A male infant was born to a 23-year-old woman at 40 weeks

gestation. Pregnancy was unremarkable. Birth parameters

were birth weight of 2.94 kg, the birth length of 50 cm. The
neonate was monitored in the newborn nursery. Baby
received 1 mg of vitamin K with no feeding issues noted. On
the second day of life, the infant was circumcised (minor
surgery) after which bleeding was noted. Over the next 5
hours, the bleeding worsened with staff having to change 3
soaked pressure dressings. The patient was transferred to the
neonatal intensive care unit, and due to concerns of bleeding
disorder labs were sent for coagulation studies. Results were
significant for an activated partial thromboplastin time of
>200 seconds, PT 11 seconds, BT 3 minutes. Family history
revealed that the patient’s mother was a symptomatic
hemophilia B carrier with a Factor IX level of 16%
Question 1:
1. What are the patients most striking clinical and lab
findings?
Most striking lab findings are his PT and APTT test results.
Bleeding time was also 3 minutes.
And the bleeding could not be stopped even with pressure
dressing.
So by using our knowledge we can assume there could be
clotting factor deficiency in patient as per the family history his
mother is Hemophilia B carrier.
2. What factors should be considered while arriving at a differential
diagnosis
for this patient?
Differential diagnosis could be made by evaluating the factor
levels of this patient and as per clinical condition and family
history.
New born patients with family history are tested for the
disease.
Levels of clotting factor in body,determined after the assay.
2. How is the confirmatory lab test for this patient
performed?
Ans:
Blood Tests:
Blood tests that are used to determine if the blood is clotting
properly are called screening tests. Types of screening tests are
complete blood count (CBC), activated partial thromboplastin
time (APTT) test, prothrombin time (PT) test, and fibrinogen
test.
Clotting factor Tests:
Clotting factor tests, also called factor assays, are needed to
diagnose a bleeding disorder. This blood test is used to identify
the type and severity of hemophilia, which is important to create
the best treatment plan.
4. What are the patients differential diagnosis?
The main symptoms of hemophilia are internal or external bleeding, symptoms which
vary according to the severity of the condition. People with a severe form of the
condition may experience severe, frequent and spontaneous bleeding into their
muscles and joints, while those with a mild form may only experience excess bleeding
in response to trauma or injury.

Either way, the problems this bleeding can cause are similar to those seen in other
diseases and these need to be excluded before a diagnosis of haemophilia can be
confirmed.

Other conditions to take into consideration in a suspected case of hemophilia are

described below.

Von Willebrand disease

The bleeding symptoms seen in von Willebrand disease can be similar to those
observed in mild congenital hemophilia. However, patients with von Willebrand
disease are more likely to have more mucosal bleeding. This condition can be
diagnosed using various tests including checking for von Willebrand factor (VWF)
antigen or VWF multimers.

Platelet Dysfunction
In cases of platelet dysfunction, the bleeding tends to be mucocutaneous rather than
mucoskeletal as is the case in hemophilia. For most platelet disorders, the diagnostic
test of choice is platelet aggregation studies. Platelet agonists such as collagen, ADP,
epinephrine and ristocetin are tested to assess the aggregation of platelets by
determining optical density. Platelet electron microscopy is another option, which can
be used to assess the ultastructure of the platelet.
Deficiency of coagulation factors V, VII, X, XI or
fibrinogen

In other coagulation factor deficiencies, musculoskeletal

bleeding is uncommon. Thrombosis can sometimes occur in
people with a factor VII or fibrinogen deficiency and a
combined deficiency in factor V and VIII may also be mistaken
for hemophilia A. Differential diagnosis is achieved by carrying
out specific coagulation factor assays.
Scurvy
The bleeding that occurs in scurvy is generally mucosal rather
than mucoskeletal and conditions such as sepsis, HIV,
pancreatitis or malnutrition may be present. The diagnosis of
scurvy is based on clinical findings and the presence of vitamin
C deficiency.
Ehlers-Danlos syndrome
In Ehlers-Danlos syndrome, bleeding is mainly mucosal in
origin rather than musculoskeletal. The skin is hyperextensible
and hypermobility syndrome is present. This condition can be
diagnosed based on clinical features, tissue biopsy and genetic
testing.

Fabry Disease
Bleeding is mainly mucosal rather than musculoskeletal and
other conditions that may be present include kidney disease,
heart disease, skin lesions called angiokeratomas, and pain in
the extremities. Diagnosis is based on genetic testing and
clinical findings.
5. What is this patient most likely diagnosis?
Based on patients family history hes most likely to be diagnosed
with factor VIII or factor XI deficiency.

Pharmacotherapy Plan:
FARM notes:
Findings:
The patient is new born with some bleeding disorder and in in
intensive care unit.
The patient was transferred to the neonatal intensive care unit,
and due to concerns of bleeding disorder labs were sent for
coagulation studies. Results were significant for an activated
partial thromboplastin time of >200 seconds, PT 11 seconds, BT
3 minutes. Family history revealed that the patient’s mother was
a symptomatic hemophilia B carrier.
Assessment:
Short term Goals:
The short term goals for this patient is to stop the bleeding and
diagnose the patient for the actual problem.
Long Term Goals:
To prevent further bleeding in patient in future. Reduce the risk
of bleeding in joints and intracranial bleeding as heamophiliac
patients are susceptible to bleeding inside the cranium.
Resolution:
Standard Protocol:
As per the United Kingdom Hemophilia Centre Doctors’
Organization Guideline approved by the British Committee for
Standards in Hematology, the treatment of choice for both
hemophilia A and B are recombinant factor VIII and
recombinant factor IX concentrates, which carry the lowest risk
of transmitting viral infection.
But in this case patient is not yet diagnosed with any of the
haemophilia types so the best treatment choice is fresh frozen
plasma(FFP) where hemophilia is suspected based on a
prolonged activated partial thromboplastin time, In case of low
fibrinogen level. Further more  cryoprecipitate is considered the
best choice as it contains high level of natural clotting factors
extracted from the blood.
In this case:
Cryoprecipitate is considered the best choice.
Monitoring:
Patient is at high risk of bleeding as patient must be monitored
for any kind of surgery and the level of factors are maintained
after the daignosis by using factor concentrate.
In newborns with hemophilia, intracranial hemorrhage is the
most life-threatening complication.The cranial ultrasound
should be undertaken before discharge.