Haemachromatosis - hepatobilliary

Question 1

In which organs does the excess iron deposit?

Answer 1

Poor Losers Portray High JoyS

Pancreas, Liver, Pituitary, Heart, Joints, Skin

Question 2

What is the process of iron deposition in organs?

Answer 2

haemosiderosis

Question 3

What is the process through which iron deposits in organs cause damage?

Answer 3

Question 4

What is the average age of diagnosis of Haemachromatosis for men & women?

Answer 4

Men: 50yrs

Women: 10-20yrs post-menopause (due to menses removing blood)

Question 5

A) Which gene is mutated in primary haemachromatosis?

B) What is the name of the 2 mutations that occur on this gene?

Answer 5

A) HFE i.e. High Fe

B) C282Y, H63D

Question 6

What is the mode of inheritance for hereditary haemochromatosis?

Answer 6

most are autosomal recessive, except for one uncommon mutation which is autosomal dominant

Question 7

What are the key risk factors for haemachromatosis?

Answer 7

• race: caucasian
• male gender
• middle age
• positive FH
• high dietary iron intake

Question 8

What is the epidemiology of haemachromatosis?

Answer 8

• caucasian
  
  • in the US: 1 in 10 whites = heterozygous for HFE mutation (C282Y)
• men > women
  
  • (despite autosomal recessive inheritance)

Question 9

What are the presenting symptoms of haemachromatosis?

Answer 9

• fatigue
• weakness
• lethargy
• arthralgias
• hepatomegaly (advanced disease –> hepatomegaly)
• Diabetes mellitus
• male impotence
• loss of libido
• skin pigmentation

7 Cs

• *C**arbohydrates (diabetes mellitus)
• *C**olor (skin darkening)
• *C**irrhosis
• *C**oitus (e.d. & amenorrhea 2nd to pituitary gland involvement)
• *C**alcium pyrophosphate deposition disease (pseudogout)
• *C**ardiomyopathy (Dilated or restricted cardiomyopathy) –> HF
• *C**onduction defects (of the heart)

Question 10

What are the signs of Haemachromatosis on examination?

Answer 10

• fatigue
• Joints: MCP stiffness/pain
• skin: hyperpigmentation
• Heart: rhythm abnormalities (conduction)
• Oedema (due to HF)
• Liver: Hepatomegaly
• Spleen: Splenomegaly

Question 11

What investigations should be ordered for suspected haemachromatosis?

Answer 11

• serum transferrin saturation
  
  • ​first marker, high before rise in ferritin
• HFE genetic testing​
  
  • definitive diagnosis ​

Question 12

Once haemachromatosis has been diagnosed, what secondary tests must be ordered?

Answer 12

• serum ferritin - cannot be used in isolation as it is an acute phase reactant
  
  • mild <1125 picomols/L [<500 ng/mL],
  • medium 1125-2250 picomols/L [500-1000 ng/mL],
  • severe >2250 picomols/L [>1000 ng/mL]
• Liver: MRI/biopsy ; LFTs (do not actually rise)
• Pancreas: fasting blood glucose
• Heart: ECG, echo
• Gonads: sex hormones
• Bone: Bone densitometry (only when additional RFs)