Pathophysiology Case Study Analysis

This pathophysiology assignment analyzes a patient case presenting with symptoms suggestive of hemophilia. The student explores various diagnostic tests, explains the underlying mechanisms of the disease, and delves into the genetic factors contributing to its prevalence in males.

Running head: PATHOPHYSIOLOGY ASSIGNMENT
Pathophysiology assignment
Name of the student:
Name of the university:
Author note:

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Table of Contents
Question 1: 2
Question 2: 2
Question 3: 3
Question 4: 3
References: 6

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Question 1:
Coagulopathy is considered to be a health care complication that is associated with bleeding
disorders where there the coagulation procedure is disrupted due to the malfunctioning
coagulation factors. In simple terms this diseases is considered to be one of the rare health care
concerns where the innate ability of the body to control blood clotting is disrupted. There are
various coagulopathic disorders, each of which disrupts the normal blood clotting mechanism in
the body leading top extreme internal or external bleeding. Considering the present case study
the patient has had prior medical complications with bleeding and has had previous episode of
prolonged external bleeding post circumcision (Berntorp & Shapiro, 2012). Hence the
pathophysiology is more consistent with coagulopathy rather than platelet dysfunction as that
only is caused due to abnormal quantity of platelets in the body.
Question 2:
In support of the pathophysiology decided for the patient, there are several supporting points
from the case study. First and foremost, one of the key symptoms in case of hereditary bleeding
disorders is the presence of deep bruises and swollen and acutely painful joints due to internal
bleeding. As per the subjective data collected from the patient, the patient in the case study has
been suffering with acute pain and swelling in the right elbow. Along with that the right elbow of
the patient had been red in colour, warm and very tender to touch, which can be a direct outcome
of severe internal bleeding, a characteristic features associated with diseases like haemophilia A.
Along with that another key contributing factor that can be included in the discussion is the
hereditary nature of these disorders, which is governed by a recessive gene (Harrison et al.,
2011). As the grandfather of the patient under consideration in the case study has had past

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history of bleeding disorders, the patient is more likely to have inherited the bleeding disorder
from his grandfather. The presence of an additional bruising in the anterior thigh further supports
the diagnosis.
Question 3:
As the patient has severe bruising and swollen and tender elbows, the most plausible
pathophysiology is haemophilia. Haemophilia A is a genetic disorder passed on from generation
to generation by the means of a recessive gene. The main symptoms associated with the disease
are the abundance of massive bruises all over the body and presence of swelling, redness and
acute pain in the joints. As per the subjective data associated with the patient in the case study
can be interpreted as two key symptoms of haemophilia A, swollen joints with redness nad
tenderness and acute pain in the joints, and the second symptom is the presence of bruises.
Depending on these key symptoms and the past history of bleeding disorder in his grandfather,
Haemophilia A is the most suitable diagnosis for the patient (High, 2011).
Question 4:
Haemophilia A, the disorder diagnosed for the patient is primarily a genetic complication that
results in the deficiency of a key blood clotting factor, factor VIII. The deficiency of this factor
causes uncontrolled internal or external bleeding and mostly affects the male population. The
factor VIII is coded by the F8 gene and it is inherited as an X-linked trait, due to which the
disease affects the males in the most cases. One of the key manifestations of haemophilia A is
the muscle or joint haemorrhage due to excessive internal bleeding, which is the most plausible
reasin for the swollen elbow with redness and tenderness in the patient (Nurden, Freson &
Seligsohn, 2012).

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Elaborating more on the mechanism of the disease, the factor VIII is generally activated in
response to any blood vessel damaging injury and detaches from the von Willebrand factor, the
binding protein for clotting factor VIII and then interacts with a second coagulation factor called
factor IX. In case of haemophilia A patients, the interaction never occurs and a key blood
clotting phenomenon fails to take place which results in continued bleeding (Nurden & Nurden,
2011).
a. The PT refers to the prothrombin time and when prolonged it causes delay in the blod
clot formation, caused by vitamin K deficiency. PTT on the other hand is the partial
thromboplastin time which is directly related with the deficiency of factor VIII. This is
why the patient has normal PT and abnormal PTT.
b. This disorder is more common in the males as it an X-linked trait governed by a recessive
gene that affects all males and only homozygous females. The frequency of this disorder
is more common in males than females is due to the fact that the homozygous female
carrying both recessive genes is only possible in cases of a cross between a carrier female
and a haemophilic male, which can be very rare chance event (Stonebraker et al., 2010).
c. The bleeding due to coagulopathy canbe caused by a various reasons, due to coagulation
factor deficiency or deficiency in key coagulation proteins and vitamins. On the other
hand bleeding due to platelet dysfunction is only due to malfunctioning quantity of
platelets.
d. The most plausible cause is the factor VIII deficiency which resulted in the present
condition of the patient (Stonebraker et al., 2010).

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References:
Berntorp, E., & Shapiro, A. D. (2012). Modern haemophilia care. The Lancet, 379(9824), 1447-
1456.
Harrison, P., Mackie, I., Mumford, A., Briggs, C., Liesner, R., Winter, M., & Machin, S. (2011).
Guidelines for the laboratory investigation of heritable disorders of platelet function.
British journal of haematology, 155(1), 30-44.
High, K. A. (2011). Gene therapy for haemophilia: a long and winding road. Journal of
Thrombosis and Haemostasis, 9(s1), 2-11.
Nurden, A. T., Freson, K., & Seligsohn, U. (2012). Inherited platelet disorders. Haemophilia,
18(s4), 154-160.
Nurden, A., & Nurden, P. (2011). Advances in our understanding of the molecular basis of
disorders of platelet function. Journal of Thrombosis and Haemostasis, 9(s1), 76-91.
Stonebraker, J. S., BOLTON‐MAGGS, P. H., Michael Soucie, J., Walker, I., & Brooker, M.
(2010). A study of variations in the reported haemophilia A prevalence around the world.
Haemophilia, 16(1), 20-32.