Hemophilia

Demi Ann E. Buenaventura

MD 17th Batch
UPM -SHS
GENERAL OBJECTIVE
• To be able to understand and impart the knowledge acquired in
dealing with patients with this condition, apply the necessary skills to
contribute to the management of these patients.

Specific Objectives:

At the end of the presentation, we will be able to:

•Describe Hemophilia
•Comprehend the probable pathophysiology of the condition
•Discuss the signs and symptoms
•Be familiar with the standard guidelines in diagnosis and
management
•Determine the outcome and prognosis of the condition
•Compare the book discussion and the actual case
CLINICAL RELEVANCE
To the reporter:
This discussion can be an aid in the assessment and prompt
management of similar cases especially in the rural communities
where awareness is very minimal.
To the Co-Clerks:
This can hopefully provide inputs about the assessment and
proper management of Hemophilia in their preparation as
physicians in whichever field they pursue.
To the Family of the Patient:
To be given the opportunity to learn about the disease entity,
the management and prognosis of the disease.
To the Communities:
To provide community awareness that such disorder does
exist. This will give them knowledge on how to identify and deal
with Hemophilia
 Patient history

•Date and Time of Interview

•11/14/2017 10:00 AM
•Source of information (Reliability): Patient and Mother (90%)
•Source of Referral: Baybay City Hospital
GENERAL DATA:
•J.N.
•17 years old
•male
•Jose Abad Santos Street Baybay City, Leyte
•Grade 9 student,
•Filipino
•Roman Catholic.
•He was admitted to Eastern Visayas Regional Medical
Center (EVRMC) for the 2nd time, accompanied by his
mother and sister.

•CHIEF COMPLAINT: Bleeding Gums

HISTORY OF PRESENT ILLNESS:

17 years prior to admission

Easy bruising on the joints and bony prominences

Excessive gum bleeding

He was brought to St. Pauls Hospital

He was diagnosed with hemophilia

HISTORY OF PRESENT ILLNESS:

Referred to UST in Manila for Factor Assay and to Cebu Perpetual Succour Hospital and Chong Hua Hospital
for Factor VIII injection

No follow up consult was done

14 years PTA

accidental head injury associated with excessive bleeding

Referred to Vicente Sotto Medical Memorial Center and Chong Hua

for factor VIII injection

No follow up consult was done

HISTORY OF PRESENT ILLNESS:

3 days PTA

Recurrence of Bleeding Gums associated pallor and weakness

Brought to Baybay City Hospital

Referred here at our center

admitted
A. BIRTH HISTORY

• Delivered term
• via Normal Spontaneous Vaginal Delivery at Baybay District
Hospital
• Labor lasted for 3 hours
• The placenta was delivered after 1 minute.
• The baby cried immediately at birth and the umbilical cord
was clamp using plastic cord clamp and was cut by a
sterilized scissor.
• The patient was given BCG and Hepatitis B vaccine.
• The patient and his mother were discharged after 2 days
without complication.
B. NEONATAL HISTORY

• The first urine and meconium stool were passed out

within 24 hours.
•There was no cyanosis, jaundice and dyspnea noted on the
2nd day of life.
•The birth weight was 2.8kg, however birth length was
unrecalled.
• The umbilicus was cleaned daily with alcohol. T
•here was no erythema, foul smell and bloody / yellowish
discharges.
•Umbilical stump sloughed off 7 days after birth without
complications.
C. MATERNAL HISTORY

•The patient was born to a 31-year-old G3P2 (2-0-0-2)

mother. Prenatal check-ups were initiated at 5 months
AOG, and done monthly during the whole course of
pregnancy.

•During the first trimester (1 months), mother had fever,

cough and colds. She sought consult at a private
physician where she was prescribed with unrecalled
medication allegedly for cough which she takes with
good compliance.
C. MATERNAL HISTORY

•At second trimester (4 months), she was given FeSO4, Folic

Acid and Calcium to be taken daily during the whole course
of pregnancy, with good compliance. There was no other
symptom such as fever, headache and colds. There was no
consultation done. There was no medication taken.

