Haemochromatosis

Question 1

What is haemochromatosis?

Answer 1

Group of disease that lead to iron overload deposition in the body as a result of increased iron absorption

Question 2

What is the cause of primary haemochromatosis?

Answer 2

Mutations in genes involved in regulating GI iron absorption

Question 3

What is the cause of secondary haemochromatosis?

Answer 3

Caused by conditions affecting iron metabolism eg chronic liver disease or excessive iron ingestion or infusion

Question 4

What are the clinical features of haemochromatosis?

Answer 4

75% are asymptomatic

General symptoms - fatigue, lethargy, increased susceptibility to infections

Organ specific symptoms - liver - abdominal pain, hepatomegaly, cirrhosis, increased risk of hepatocellular carcinoma

Pancreas - signs of diabetes mellitus (polydipsia, polyuria)
Skin - hyperpigmentation, bronze skin
Pituitary gland - hypogopnadism, ED, testicular atrophy, loss of libido, amenorrhea (lack of menses)
Joints - arthalgia, chondrocalcinosis
Heart - cardiomyopathy, cardiac siderosis (iron accumulation in the heart), congestive heart failure

Question 5

Which lab tests should be done for haemochromatosis?

Answer 5

Diagnosis of iron overload - ↑ Serum ferritin
≥ 200 ng/mL for premenopausal patients
≥ 300 ng/mL for all other patients
↑ Transferrin saturation (≥ 45%)
↑ Serum iron
↓ Total iron-binding capacity

Question 6

Which other tests are used to diagnose haemochromatosis?

Answer 6

Liver biopsy for concentration and distribution pattern of hepatic iron

MRI abdomen - to estimate hepatic iron concentration

Question 7

What is the treatment for haemochromatosis?

Answer 7

Routine phlebotomies (blood drainage) in a healthy person until iron levels are normal

Iron chelation therapy can be used - Deferoxamine can be used also as it binds to iron in the blood stream and is eliminate via urine or faeces