ANGELES UNIVERSITY FOUNDATION

MCARTHUR HIGHWAY, ANGELES CITY

A.Y. 2014 - 2015

CASE ANALYSIS: CHRISTMAS DISEASE

HEMATOLOGY 2 LABORATORY

SUBMITTED BY:
BAUTISTA, JOSEPH RYAN C.
GAMBOA, LOIS DANIELLE L.
GUNDRAN, ANGELIKA JOY
BSMT 3C GROUP 3

SUBMITTED TO:
SIR JESHUA CALEB
NOVEMBER 5, 2015

CASE SUMMARY
Patient : a 33 year old male.

History
Past medical history
HIV
Hepatitis B
Hepatitis C
All resulting from multiple blood product transfusions in the 1990s
Past few years
Intermittent episodes of hemoarthroses in both hips and left wrist (treated with
intermittant recombinant factor IX *3,000 units twice a week) - Hemarthrosis (or
haemarthrosis, plural h(a)emarthroses) is a bleeding into joint spaces. It is a
common feature of Hemophilia
Additional medications included an antiretroviral regimen of nevirapine,
lamivudine and tenofovir
A week earlier
Brief hospitalization for community acquired right- lower lobe pneumonia w/c had
been treated with intravenous ceftriaxone and azithromycin, and subsequently w/
a 10 day course of oral levofloxacin
Family History
Normal coagulation studies
Genetic investigation
XXp-karyotype w/ a deletion of the short arm of one x chromosome (turner
syndrome)

Present
Arterior non radiating chest pain, aggravated with cough, and deep respirations
Chest pain (worse in supine position and improved with leaning forward)
Dyspnea on exertion and orthopnea

Laboratory test
Factor IX content less than normal.

PERTINENT INFORMATION
Overview

Christmas disease
It is also called hemophilia B or factor IX haemophilia. It is a rare genetic disorder
in which your blood does not clot properly. If you have Christmas disease, your body
produces little or no blood-clotting factor IX, which leads to prolonged or spontaneous
bleeding. The less factor IX your body produces, the worse your symptoms are. Without
treatment, Christmas disease can be fatal.
A person is born with Christmas disease, although it may not be diagnosed until
later in life. In about two-thirds of cases, Christmas disease is inherited. The other onethird of cases is caused by spontaneous gene mutations that occur for unknown
reasons during fetal development. The disease is almost always exclusive to males.
How Is Christmas Disease Inherited?
The gene responsible for Christmas disease is carried on the X chromosome.
Females have two X chromosomes and males have one X and one Y chromosome. If a
male inherits the faulty gene on his X chromosome, he could develop Christmas
disease. If a female inherits the faulty gene on one of her X chromosomes, she will be a
carrier for Christmas disease and may pass the defective gene on to her children. All
daughters of a father who has the defective gene will be Christmas disease carriers. A
father does not pass the faulty gene on to his sons. A mother who carries the faulty
gene has a 50 percent chance of having a son with Christmas disease and a 50 percent
chance of having a daughter who is a carrier of the disease.
What Are the Symptoms of Christmas Disease?
Severe cases of Christmas disease are usually diagnosed before the patient is 1
year old. Mild cases may not be diagnosed until a child reaches his or her toddler years
(or sometimes even later). In all cases, diagnosis usually happens after abnormal
bleeding from an injury or surgery.
Events that may lead your doctor to suspect Christmas disease include:

prolonged bleeding during circumcision

prolonged bleeding after surgical procedures or tooth extractions
prolonged bleeding from cuts or other wounds
unexplained, excessive bruising
unexplained, excessive and prolonged nosebleeds

 unexplained blood in the urine or feces caused by internal bleeding in the

gastrointestinal or urinary tract
internal bleeding that pools in the joints, causing pain and swelling
The following symptoms are usually only present in severe cases of Christmas disease:
unexplained bleeding in the skull after childbirth
spontaneous bleeding for no apparent reason

Individuals with hemophilia B do not bleed faster than unaffected individuals, they
bleed longer. This is because they are missing a protein involved in blood clotting and
are unable to effectively stop the flow of blood from a wound, injury or bleeding site.
This is sometimes referred to as prolonged bleeding or a bleeding episode.
Diagnosing Christmas Disease
If you or your child shows symptoms of Christmas disease, a doctor may order
blood tests to confirm the diagnosis, including:
factor IX test to determine how much of the clotting factor is present in your blood
activated partial thromboplastin time (APTT) test to detect how fast your blood
clots
prothrombin time test, another test to detect how quickly your blood clots
fibrinogen test to gauge your bodys ability to create a clot
How Is Christmas Disease Treated?
There is no cure for Christmas disease. There are, however, treatments for the
condition. Regular treatment is essential for managing the symptoms of Christmas
disease.
Factor IX Injections
Christmas disease can be treated with factor IX injections to prevent or stop
bleeding. The factor IX can be derived from donated human blood or made in a
laboratory. Artificial factor IX is called recombinant factor IX and is generally
recommended over blood-derived factor because it is safer. Blood-derived factor IX may
contain dangerous pathogens, such as hepatitis or HIV. However, the risks of
contracting HIV and hepatitis from factor IX treatment is lower than ever due to
improved blood-screening practices.
Wound Treatment
If you have a mild form of Christmas disease, your doctor may give you a product
called desmopressin acetate (DDAVP) to apply to small wounds to stop the bleeding.
Larger wounds and internal bleeding require medical treatment from your doctor.
Preventive Treatment

If you have a severe form of Christmas disease, you may need preventive blood
transfusions to avoid or reduce prolonged and heavy bleeding. If you receive bloodderived factor or blood transfusions, you should be vaccinated for hepatitis B.