• At third trimester (7 months), the mother negates

having bipedal edema. She negates alcohol intake, illicit
drug use and smoking. She also negates having urinary tract
infection. Fourth dose of Tetanus toxoid immunization was
given.
FEEDING HISTORY:
• Exclusively breastfed from birth up to 6 months per
demand approximately 8 – 10 times during the day and 2 -
3 times at night.

•Beginning seven months, complementary feeding was

introduced in the form of “cereal” (Cerelac) given once a
day at 3 - 5 tablespoons.

•Other complimentary foods were unrecalled by the

mother.
 24 hour diet recall

Meal Schedule Food Amount Calories

Consumed
Breakfast Rice (Steamed) 2 cups 400
Milo (250ml) 1 cup 130
Mixed 1 cup 37
Vegetables 1 92
Egg (Fried)
Lunch Rice (Steamed) 2 cups 400
Fish (Paksiw) 2 slices 300
Snacks Biscuit (plain 1 pack 325
crackers)
Dinner Rice (Steamed) 1 ½ cup 300
Fish (Fried) 1 ½ slices 225
Total 2, 209
• PAST MEDICAL HISTORY

Childhood illnesses:

He has no known history of childhood illnesses which

include Measles, Mumps and Chicken Pox.
• Adult Illnesses

• Medical: No history of hospitalization.

• Non - hypertensive. Non - diabetic. Non - asthmatic.

• Surgical: HPI

• Psychiatric: None

• Allergies: No known allergies to foods and drugs.

 • Immunization Status:
Vaccines Time Given Adverse
Reaction
BCG at birth (with scar at the right None
deltoid)
Hepa B 1,2,3 Given (Unrecalled time) None
DPT 1,2,3 Given (Unrecalled time) Fever
OPV 1,2,3 Given (Unrecalled time) None
Measles Given (Unrecalled time) None
 Growth and Development:
Age GROSS MOTOR FINE MOTOR LANGUAGE PERSONAL SOCIAL
17 years old Hand-eye Can do complex Comprehends Have more interest in
coordination, (use crafts and art complex written and romantic
relationships and
computer, slicing projects verbal instruction
sexuality.
vegetables)
Go through less
conflict with parents.

Show more
independence from
parents.

Have a deeper
capacity for caring
and sharing and for
developing more
intimate
relationships.

Spend less time with

parents and more
time with friends.
FAMILY HISTORY

•Grandparents died of unknown cause

•Mother apparently well
•Father apparently well
•3 siblings apparently well.
•There was family history of hypertension, DM, Asthma and
Twin pregnancy.
•There was no family history of bleeding disorders, cancer,
thyroid disorders and kidney disease.
•There was no history of TB in the family.
• PERSONAL AND SOCIAL HISTORY
• 3rd child in a brood of 4.
• Born and raised in Baybay, Leyte.
• Lving with his mother, father, 2 sisters and 1 brother in a house
made of semi concrete materials with water sealed toilet and a
closed drainage.
• They use LPG for cooking.
• He usually wakes up at 6:00 am and sleeps at 8:00 – 9:00 pm.
• Loves to play computer and videoke.
H.E.A.D.S.S.S
• HOME: He lives with his family. He is the 3rd child of the 4 siblings and
he appears to have good relationship with them.
• EMPLOYMENT AND EDUCATION: He is a grade 9 student in Baybay
City. Helps with the household chores. He has good interpersonal
relationship with friends in their barangay.
• ACTIVITIES: He likes to watch basketball in their barangay and also
watch televisions and play computer at home. He sometimes helps in
doing household chores. He is active in Computer Club and he is also
a choir member at Kids for Christ.
• DRUGS: He negates using tobacco and drinking alcoholic beverages
or illicit drug use.
• SEXUAL ACTIVITIES: He has a girlfriend for 1 year. Not sexually
active.
• SUICIDE: He claims that he was never been depressed nor had any
suicidal thoughts.
REVIEW OF SYSTEMS
ROS
• GENERAL:
• There was no recent weight change and fever.
• With weakness and easy fatigability.

