Haemochromatosis
Definition
Excess iron storage, which causes multi-organ system dysfunction with total body stores of iron increased to 20-40 g (normal = I g)
Aetiology
Haemochromatosis (previously: Primary haemochromatosis)
Clinical Features
Investigations
Iron Studies --> Screening for individuals with clinical features and/or family history (l/4 chance of sibling having the disease)
NOTE: Ferritin good for iron deficiency, not good for iron load
NOTE: Ferritin: Leaks out from cells in inflammation
Treatment
Prognosis
Normal life expectancy if treated before the development of cirrhosis or diabetes
Source
Toronto Notes 2012
Excess iron storage, which causes multi-organ system dysfunction with total body stores of iron increased to 20-40 g (normal = I g)
Aetiology
Haemochromatosis (previously: Primary haemochromatosis)
- Due to common recessive gene (HFE, 5%); 1/400 patients are homozygotes
- Results in ongoing gut absorption of iron despite adequate iron stores
- Parenteral iron overload (e.g. transfusions)
- 1 bag of blood ~ 400ml; 300mg of Fe
- Chronic haemolytic anemia: thalassemia, pyruvate kinase deficiency
- Excessive iron intake (Red meat, green leafy)
Clinical Features
- Most common sx: Fatigue
- Usually presents with trivial elevation in serum transaminases
- Liver: cirrhosis (30%), HCC (200x increased risk)- most common cause of death (1/3 of patients)
- Pancreas: diabetes, chronic pancreatitis
- Skin: bronze or grey (due to melanin, not iron)
- Heart: dilated cardiomyopathy
- Pituitary: hypogonadotropic hypogonadism (impotence, decreased libido, amenorrhea)
- Joints: arthralgia (any joint but especially MCP joints), chondrocalcinosis
Investigations
Iron Studies --> Screening for individuals with clinical features and/or family history (l/4 chance of sibling having the disease)
- Transferrin saturation (free Fe2+JTIBC) >50%
- Serum ferritin >400 ng/ml
- HFE gene analysis: 90% of idiopathic hemochromatosis have homozygous C282Y gene mutation, some have "minor" gene (H63D) homozygous mutation
- Usually indicated if age >40, elevated ALT/AST, or ferritin >1000
NOTE: Ferritin good for iron deficiency, not good for iron load
NOTE: Ferritin: Leaks out from cells in inflammation
Treatment
- Phlebotomy: weekly or q2wks then lifelong maintenance phlebotomies q2-6months
- Deferoxamine if phlebotomy contraindicated (e.g. cardiomyopathy, anemia)
- Primary haemochromatosis responds well to phlebotomy
- Secondary haemochromatosis usually requires chelation therapy
Prognosis
Normal life expectancy if treated before the development of cirrhosis or diabetes
Source
Toronto Notes 2012