78. Heriditary Hemichromatosis Flashcards
What is heamochromatosis?
Inherited disorder where increased iron Absorbtion leads to iron deposits in the joints, liver, pancreas and skin.
Who tends to get hereditary heamochromatosis?
Middle aged men (menstrual blood loss is protective) Northern Europeans (Celtic ancestors)
What are the genes responsible hereditary heamochromatosis?
C282Y (90%)
H630 (<5%)
How do patients with hereditary heamochromatosis typically present?
Tiredness, arthralgia (2nd and 3rd MCP joints, knee pseudo gout)
Slate grey pigmentation, chronic liver disease, hepatomegaly, cirrhosis
How do you investigate suspected heamochromatosis?
Bloods: LFT, Ferritin, transferrin sats
Chondrocalcinosis, liver and cardiac MRI, Fe overload
Liver biopsy- Perl’s stain quantifies iron loading
How do you treat hereditary heamochromatosis?
Venesect (0.5-2 litres) Desferrioxamine Monitor LFT’s and glucose levels If cirrhosis screen for HCC Diet: ensure vitamin complexes contain no iron, avoid alcohol
How do you screen for heamochromatosis?
Serum ferritin,
transferrin saturation
HFE genotyping
How is iron absorbed?
Dietary iron FE3+
Reduced by gastric acid and vitamin C
Absorbtion occurs in the duodenum and jejunum
When do you need more iron?
Women
Growing
Pregnancy
Chronic infection
What is alpha-1 antitrypsin deficiency
Inherited disorder causing cirrhosis and emphysema
How do patients with alpha-1 antritrypsin present?
Typically liver problems in childhood
Emphysema in adults
Dyspnoea, cirrhosis, cholestasis jaundice
How do you test for alpha-1 antitrypsin deficiency
Serum levels usually <75% of normal
Genotyping only definite way
Prenatally diagnosed at 11-13 weeks via chronic villus sampling
How do you manage a1at
Smoking cessation
Liver transplant
Lung transplant