SKIN:
• No rashes, lumps or changes in color noticed.
 ROS
• HEENT: No headache, dizziness or light-headedness.
• No reading glasses were used.
• Has not undergone any eye examination.
• No visual impairment
• No excessive tearing and itchiness.
• Hearing is good.
• No tinnitus and vertigo.
• No earaches, infection and discharges.
• No epistaxis or obstruction on the nose
• With Bleeding gums for 3 days. No dentures. Has not undergone
dental examination.
 ROS
• NECK: No lumps, swelling or stiffness.

• BREAST: No lumps, pain and nipple discharges.

• RESPIRATORY: No cough or dyspnea noted.

• CARDIOVASCULAR: No dyspnea and orthopnea.

• GASTROINTESTINAL: With good appetite. Moves bowel

daily with yellowish brown colored stools. No pain and
bleeding upon defecation. No belching and frequent
passage of flatus.
 ROS
• PERIPHERAL VASCULAR: No varicose veins no redness.

• URINARY: No urgency, hematuria, dysuria and frequency in

urination. No hesitancy, dribbling and suprapubic pain.
Urinates 6-8 times in a day with an average of 1.5 liters of
urine in 24 hours.

• GENITALS: No hernia. No history of STD.

• MUSCULOSKELETAL: No muscle or joint pains.

 ROS
PSYCHIATRIC: No history of nervousness, tension, depression, or
treatment for psychiatric disorder.

HEMATOLOGIC: With History of easy bleeding and bruising. With

history of blood transfusion when he was 7 months old.

ENDOCRINE:
•No known thyroid trouble.
•No temperature intolerance.
•No history or symptoms of polyuria and dysuria.
 PHYSICAL
EXAMINATION
Done on the 14th day of Hospitalization
• PHYSICAL EXAMINATION

• General Survey and Vital Signs:

• J.N. is a young adult male who looks animated.
• He is alert, with good eye contact.
• He is lying in bed and is ectomorphic.

• Vital signs:
• BP 100/60mmhg, left arm, lying,
• HR 89 and regular,
• RR 18,
• Temperature 36.7°C.

• Height is 5′0″, Weight 45kg, BMI – 19.4 (normal)

 P.E.
• Skin, Hair and Nails:

• The patient has fair complexion.

• There was no cyanosis, hematoma and active lesions.
• The nails were pinkish without clubbing.
• The skin was warm with good turgor.
• There was no palpable mass.
P.E.
• HEENT:
• HEAD –
• There was a 2-cm scar on the left parietal area.
• The hair is black with smooth texture and equal distribution.
• The scalp is intact with no surrounding erythema.
• There was no palpable mass, scaling, nits and lice.

• EYES –
• The sclera was white with pinkish palpebral conjunctiva.
• The iris was dark brown and his pupil was 4mm constricting to 2
mm equally round and reactive to light and accommodation.
• There was no lesions and nystagmus.
P.E.
• EARS –
• The auricle were symmetrical.
• There were no lesions, tophi or palpable mass.

• NOSE –
• The septum was at midline.
• The nasal mucosa was pinkish.
• There were no lesions or palpable mass.

• THROAT (or MOUTH) –

• The patient has pinkish lips, with 19 upper and lower teeth. Dental caries
was noted on all the teeth.
• The gum on the 2nd right upper molar area appeared dark red.
• The tongue and uvula were both at midline.
 P.E.
• Neck: The patient’s neck is supple; trachea is at midline,
without suprasternal retractions. There was no bruit noted.
There was no adenopathy.

• Thorax and Lungs:

• Inspection – The chest was symmetric without retractions.
The ribs, clavicle and scapula were prominent. There were
no visible lesions, masses or dilated veins.
• Palpation- There was symmetrical chest expansion.
• Percussion – The lung fields were resonant.
• Auscultation- There was clear breath sound.
P.E.
• Cardiovascular:
• Inspection – There were no precordial bulging, pallor
or cyanosis.
• Palpation- The apical impulse is palpable at 5th left
intercostal space mid clavicular line, 7 cm from the mid
sternal line with a diameter of 1.3 cm. Heaves and
thrills were not noted.
• Auscultation- There is distinct S1 and S2 with regular
rhythm. S1 is louder than S2 at the apex and S2 is
louder than S1 at the base. No murmurs or extra sound
noted.
 P.E.
•Breast: The breast is symmetric. There were no lesions, no
masses and nipple discharge.

