Case Report Hemophilia A

Prepared by: Siti Najihah Ahmad - 090100424

Ain Syafikah Masrom - 090100426

Supervised by: dr. Hj. Tiangsa Sembiring, Sp. A (K)

Introduction
Hemophilia A is a hereditary disorder caused by defective synthesis of functional plasma clotting factor VIII (FVIII) which may be inherited or arise from spontaneous mutation
Global Survey of the World Federation of Hemophilia (2008) 400,000 individuals worlwide have hemophilia

Hemophilia A = 80-85% of total hemophilia population.

The prevalence of hemophilia A varies with the reporting country, with a range of 5.414.5 cases per 100,000 male individuals.

Incidence of hemophilia A is 1 in every 5.000 live male births.

Case Report
CPR, male, 3 year 2 months, came to RSHAM on 14th December 2013 with history of bleeding tongue as the main complaint. The patient has been presenting this symptoms for the past 24 hours and presented to the hospital with continous bleeding from his tongue until a few hours before reached RSUP HAM. The patient had accidentally biting his tongue. This led to profuse bleeding from the dorsal surface of his tongue. No other bruising or active bleeding was noticed except extensive bruising over his left scapular area and the presence of hematomes on the chin and right elbow with active oozing since 3 days ago. There was no nose bleeding, hematuria, bloody stool, accompanying hemoptysis, joint pain or swelling. History of fever and trauma were not found. The patient has been having bleeding especially when he falls down or hit on anything since 1 years old age. There was no history of jaundice. The patients family history is noteworthy consanguineous parents (his uncle) who also experienced bleeding disorder. On physical examination, the patient was fully alert, with normal blood pressure and no sign of fever. The patient was previously outpatient in hematooncology division and diagnosed with hemophilia A. He received the last Koate injection on May 2013.

History of previous illness: Hemophilia A

History of previous medications: Koate injection History of pregnancy: Patient is the fourth children, mother was 30 years old when she got pregnancy. Hypertension (-), Diabetis Mellitus (-)

History of birth:
Normal, assisted by midwives. He cried after birth, birth weight 3000 g, birth height 53 cm, cyanosis (-)

Feeding History : 0-6 months 6-9 months : breastfeeding : breastfeeding + soft food (nasitimhalus) every 3 hours 9 month now : breastfeeding + family food (rice and side food such as fish, chicken and vegetables) thrice per day + snacks thrice per day

Immunization History:
BCG scar (-), no immunizations Social History : Patient was from a middle income family

Physical Examination
Vital Signs Consciousness: was clear Heart Rate:88 x/minute Respiratory Rate: 24x/minute Blood Pressure: 100/60 mmHg Temperature: 36,7oC Anemic (-), Dyspnea(-), Cyanosis(-), Edema(-), Icteric(-)

Nutritional Status
Body weight: 15 kg Body height: 96 cm Weight/height:-2< z score<2 Height/age: -2 < z score<2 Weight/age: -2 < z score<2

General state/Disease state/Nutritional state:

Moderate/Moderate/Good

Localized status

Head: Normal limit Eye: Light reflexes(+/+), isochoric pupil, conjunctiva palpebra inferior anemic(-/-), icteric (-/-). Ear : Normal appereance, Nose: Normal appereance. Mouth: Purpura on tongue Neck: No lymph node enlargement. Hematoma on chin Thorax : Symmetrical fusiformis, no retraction. HR: 88 x/minute, reguler, no murmur and gallop. RR: 24 x/minute regular, no crackles and wheezing Abdomen: Supple. Peristaltic was normal, liver/spleen/renal: not palpable. Hematoma on scapular area Extremities: Pulse 88 bpm, regular, adequate tone and volume, warm acral, CRT<3. Hematoma on right elbow Genital: Male. Normal appearance

Working Diagnosis
Hemophilia A

Differential Diagnosis
Hemophilia A Von-Willebrand Disease Hemophilia B

Management
Koate Injection 375 IU/12 hr/iv for 3 days [Requirement: 15 x 50% x 0.5] = 375 IU Diet MB 1250 kkal with 30 gr protein Packed Red Blood Cells transfusion if needed

Follow up
14th December 2013 S O Hematomes (+), bleeding (-) Sensorium: was clear; Temperature: 36,8oC Head : Normal limit Eyes : Light reflex (+/+), isochoric pupil, conjunctiva palpebra inferior anemic (-/-), icteric (-/-). E/N/T : normal appearance/normal appearance/purpura on tongue Neck : no lymph nodes enlargement. Hematoma on chin Thorax : Symmetrical fusiform, no retraction, heart rate 88 x/minute, regular, no murmur and gallop, respiratory rate 20 x/minute, regular, no rhonchi and wheezing. Abdomen : supple, peristaltic was normal, liver/spleen/renal: not palpable, hematoma on scapular area Extremities : pulse 88 x/minute, regular, adequate tone and volume, warm acral, CRT < 3. Hematoma on right elbow Hemophilia A R/Koate Injection 375 IU/12 hr/iv for 3 days [Requirement : 15 x 50% x 0.5] = 375 IU R/Diet MB 1250 kkal with 30 gr protein

