www.icgp.ie/QRGhaemochromatosis

Haemochromatosis.

http://www.haemochromatosis-ir.com/

0.4% but not all identified.

Auto rec HLA A3

C282 Y and H63D 2 most common genes affected.

More Common in Ireland   1 in 5 heterozygous

Women present later as protected by menses

2’ causes mostly due to due to repeated transfusions/alcohol.

Caused by excessive absorption of iron from GIT.

 

 Presentation.

Fatigue.

Weakness.

Poor sleep

Liver

  • Altered LFTs
  • Hepatitis
  • Cirrhosis
  • carcinoma
  •  

Pancreas

  • DM  “bronzed diabetes”
  •  

Pituitary

  • Gonadal atrophy
  • Erectile dysfunction
  • Less hair

Heart

  • Cardiomyopathy
  • Dysrhytmias

Joints

  • Arthritis -  MCP of 1st and 2nd  fingers

Skin

  • Slate grey

Who should we screen ?

 

Investigations

  • Ferritin can be greatly increased  >1000yg/l
  • Iron high
  • TIBC > 45%
  • Genetic testing.
  • US upper abdomen / Liver biopsy
  • ?MRI
  • Check LFTs
  • Proceed to Genetic testing
  • ??coeliac         


  *ferritin is an acute phase reactant too

Treatment

Venesect –weekly until ferritin 20-100 then maintain every ?3/12. 1unit of blood = ¼g of iron if Hb 10.

Manage complications.Referral?

Screen families.

DEXA for osteoporosis.