•Abdomen:
•Inspection – The abdomen was flat with no rashes, lesions and
dilated veins.
•Percussion- It was tympanic in all 4 quadrants. The liver span
was 6 cm at midclavicular line.
•Palpation – There were no palpable mass. The liver, spleen
and kidneys were not palpable.
•Auscultation – there is normoactive bowel sound 15 per
minute.
P.E.

• Back and Spine: The spine was at midline. There were no

lumps, lesions and palpable mass.

• Genitalia: It was not examined. Tanner Stage 3 as

identified by the patient using a picture.

• Musculoskeletal: No limitations of movements. Muscle

tone is 5/5 all over.
 Salient Features:
• 17 year old, Filipino, Male
• Diagnosed with Hemophilia A on Factor Assay test at 7 months old.
• 3 days PTA, recurrence of excessive gum bleeding amounting to 1L.
• Weakness, easy fatigability and pallor

• Vital Signs:
• BP 100/60mmhg, left arm, lying,
• HR 89 and regular
• RR 18
• Temperature 36.7°C.
• Dental caries was noted on all the teeth.
• The gum on the 2nd right upper molar area appeared dark red.
ASSESSMENT
Hemophilia A
 Differential Diagnosis
Problem: Easy Bruising

Diagnosis Rule in Rule out

Idiopathic The most common symptoms of ITP are: • a rash with small red or
Thrombocytopenic Purpura bruising easily
(ITP) pinpoint-sized petechiae, often on the lower legs purple dots called “
spontaneous nosebleeds
diopathic bleeding from the gums (for example, during
petechiae”
thrombocytopenic purpura dental work) • Nosebleeds
(ITP) is a disorder in which blood in the urine
the blood doesn’t clot blood in the stool
• bleeding from the rectu
normally. This can cause abnormally heavy menstruation m
excessive bruising and prolonged bleeding from cuts
bleeding. An unusually low profuse bleeding during surgery
• blood in the stools
level of platelets, or Some people with ITP have no symptoms. • blood in the urine
“thrombocytes,” in the
blood, causes ITP. ITP is
also called immune
thrombocytopenic purpura
Differential Diagnosis
Problem: Easy Bruising

Diagnosis Rule in Rule out

Leukemia 17y.o anorexia, fever,
Male bone pains,
weakness abdominal
pallor enlargement,
easy bruisability lymphadenopat
hy,
Differential Diagnosis
Problem: Easy Bruising

Diagnosis Rule in Rule out

Factor VIII 17y.o Cannot totally
deficiency Male rule out
History of easy bruising on
the joints and bony
prominences
History of excessive
bleeding
Pallor and Easy Fatigability
Differential Diagnosis

Diagnosis Rule in Rule out

Factor IX 17y.o Cannot totally rule
deficiency Male out
History of easy
bruising on the
joints and bony
prominences
History of excessive
bleeding
Differential Diagnosis

Diagnosis Rule in Rule out

Factor X 17y.o Cannot totally rule
deficiency Male out
History of easy
bruising on the
joints and bony
prominences
History of excessive
bleeding
 Differential Diagnosis

Diagnosis Rule in Rule out

Von Willibrand 17y.o Cannot totally rule
Disease Male out
History of easy
bruising on the joints
and bony
prominences
History of excessive
bleeding
Hospital Management
• Admitted at Pedia Ward with consent

• Diet:
• NPO (Day 1)
• Clear Liquids with Strict AP (Day 2)
• DAT (Day 3 up to present)

• IVF: PNSS 1 L @ 15gtts/min.