A P

Follow up
15th December 2013 S O Hematomes (+), bleeding (-) Sensorium: was clear; Temperature: 36,8oC Head : Normal limit Eyes : Light reflex (+/+), isochoric pupil, conjunctiva palpebra inferior anemic (-/-), icteric (-/-). E/N/T : normal appearance/normal appearance/purpura on tongue Neck : no lymph nodes enlargement. Hematoma on chin Thorax : Symmetrical fusiform, no retraction, heart rate 86 x/minute, regular, no murmur and gallop, respiratory rate 24 x/minute, regular, no rhonchi and wheezing. Abdomen : supple, peristaltic was normal, liver/spleen/renal: not palpable, hematoma on scapular area Extremities : pulse 86 x/minute, regular, adequate tone and volume, warm acral, CRT < 3. Hematoma on right elbow Hemophilia A - Koate Injection 375 IU/12 hr/iv for 3 days ( day 1) [Requirement : 15 x 50% x 0.5] = 375 IU - Diet MB 1250 kkal with 30 gr protein

A P

Follow up
16th December 2013 S O Hematomes (+), bleeding (-) Sensorium: was clear; Temperature: 37,0oC Head : Normal limit Eyes : Light reflex (+/+), isochoric pupil, conjunctiva palpebra inferior anemic (-/-), icteric (-/-). E/N/T : normal appearance/normal appearance/normal appearance Neck : no lymph nodes enlargement. Thorax : Symmetrical fusiform, no retraction, heart rate 88 x/minute, regular, no murmur and gallop, respiratory rate 20 x/minute, regular, no rhonchi and wheezing. Abdomen : supple, peristaltic was normal, liver/spleen/renal: not palpable, hematoma on scapular area Extremities : pulse 88 x/minute, regular, adequate tone and volume, warm acral, CRT < 3. Hemophilia A - Koate Injection 375 IU/12 hr/iv for 3 days (day 2) [Requirement : 15 x 50% x 0.5] = 375 IU - Diet MB 1250 kkal with 30 gr protein

A P

Laboratory Result, 16th December 2013

Complete blood count(CBC) Normal Value Hemoglobin (HGB) Eritrosit (RBC) Leukosit (WBC) Hematokrit Trombosit (PLT) MCV MCH MCHC RDW MPV PCT PDW WBC Count Neutrofil Limfosit Monosit Eosinofil 37 80 20 40 28 16 39.00 37.60 9.90 12.70 % % % % 11.3-14.1 4.40-4.48 6.0-17.5 37-41 217-497 81-95 25-29 29-31 11.6-14.8 Result Value 6.80 2.83 13.79 22.30 346 78.80 24.00 30.50 18.70 10.00 0.35 10.5 Unit g% 106/ mm3 103/ mm3 % 103/ mm3 fL Pg g% % Fl % Fl

Basofil

01

0.800

Faal Hemostasis Normal Value Result Value

Faktor VIII Faktor IX 55 - 150 70 - 140 5.2 152.0

Unit
% %

Follow up
17th December 2013 S O Hematomes (-), bleeding (-), pale (+) Sensorium: was clear; Temperature: 36,8 oC Head : Normal limit Eyes : Light reflex (+/+), isochoric pupil, conjunctiva palpebra inferior anemic (+/+), icteric (-/-). E/N/T : normal appearance/normal appearance/normal appearance Neck : no lymph nodes enlargement. Thorax : Symmetrical fusiform, no retraction, heart rate 90 x/minute, regular, no murmur and gallop, respiratory rate 20 x/minute, regular, no rhonchi and wheezing. Abdomen : supple, peristaltic was normal, liver/spleen/renal: not palpable, Extremities : pulse 90 x/minute, regular, adequate tone and volume, warm acral, CRT < 3. Hemophilia A - Koate Injection 375 IU/12 hr/iv for 3 days (day 3) [Requirement : 15 x 50% x 0.5] = 375 IU - PRC transfusion (75 cc from total 252 cc) [PRC requirement : 4 x ( 11 6.8 ) x 15 = 252 cc] - Diet MB 1250 kkal with 30 gr protein

A P

Follow up
18th December 2013 S O Hematomes (-), bleeding (-), pale (+) Sensorium: was clear; Temperature: 36,8 oC Head : Normal limit Eyes : Light reflex (+/+), isochoric pupil, conjunctiva palpebra inferior anemic (+/+), icteric (-/-). E/N/T : normal appearance/normal appearance/normal appearance Neck : no lymph nodes enlargement. Thorax : Symmetrical fusiform, no retraction, heart rate 92 x/minute, regular, no murmur and gallop, respiratory rate 24 x/minute, regular, no rhonchi and wheezing. Abdomen : supple, peristaltic was normal, liver/spleen/renal: not palpable, Extremities : pulse 92 x/minute, regular, adequate tone and volume, warm acral, CRT < 3. Hemophilia A - PRC transfusion (75 cc from total 252 cc) [PRC requirement : 4 x ( 11 6.8 ) x 15 = 252 cc] - Diet MB 1250 kkal with 30 gr protein

