeated blood transfusions, excessive dietary intake[2]
Risk factorsLiver diseases, alcoholism[2]
Diagnostic methodBlood tests (high ratio of iron to transferrin), liver biopsy[2]
TreatmentPhlebotomy, chelation therapy, liver transplant[2]
FrequencyHCC 1 in 400 white people[1]

Iron overload, also known as hemochromatosis, is the build up of excessive iron in the body.[1] Symptoms may include tiredness, abdominal pain, darkening skin, and sexual dysfunction.[2] Complications may include cirrhosis, liver failure, liver cancer, heart failure, diabetes, arthritis, and infections.[2][1]

The most common causes are hereditary haemochromatosis (HHC), a genetic disorder, and iron overload from repeated blood transfusions.[2] Rarely it may occur due excessive dietary intake or liver injury during early development (the latter known as neonatal hemochromatosis).[2] Risk factors for more severe disease include other liver diseases and alcoholism.[2] Diagnosis is generally by blood tests, which may be supported by a liver biopsy.[2]

Most cases of iron overload due to HCC are treated with the regular removal of blood by phlebotomy.[2] Initially this may be done twice per week and once levels come down may occur two to three times per year.[2] Those who have iron overload due to other reasons may be treated with chelation therapy.[2] Neonatal hemochromatosis may be treated with exchange transfusions and IVIG.[2] Occasionally a liver transplant is required.[2] Iron supplements and vitamin C should be avoided.[2]

About 1 in 400 white people have HHC and it is the most common autosomal recessive disorder in this group.[1] Onset of symptoms in males is usually after the age of 40 and in females after the age of 50.[2] While males and females are equally likely to carry the mutation, males are 2 to 3 times likely to develop complications.[2][1] Outcomes in HHC are good if the disease is detected early and treated.[1] The symptoms of iron overload were first described by Armand Trousseau in 1865, though it was not until 1889 that von Recklinghausen linked the disease to iron.[3]

References edit

  1. ^ a b c d e f g h i Porter, JL; Rawla, P (January 2020). "Hemochromatosis". PMID 28613612. {{cite journal}}: Cite journal requires |journal= (help)
  2. ^ a b c d e f g h i j k l m n o p q r s t u v "Hemochromatosis". National Institute of Diabetes and Digestive and Kidney Diseases. NIDDK. Archived from the original on 22 March 2021. Retrieved 24 February 2021.
  3. ^ Barton, James C.; Edwards, Corwin Q. (2000). Hemochromatosis: Genetics, Pathophysiology, Diagnosis and Treatment. Cambridge University Press. p. 3. ISBN 978-0-521-59380-9. Archived from the original on 2021-08-28. Retrieved 2021-02-24.