Genetic Conditions

Question 1

What is haemochromatosis

Answer 1

Iron storage disorder that results in excessive total body iron and deposition in tissues.

Question 2

What type of mutation is haemochromatosis

Answer 2

Autosomal recessive

Question 3

Which gene is the majority of cases affected in

Answer 3

Human haemochromatosis protein on chromosome 6

Question 4

Symptoms of haemochromatosis

Answer 4

Chronic tiredness, joint pain, pigmentation, hair loss, erectile dysfunction, amenorrhoea, cognitive symptoms

Question 5

What age does haemochromatosis present

Answer 5

After the age of 40 when the iron overload becomes symptomatic

Question 6

What does haemochromatosis present later in females

Answer 6

Due to menstruation acting to regularly elimate iron from the body

Question 7

Main diagnostic method for haemochromatosis

Answer 7

Serum ferritin level

Question 8

What test is used to differentiate between haemochromatosis and other causes of high ferritin

Answer 8

Transferrin saturation which is high

Question 9

What does a liver biopsy with Perl’s stain show

Answer 9

Used to establish the iron concentration in the parenchymal cells

Question 10

What does an MRI picture show in haemochromatosis

Answer 10

More detailed picture of liver deposits of iron, it can also be used to look at iron deposits in the heart

Question 11

Complications of haemochromatosis

Answer 11

T1DM, liver cirrhosis, iron deposits in pituitary and gonads, cardiomyopathy, hepatocellular carcinoma, hypothyroidism, chondocalcinosis/ pseudogout

Question 12

Management of Haemochromatosis

Answer 12

Venesection, monitoring serum ferritin, avoid alcohol, genetic counselling, monitoring and treatment of complications

Question 13

What is the role of venesection in haemochromatosis

Answer 13

Weekly protcol of removing blood to decrease total iron

Question 14

What is the gene abnormality in alpha 1 antitrypsin deficiency

Answer 14

Protease inhibitor called alpha 1 antitrypsin on chromosome 14

Question 15

What type of genetic condition is alpha 1 antitrypsin deficiency

Answer 15

Autosomal recessive

Question 16

What are the two main organs affected in alpha 1 antitrypsin deficiency

Answer 16

Liver and lungs

Question 17

What age does liver cirrhosis occur in alpha 1 antitrypsin deficiency

Answer 17

after 50 years old

Question 18

What age does emphysema and bronchiectasis occur in alpha 1 antitrypsin deficiency

Answer 18

After 30 years old

Question 19

What happens in the liver in alpha 1 antitrypsin deficiency

Answer 19

The mutant protein gets trapped in the liver and builds up causing liver damage, which progresses to cirrhosis

Question 20

How is alpha 1 antitrypsin deficiency diagnosed

Answer 20

Low serum alpha 1-antitrypsin, liver biopsy, genetic testing and high resolution Ct thorax

Question 21

Management of alpha 1 antitrypsin deficiency

Answer 21

Stop smoking, symptomatic management, Organ transplant, monitoring complications

Question 22

What is Wilson’s disease

Answer 22

Excessive accumulation of copper in the body and tissues

Question 23

What is the genetic inheritance of Wilson’s disease

Answer 23

Autosomal recessive

Question 24

Features of Wilson’s disease

Answer 24

Hepatic problems (40%), neurological problems (50%) and psychiatric problems (10%)

Question 25

How does Wilson’s disease affect the liver

Answer 25

Copper deposition in the liver causes chronic hepatitis and eventually liver cirrhosis.

Question 26

Diagnosis of Wilsons

Answer 26

Serum caeruloplasmin which is low. and liver biopsy, 24 hour urine copper assay

Question 27

Treatment of Wilsons

Answer 27

Copper chelation - penicillamine and trientene