Disorders of bleeding

Question 1

describe platelet type pattern of bleeding

Answer 1

• Mucosal
• Epistaxis
• Purpura
• Menorrhagia
• GI

Question 2

describe coagulation factor pattern bleeding

Answer 2

• Articular
• Muscle haematoma
• CNS

Question 3

what coagulation factor is missing in haemophilia A and B

Answer 3

factor 8 and 9 respectively

Question 4

what is the inheritance pattern of haemophilia

Answer 4

X-linked recessive

Question 5

What are features of haemophilia

Answer 5

spontaneous haemorrhage in the CNS (IC, cord bleeding), joints (haemarthrosis) and muscles

Abnormal bleeding can occur in other areas:

• Gums
• Gastrointestinal tract
• Urinary tract causing haematuria
• Retroperitoneal space
• Intracranial
• Following procedures

Question 6

What investigations would you perform to diagnose someone with haemophilia

Answer 6

• Bleeding scores
• Coagulation factor assays:
  
  • prolonged APTT
  • normal PT
  • reduced FVIII or FIX
• genetic testing

Question 7

how would you treat someone with haemophilia

Answer 7

intravenous infusion of clotting factors

Question 8

what is a potential complication of treating someone with haemophilia with intravenous infusion of clotting factors

Answer 8

formation of antibodies against the clotting factor resulting in the treatment becoming ineffective. Also development of viral infections:

• FIX
• HBV
• HCV

Question 9

how would you treat a patient with haemophilia suffering an acute episode of bleeding

Answer 9

• Infusions of the affected factor (VIII or IX)
• Desmopressin (DDAVP) to stimulate the release of von Willebrand Factor
• Antifibrinolytics such as tranexamic acid

Question 10

what is the most common inherited bleeding disorder

Answer 10

Von willebrand disease

Question 11

how is vWD inherited

Answer 11

autosomal dominant fashion

Question 12

What type of bleeding does vWD cause

Answer 12

platelet type - remember vWF is involved in the cross linking of platelets

Question 13

what are the 3 types of vWD

Answer 13

There are three types based on the underlying cause and severity:

• Type 1 – reduction in the quantity of vWF (quantitative deficiency)
• Type 2 – qualitative deficiency determined by the site of mutation in (A, B, M, N) relation to vWF function
• Type 3 – causes complete deficiency and is the most severe.

Question 14

how does vWD present

Answer 14

• Bleeding gums with brushing
• Nose bleeds (epistaxis)
• Heavy menstrual bleeding (menorrhagia)
• Heavy bleeding during surgical operations

Question 15

When should you treat someone with vWD and how would you manage them

Answer 15

Von Willebrand disease does not require day to day treatment. Management is required either in response to major bleeding or trauma (to stop bleeding) or in preparation for operations (to prevent bleeding):

• Desmopressin can be used to stimulates the release of VWF
• VWF can be infused
• Factor VIII is often infused along with plasma-derived VWF

Women with VWD that suffer from heavy periods can be managed by a combination of:

• Tranexamic acid
• Mefanamic acid
• Norethisterone
• Combined oral contraceptive pill
• Mirena coil
• Hysterectomy in severe cases

Question 16

define thrombocytopenia and list some causes of this

Answer 16

Thrombocytopenia describes a low platelet count. The normal platelet count is between 150 to 450 x 10⁹/L. There are a long list of causes of a low platelet count. They can be split into problems with production or destruction.

Decreased production

• Sepsis
• B12 or folic acid deficiency
• Liver failure causing reduced thrombopoietin production in the liver
• Leukaemia
• Myelodysplastic syndrome

Increased Destruction/consumption

• Medications (sodium valproate, methotrexate, isotretinoin, antihistamines, proton pump inhibitors)
• Alcohol
• Immune thrombocytopenic purpura
• Thrombotic thrombocytopenic purpura
• Heparin-induced thrombocytopenia
• Haemolytic-uraemic syndrome

Question 17

how might someone with thrombocytopenia present

Answer 17

A mild thrombocytopenia may be asymptomatic and found incidentally on a full blood count. Platelet counts below 50 x 10⁹/L will result in easy or spontaneous bruising and prolonged bleeding times. They may present with nosebleeds, bleeding gums, heavy periods, easy bruising or blood in the urine or stools. Platelet counts below 10 x 10⁹/L are high risk for spontaneous bleeding. Spontaneous intracranial haemorrhage or GI bleeds are particularly concerning. Petechiae, ecchymosis, mucosal bleeding and rare CNS bleeding.

Question 18

what is Immune Thrombocytopenic Purpura (ITP)

Answer 18

Immune Thrombocytopenic Purpura (ITP) is a condition where antibodies are created against platelets. This causes an immune response against platelets, resulting in the destruction of platelets and a low platelet count.

Question 19

how would you manage someone with immune thrombocytopenic purpura

Answer 19

Management options include:

• Prednisolone (steroids)
• IV immunoglobulins
• Rituximab (a monoclonal antibody against B cells)
• Thrombopoietin analogues (Eltrombopag and romiplostim)
• Splenectomy – rarely performed now since the introduction of the thrombopoietin analogues