A P

Follow up
19th December 2013 S O Hematomes (-), bleeding (-), pale (-) Sensorium: was clear; Temperature: 37,0 oC Head : Normal limit Eyes : Light reflex (+/+), isochoric pupil, conjunctiva palpebra inferior anemic (-/-), icteric (-/-). E/N/T : normal appearance/normal appearance/normal appearance Neck : no lymph nodes enlargement. Thorax : Symmetrical fusiform, no retraction, heart rate 96 x/minute, regular, no murmur and gallop, respiratory rate 22 x/minute, regular, no rhonchi and wheezing. Abdomen : supple, peristaltic was normal, liver/spleen/renal: not palpable, Extremities : pulse 96 x/minute, regular, adequate tone and volume, warm acral, CRT < 3. Hemophilia A - PRC transfusion (75 cc from total 252 cc) [PRC requirement : 4 x ( 11 6.8 ) x 15 = 252 cc] - Diet MB 1250 kkal with 30 gr protein

A P

 Patient discharge on 20th December 2013 afternoon

DISCUSSION

Hemophilia A is defined as a hereditary bleeding disorder caused by deficiency of clotting factor VIII.
Hemophilia A is inherited by X-linked recessive and the gene for factor VIII are located at the end of chromosome X arm (q).

The Scientific and Standardization Committee of the International Society of Thrombosis and Haemostasis classification of hemophilia
Severe hemophilia: FVIII < 1% of normal level (<0.01IU/mL) Moderate hemophilia : FVIII 1-5% of normal level (0.01-0.05 IU/mL) Mild hemophilia : FVIII 5% to 40% of normal level (0.05 to 0.40 IU/mL) Hemostasis test : plasma clotting factor (FVIII) level = 5.2% Hemophilia A (FVIII >5.0%).

Theory

Case

Clinical manifestations are usually related to the plasma levels of factor VIII Severe hemophilia usually present in the first 2 years of life with spontaneous bleeding involving joints and muscles, central nervous system, head and neck, and the gastrointestinal tract. May also present with excessive bleeding after minor trauma, postoperatively or after intramuscular childhood vaccinations. Moderate hemophilia usually results in bleeding at time of hemostatic challenge (trauma, surgery of dental extractions) but occasionally spontaneous bleeding occurs. Mild hemophilia is usually restricted to hemostatic challenge and these patients are often not diagnosed until teenage years or adulthood.

The patient presented with extensive and continous bleeding (+) on the dorsal surface of his tongue after accidentally bite his tongue. Previously the patient had history of bleeding especially when he falls down or hit anything since 1 years old of age. There were extensive bruising(+) on left scapular area and the presence of hematomes (+) on chin and right elbow.

Type of bleeding Age of onset Hamarthroses Spontaneous

Factor Level Deficiency Severe (<1%) Moderate (1-5%) Mild (5-40%) <1 years 1-2 years >2 years-adult ++++ ++++ ++++ ++++ ++++ ++++ ++++ ++++ ++ ++ +++ ++ +++ +++ ++ +++ ++ + ++ ++ +

Following minor trauma

Musle hematoma Surgery Dental extraction Trauma to soft tissue Mild Significant Hematuria Central nervous system

Table 1 : Bleeding manifestations with different severities of hemophilia A

Theory

Case

Hemophilia affect males almost exclusively. A hemophiliac carrier woman married with normal man can inherit one or more mophiliac son or one or more carrier daughter. If a hemophiliac man married with normal woman, they could inherit normal son or carrier daughter.

The patient have positive family history that is his uncle from his mothers side who had the same bleeding disorder which suggest the inherited bleeding disorder

Figure 1 : Pedigree of patients family

Man Woman

Patient
Carrier

Theory

Case

Factor VIII deficiency is associated with prolongation of the activated thromboplastin time (aPTT), however it is an insensitive tool to diagnose moderate and mild cases of hemophilia A Confirmation of hemophilia A is accomplished by measuring the levels of factors FVIII The "normal" range of factor VIII in clinical coagulation laboratory is from 54% to 161%, but the median value is about 100% 5%.

This case included in mild hemophilia A where from laboratory study on hemostasis revealed his functional plasma clotting factor (FVIII) level was 5.2%

Factor replacement therapy is the mainstay of hemophilia treatment.

Target levels by hemorrhage severity are as follows:

Mild hemorrhages : Maintain an FVIII level of 30%. Major hemorrhages : Maintain an FVIII level of 50%. Life-threatening bleeding episodes : Maintain an FVIII level of 80-90% . Plasma levels are maintained above 40-50% for a minimum of 7-10 days.

The amount of factor concentrate given will depend on the type of bleed and also on the weight of the child. FVIII 1 IU/kg raises plasma FVIII by 2% so that:
Units of FVIII concentrate required = weight (kg) x desired level (%) x 0.5

In this case, this patient received Koate injection 375 IU every 12 hours for 3 days, Packed Red Blood Cells transfusion and Diet MB 1250 kkal with 30 gr protein. The Koate is given to this patient every 12 hours.