Haemophilia Flashcards
Haemophilia is a rare clotting disorder that is most commonly inherited in an X-linked recessive pattern that leads to increased risk of bleeding. The 2 most common forms of this are Haemophilia A and B. What is the incidence of haemophilia A in the male population?
1 - 1 in 5
2 - 1 in 50
3 - 1 in 500
4 - 1 in 5000
4 - 1 in 5000
Most common out of A and B
Haemophilia is a rare clotting disorder that is most commonly inherited in an X-linked recessive pattern that leads to increased risk of bleeding. The 2 most common forms of this are Haemophilia A and B. What is the incidence of haemophilia B in the male population?
1 - 1 in 30
2 - 1 in 300
3 - 1 in 3000
4 - 1 in 30,000
4 - 1 in 30,000
Haemophilia is a rare clotting disorder that is most commonly inherited in an X-linked recessive pattern that leads to increased risk of bleeding. Does this mean boys or girls are more likely to develop these conditions?
- boys
Girls = an XY chromosome
Boys = an XX chromosome
So even if girls get a mutated X chromosome, they have a second X chromosome, but may still have a mild form of the disease
Boys have only 1 X chromosome, so if they have the mutation, then they have the condition
Which of the following syndromes is haemophilia likely to affect women?
1 - down syndrome
2 - polycystic ovary syndrome
3 - turners syndrome
4 - fragile X syndrome
3 - Turner’s syndrome
This syndrome results in a genetic mutation causing 1 X chromosome to be missing
Causes short stature, heart defects and failure of ovaries to develop
What is haemophilia?
1 - inability to make RBCs
2 - inability to make WBCs
3 - inability for RBCs to clot
4 - RBCs clot too much
3 - inability for RBCs to clot
- most common inherited blood coagulation abnormality
Does haemophilia typically affect the primary or secondary haemostasis?
- secondary
Factors 8 and 9 are part of the intrinsic cascade, which is crucial for stabilising blood clots
Haemophilia A (which is the more common form) and Haemophilia B are the 2 most common inherited blood clotting abnormalities. What factor in the clotting cascade is affected in Haemophilia A?
1 -factor VIII (8)
2 -factor IIa (2a)
2 -factor X (10)
3 -factor IX (9)
1 -factor VIII (8)
- lack of factor VIII (8)
- intron 22 is causative in approximately 50% of patients
Haemophilia A (which is the more common form) and Haemophilia B are the 2 most common inherited blood clotting abnormalities. What factor in the clotting cascade is affected in Haemophilia B?
1 -factor VIII (8)
2 -factor IIa (2a)
2 -factor X (10)
3 -factor IX (9)
3 -factor IX (9)
- lack of factor IX (9)
- intron 22 is causative in approximately 50% of patients
Haemophilia A and B typically present in the same manner. At what age of life do patients with Haemophilia typically present with some form of spontaneous bleeding?
1 - <2 hours
2 - <2 weeks
3 - <2 months
4 - <2 years
3 - <2 years
Nearly always occurs in boys
Haemophilia A and B typically present in the same manner. All of the following are symptoms of Haemophilia, but which is the most common symptom?
1 - spontaneous bleeding into joints and muscle
2 - chronic debilitating joint disease
3 - hematuria
4 - unexpected post-operative bleeding (dental)
5 - bad bruising called muscular haematomas
6 - increases epitaxis
7 - GIT symptoms, melaena or haematemesis
1 - spontaneous bleeding into joints and muscle
Spontaneous bleeding into joints and muscles is often the most common symptom in patients with Haemophilia A and B, causing painful, erythematous, stiff and swollen joints. Which 2 joints are most commonly affected?
1 - wrist and elbows
2 - shoulder and elbows
3 - hips and knees
4 - elbows and knees
4 - elbows and knees
Ankles as well at times
The activated partial thromboplastin time (APTT) is a measurement of the coagulation cascade and can be prolonged in haemophilia. Why is this a good test for someone who has suspected haemophilia?
