Name: Suchitra Chinthapalli

Theme: Coagulation

OPTION LIST

A	Haemophilia A	I	Henoch – Schönlein Purpura
B	Antiphospholipid antibody syndrome	J	Malignancy
C	Bile acid malabsorption	K	Osler-Weber-Rendu Syndrome
D	B-Thalassaemia	L	Senile purpura
E	Christmas Disease	M	Sickle cell anaemia
F	Disseminated intravascular coagulation	N	Vitamin K Deficiency
G	Ehlers-Danlos syndrome	O	Von Willebrand’s Disease
H	Factor V Leiden	P	Warfarin overdose

For each scenario below, choose the most appropriate answer from the list above. Each option may be used once, more than once or not at all.

1. A 37 year old mother of 4 children, presents to her GP because of recurrent nose bleeds and feeling tired all the time and heavy periods.

2. A 3 year old boy is brought to see his GP by his mother. A fortnight ago he had been brought along because of cold-like symptoms, unsurprising since it was the middle of winter and he attends nursery. He was therefore sent home with some Calpol, and as expected his symptoms soon resolved. However this morning his mother noticed a rash on his bottom, and he said his tummy ached.

3. A 22 year old Saharawi refugee presents with anaemia, weight loss, loose stools and blood tests reveal an increased PT and slightly increased APTT, with normal thrombin time and platelet count.

4. A 5 year old boy has the following blood results: normal PT, increased APTT, normal platelet count, decreased VIII:C and decreased vWF.

5. A 32 week pregnant lady who has gestational diabetes and is epileptic has a caesarean section while on holiday in rural China. Her newborn baby is suffering from bleeding from the umbilical stump, as well as nose and gums. What is wrong with the baby?

ANSWERS

1. K

2. I

3. N

4. O

5. N

1. A rare autosomal dominant disorder. Alternative name = hereditary haemorrhagic telangiectasia. There is a structural abnormality of the blood vessels, resulting in telangiectases, which are thin walled so are likely to bleed. This leads to haemorrhage and anaemia. It is more common in females, and may not present until later in life. Epistaxis is the commonest presenting symptom. This patient is feeling tired, not just because of her 4 children, but because she also has iron deficiency anaemia.
2. Affects children between 2-8yrs old. More common in winter. Usually presents following an upper respiratory tract infection. Rapid onset, with a palpable purpuric rash over the buttocks and legs, as well as symmetrical urticarial plaques, and haemorrhagic bullae. Arthritis of the knee and ankle. Abdominal pain – perhaps due to mesenteric vasculitis. Can have renal involvement – with haematuria/proteinuria. (not idiopathic thrombocytopenic purpura – because it’s not an option here)
3. Prevalence of coeliac disease is highest in Saharawi refugees. This patient has coeliac disease, and as a result of malabsorption is losing weight and has loose stools (steatorrhoea), and vitamin K deficiency. The blood results related to vitamin K deficiency.
4. The most common hereditary bleeding disorder, affect 1% of the population. vWF is a carrier protein for factor VIII and stabilises it. Mutation is in chromosome 12.
5. Drugs, such as anticonvulsants, which the mother is likely to be taking as she suffers from epilepsy, as well as isoniazid, rifampicin and anticoagulants, are risk factors for haemolytic disease of the newborn – which is what this baby has. This is due to vitamin K deficiency – although rare now in the UK as prophylactic vitamin K is given to newborns.

(Explanations are from the Oxford Handbook)