• Laboratory Tests:
 Laboratory tests
Exam Nov. 2, 2017 Nov. 3, 2017 Nov. 8, 2017 Nov. 10, 2017 Nov. 11, 2017

Hgb 30 g/L 50 g/L 62 g/L 76 g/L 79 g/L

Hct 0.10 U/L 0.17 U/L 0.20 U/L 0.25 U/L 0.26 U/L
RBC 1.73 x 10^12/L 2.27 x 10^12/L 2.7 x 10^12/L 3.24 x 10^12/L 3.43 x 10^12/L
WBC 16.3 x 10^9/L 13.6 x 10^9/L 6.27 7.1 5.9
Neutrophils 0.87 0.70 0.59 0.64 0.54
Lymphocytes 0.10 0.21 0.32 0.26 0.45
Monocytes 0.03 0.08 0.06 0.08 0.01
Eosinophils 0.00 0.01 0.03 0.02 0.00
Basophils 0.00 0.00 0.00 0.00 0.00
MCV 60 fL 75 fL 73 fL 78 fL 77 fL
MCH 17 pg 22 pg 23 pg 23 pg 23 pg
MCHC 266 g/L 296 g/L 317 g/L 299 g/L 299 g/L
Platelet 411 x 10^9/L 385 x 10^9/L 440 x 10^9/L 421 x 10^9/L 371 x 10^9/L
Blood Type “A” RH (+)
Laboratory tests

Exam Result Reference

(Nov. 2, 2017) Range

PT control 13.0 sec

PT 17.4 sec 11.8 – 15.1
Activity 59 %
INR 1.36
APTT 84.0 sec 25.4 – 38.4
APTT control 27.6 0-0
Laboratory tests
EXAM RESULT UNIT REFERENCE
RANGE
Sodium 137.4 mmol/L 135 – 148

Potassium 4.14 mmol/L 3.5 – 5.3

Chloride 106.3 mmol/L 98 – 107

ALT/SGPT 5 U/L Up to 41

Creatinine 26 Umol/L 64-104

Total Calcium 1.84 Umol/L 2.15 – 2.5

Uric Acid 4.4 Umol/L 208 - 430

 Medications
Drug / Dose Mode of Action Adverse Effects
Ranitidine 30 mg Headache, malaise,
every 8 hours (day 1 The H2 antagonists are competitive dizziness, somnolence,
– day 7) inhibitors of histamine at the parietal
insomnia, vertigo,
cell H2 receptor. They suppress the
normal secretion of acid by parietal reversible mental
cells and the meal-stimulated confusion, agitation,
secretion of acid. They accomplish this mental depression,
by two mechanisms: histamine hallucinations,
released by ECL cells in the stomach is constipation, nausea,
blocked from binding on parietal cell vomiting, abdominal
H2 receptors which stimulate acid
discomfort or pain, rash
secretion, and other substances that
promote acid secretion (such as (urticaria, maculopapular,
gastrin and acetylcholine) have a and/or pruritic), loss of
reduced effect on parietal cells when libido.
the H2 receptors are blocked.
 Medications
Drug / Dose Mode of Action Adverse Effects
Tranexamic Acid Tranexamic acid competitively inhibits Anxiety
350mg every 8 hours activation of plasminogen (via binding to the blurred vision
changes in vision
(day 1 – day 7) kringle domain), thereby reducing conversion
chest pain
of plasminogen to plasmin (fibrinolysin), an confusion
enzyme that degrades fibrin clots, fibrinogen, cough
and other plasma proteins, including the dizziness or lightheadedness
procoagulant factors V and VIII. Tranexamic fainting
acid also directly inhibits plasmin activity, but
higher doses are required than are needed to
reduce plasmin formation.
Ampicillin – Ampicillin binds to 1 or more of the penicillin- fever,
Sulbactam 750mg binding proteins (PBPs), thus inhibiting the sore throat,
headache,
IVTT every 6 hours. final transpeptidation step of peptidoglycan
rash,
synthesis in bacterial cell walls. Sulbactam diarrhea,
inhibits the activity of β-lactamases and body aches,
extends the spectrum of ampicillin to include nausea,
β-lactamase producing organisms. vomiting,

• Factor 8 (failed to secure)

Blood Transfusion

• SRBC 2 unit on Day 3

• Cryoprecipitate 6 units transfused as fast drip on Day 4
• PRBC 1 unit on Day 10 and 14
THANK YOU!