1 - measures total coagulation time
2 - measures all factors involved in coagulation cascade
3 - measures platelet clotting ability
4 - measures intrinsic pathway
4 - measures intrinsic pathway
APTT is prolonged because blood is not clotting properly
- both factors VIII 8) and IX (9) are part of intrinsic pathway
- Haemophilia A = Factor VIII (8) deficiency
- Haemophilia B =Factor IX (9) deficiency
In a patient with haemophilia, we would use a FBC to help diagnose the patient. Which of the following would be most worrying in a patient with haemophilia?
1 - thrombocytopenia
2 - erythrocytosis
3 - thrombocythemia
4 - leukocytosis
1 - thrombocytopenia
Medical name for low platelets
Low platelets and haemophilia increase the risk of bleeding even more
Which of the following disease would need to be ruled out in haemophilia?
1 - hepatic disease
2 - renal disease
3 - bladder disease
4 - GIT disease
1 - hepatic disease
Liver synthesises factors V, VII, VIII, IX, X, XI, XII, so liver disease means less coagulation cascade factors
Which of the imaging modalities are commonly used to help diagnose patients with haemophilia?
1 - ultrasound
2 - X-ray
3 - CT
4 - MRI
5 - all of the above
5 - all of the above
- Ultrasound = localising site of haemorrhage
- Joint X-ray = localised damage
- CT/MRI: identifying haematomas and haemorrhages such as intracranial bleeding or an iliopsoas haematoma
All of the following should be considered as differentials for haemophilia. But which if the following is most common?
1 - von Willebrand disease
2 - platelet dysfunction disorders
3 - Scurvy
4 - Ehlers-Danlos syndrome
5 - Disseminated intravascular coagulation (DIC)
1 - von Willebrand disease
MUST ALSO RULE OUT NON-ACCIDENTAL INJURY
von Willebrand disease is the most likely differential for haemophilia. Which of these 2 can affect both genders and when present, affects mucus membranes more?
von Willebrand disease
Good way to differentiate
What is the management plan for patients with Haemophilia A and B?
1 - infusion of vitamin K
2 - infusion of factors VIII (8) or IX (9)
3 - infusion with clopidogrel
4 - prescribed anti-platelet medication
2 - infusion of factors VIII (8) or IX (9)
Aim is to keep factor levels above 50% of normal levels
The management plan for patients with Haemophilia A and B is infusion with factors VIII (8) or IX (9) which returns patients coagulation factors to between 50-100% normal. How often is this given to patients?
1 - every day
2 - every 2-3 days
3 - every 3-5 days
4 - every week
2 - every 2-3 days
The management plan for patients with Haemophilia A and B is infusion with factors VIII (8) or IX (9) which returns patients coagulation factors to between 50-100% normal. How are the factors 8 and 9 the produced?
1 - factors are extracted from healthy donors
2 - recombinant DNA is used
3 - animal plasma is used
4 - factors are created based on protein structure
2 - recombinant DNA is used
- human plasma is no longer used due to contamination
The management plan for patients with Haemophilia A and B is infusion with factors VIII (8) or IX (9) which returns patients coagulation factors to between 50-100% normal. Once diagnosed, at what age can these be administered from?
1 - >2 years
2 - >6 years
3 - >10 years
4 - >16 years
1 - >2 years
In patients with a mild form of Haemophilia, what hormone can be given that has been shown to increase levels of factor VIII and VWF levels?
1 - cortisol
2 - growth hormone
3 - anti-diuretic hormone
4 - insulin like growth factor
3 - anti-diuretic hormone
- increases VIII and VWF by up to 30%
- VWF is typically bound to factor VIII
In up to 30% of patients with Haemophilia A (Factor VIII (8) deficiency) recombinant VIII is either not effective or reduces in its effectiveness, meaning higher doses need to be given. Why is this?
1 - body desensitise to it
2 - antibodies are produced against it
3 - innate system attacks it
4 - body produces new factors 8 and 9 so no longer needed
2 - antibodies are produced against it
- alternative factors are given for these patients to bypass factor VIII (8)
- can also be placed on immunosuppressants to target the antibodies
In addition to synthetic factors 8 and 9, what else should patients with haemophilia be advised to do?
1 - Paracetamol and opioids
2 - Rest, ice, compress and elevate for musculocutaneous injuries
3 - Physiotherapist involvement
4 - Antifibrinolytic agents in severe haemorrhage
5 - Lifestyle changes such as avoiding contact sports
6 - All of the above
6 - All of the above
