Clinical Cases Flashcards
What is the most likely diagnosis for a 20-month-old boy with a swollen right knee and refusal to walk?
Haemophilia A
The child presented with symptoms indicative of a bleeding disorder, specifically severe haemophilia A.
How do you differentiate between haemophilia A and haemophilia B?
Measure factor VIII and IX levels
APTT and PT may also be measured, but specific factor levels provide the definitive differentiation.
What was the patient’s factor VIII level in the case of severe haemophilia A?
0%
This indicates a complete deficiency of factor VIII.
How is haemophilia A inherited?
X-linked
This means that the gene responsible for haemophilia A is located on the X chromosome.
What is the chance of any further child having haemophilia A if the mother is an obligate carrier?
1 in 4
The inheritance pattern indicates a 25% chance for each child to inherit the disorder.
What is the optimal treatment for severe haemophilia A with a joint bleed?
Recombinant factor VIII
This is the preferred treatment to manage bleeding episodes in haemophilia A.
What is the main complication of treatment of severe haemophilia A with recombinant factor VIII concentrates?
Development of inhibitory antibodies
About 20% of patients may develop these antibodies, complicating treatment.
What are the non-blanching spots on the arms of a 24-year-old female student likely to be?
Petechiae
These are small red or purple spots caused by bleeding under the skin.
Which symptom is the patient unlikely to have given her condition?
Swollen, hot painful leg
The patient presented with petechiae and easy bruising, but not with swelling.
What is the likely cause of the symptoms in the 24-year-old female student?
Thrombocytopenia
A low platelet count leading to spontaneous bruising and petechiae.
Which of the following is not a cause of thrombocytopenia?
Vitamin K deficiency
While other listed conditions can cause thrombocytopenia, Vitamin K deficiency primarily affects coagulation factors.
What platelet count is most likely associated with spontaneous bruising and petechiae formation?
10
This indicates severe thrombocytopenia.
Which underlying illness is not associated with ITP?
Vitamin C deficiency
ITP can be associated with infections like HIV and SLE, but not with Vitamin C deficiency.
What is the most likely cause of excessive bleeding after a colectomy for cancer in a 70-year-old man?
Surgical
The bleeding from a single site indicates it is more likely surgical rather than coagulopathic.
Why was the patient given LMWH for thromboprophylaxis?
Surgery
Surgery is a recognized risk factor for venous thromboembolism.
How does aspirin work in preventing thromboembolism?
It reduces platelet aggregation
Aspirin inhibits COX-1, affecting platelet function.
Which of the following drugs does not inhibit platelet function?
Dabigatran
Dabigatran is an anticoagulant but does not specifically inhibit platelet function.
What is the relative risk of venous thromboembolism for a woman taking the combined oral contraceptive?
Approx. 5x
The absolute risk remains low, but the relative risk significantly increases.
What increases the risk of VTE in combination with COCP?
Factor V Leiden
This genetic mutation significantly raises the risk of thrombosis.
Which of the following patients should be considered for long-term anticoagulation?
60 with an unprovoked DVT
Unprovoked DVT is a key indicator for the need for long-term anticoagulation.
What does DIC stand for?
Disseminated Intravascular Coagulation
It is a serious condition characterized by widespread activation of the coagulation cascade.
Which of the following is not a complication of DIC?
Normal pregnancy
DIC is typically associated with severe conditions, not normal physiological states like pregnancy.