GUIDE QUESTIONS
1. What is the probable diagnosis for the case?
Based on the signs and symptoms exhibited by our patient and considering his
medical and family history, we have concluded that he is suffering from Hemohilia B or
otherwise known as Christmas Disease.
2. Explain the pathophysiology of the disease.
Three mechanisms work together to facilitate healing when a blood vessel is
injured. First, the blood vessel constricts to limit the volume of blood that is lost. Second,
circulating platelets form a plug at the site of injury. Finally, the blood undergoes
coagulation. A number of clotting factor proteins, defined by Roman numerals, must be
activated in sequence for coagulation to take place. This process allows the platelet
plug to be stabilized by a fibrin matrix that is formed over its surface, thereby ensuring
that the vessel wall can heal.
Factors VIII and IX are only two of the 13 proteins that are involved in the
cascade process of coagulation. If there is an absence or deficiency of any of these
proteins the coagulation process will be initiated but not completed: the platelet plug will
remain unstable and bleeding will continue over a prolonged period of time.
3. Explain the treatment and management of patient with this disorder.
Community acquired right-lower lobe
pneumonia
Hemoarthroses in both hips and left
wrist
Prevent recurrent hemoarthroses

IV ceftriaxone and azithromycin, 10-day

course of oral levofloxacin
Intermittent recombinant factor IX infusions
Maintenance IV recombinant factor IX
(3000 units twice a week)
Antiretroviral regimen of nevirapine
Lamivudine
Tenofovir

The treatment for Christmas disease or Hemophilia B is a specific concentrate

containing factor 9 to treat hemorrhages. Bleeding is treated with recombinant factor IX
concentrate. The dose is 1 unit factor IX/kg which increases levels by 1.6 %. The
frequency is that it should be injected at 24-hour intervals because the half life for factor
IX is 24 hours.

DIAGNOSIS
Examination in patients with hemophilia B may reveal the following signs of
hemorrhage:
Systemic: Tachycardia, tachypnea, hypotension, and/or orthostasis
Musculoskeletal: Joint tenderness, pain with movement, decreased range of
motion, swelling, effusion, warmth
Neurologic: Abnormal findings, altered mental status, meningismus
Gastrointestinal: Can be painless or present with hepatic/splenic tenderness and
peritoneal signs
Genitourinary: Bladder spasm/distention/pain, costovertebral angle pain
Other: Hematoma leading to location-specific signs (e.g. airway obstruction,
compartment syndrome)

LABORATORY FINDINGS
Laboratory studies for suspected hemophilia B include the following:
Complete blood cell count: Normal or low hemoglobin/hematocrit levels; normal
platelet count
Coagulation studies: Do not delay coagulation correction pending test results;
normal bleeding and prothrombin times; normal or prolonged activated partial
thromboplastin time
Factor IX (FIX) assay: Mild disease, result is over 5%; moderate, 1-5%; severe,
below 1%
von Willebrand factor (vWF) and factor VIII levels: To exclude vWF deficiency as
primary diagnosis (low vWF and low FVIII)
Screening tests for HIV and hepatitis
Genetic carrier and fetal testing

TREATMENT
The treatment for Christmas disease or Hemophilia B is a specific concentrate
containing factor 9 to treat hemorrhages. Bleeding is treated with recombinant factor IX
concentrate. The dose is 1 unit factor IX/kg which increases levels by 1.6 %. The
frequency is that it should be injected at 24-hour intervals because the half life for factor
IX is 24 hours.

MANAGEMENT

 Contact sports and activities where there is a high potential for injury should be
avoided.
Teachers should be informed of their pupils problems.
Care should be taken when giving pain relieving drugs to the patient.
Aspirins and similar drugs which affect platelet function should be avoided.

RELATED JOURNAL

Combined Hemophilia and Christmas disease

1. J. H. ROBERTSON, M.D., M.R.C.P.E., M.C. Path., Haematologist and
2. ROSEMARY G. TRUEMAN, A.I.M.L.T., Technician
SUMMARY
The case is all about combined hemophilia (AHG deficiency) and Christmas disease.
Five other members of the family had either hemophilia or Christmas disease.
The manner of inheritance of the two disorders was uncertain but it was considered
most probable that in the mother of the combined case, coupling of the two genes had
resulted from a cross-over involving the X-chromosome. It is believed that the findings
are consistent with the view that the hemophilia and Christmas disease genes have
quite separate loci on the X-chromosome.

REFERENCES
https://rarediseases.org/rare-diseases/hemophilia-b/
http://www.healthline.com/health/hemophilia-b#Treatments6
http://www.nursingtimes.net/nursing-practice/specialisms/haematology/haemophiliapathophysiology-and-management/205072.article
http://www.msdmanuals.com/professional/hematology-and-oncology/coagulationdisorders/hemophilia
http://medind.nic.in/maa/t12/i4/maat12i4p379.pdf
Lippincott Williams & Wilkins, Pathophysiology: A 2-in-1 Reference for Nurses, pp. 130132
Lippincott Williams & Wilkins, Professional Guide to Pathophysiology, pp. 113-115
Gilbert, The A-Z Reference Book of Syndromes and Inherited Disorders, p. 64

Gwee, et. al, Paediatric Handbook, p. 168

Shaz, et. al, Transfusion Medicine and Hemostasis: Clinical and Laboratory Aspects, p.
705-708