hemophilia pathophysiology.pptx

M4 & S3

Introduction

3. Discuss the etiology, anatomy and physiology of the blood and the coagulation cascade;

4. Trace the pathophysiology of Hemophilia and identify clinical manifestations and risk factors of the said disease; and

5. Identify the medical and nursing management appropriate for the disease.

Hemophilia

is an inherited blood clotting disorder, changes in the Factor VIII and IX gene. These genes provide instruction for coagulation factor. Mutation in the F8 or F9 gene lead to the production of an abnormal amount of coagulation factors or reduce the amount of one of these clotting proteins.

Many famous people that were afflicted with hemophilia such as Alexander , Abraham Lincoln and Queen Victoria (carrier of the disease) (because of these this disease is known as ROYAL DISEASE)

Dr. JOHN CONRAD OTTO ( Philadelphian physician) discovered hemophilia

- He recognized that the condition was hereditary and affected males. And passed down by healthy females.

- He traced disease back through three generation to a women ,in 1720

There are several types of hemophilia. They are classified according to which clotting factor is deficient:

• Hemophilia A, the most common type, is caused by insufficient clotting factor VIII.

• Hemophilia B, the second most common type, is caused by insufficient clotting factor IX.

Objectives

General:

At the end of the case presentation, the participants will be able to acquire the necessary knowledge, skills and attitudes in delivering compassionate and quality nursing care for patients with Hemophilia.

Specific:

At the end of the case presentation, the participants will be able to:

1. Define and familiarize Hemophilia and its types;

2. Know the different drugs and their actions and perform necessary nursing responsibilities for each drug;

Incidence

About 18,000 people in the United States.

Hemophilia A – Represents 80% Hemophilia B – In 4000 to 1 in 5000 males worldwide.

Hemophilia usually occurs in males (with rare exceptions). About 1 in 5,000 males are born with hemophilia each year.

Patient’s Profile

Name: Patient XAge: 4 y/oGender: Male Nationality: PakistaniDate and Time of Admission: 04/08/1435 @ 9:56 PMDate and Time of Discharge: 10/08/1435 @ 6:52 PMChief Complaint: Bleeding from the mouthAdmitting Diagnosis: Hemophilia A Attending Physician: Dr. Ahmed Al Rashdan/ Dra. Rafah

History of Illness

This patient was diagnosed as a known case of Hemophilia. He was diagnosed with this disease since he was 2 years old. It was first detected when the patient had excessive bleeding after a trauma. The patient was frequently admitted in our institution for management of bleeding.

PAST ILLNESS:

10 days prior to admission, the patient was admitted in PICU due to history of foreign body ingestion (battery). Upper GI endoscopy was done for foreign body removal from the esophagus. No upper GI bleeding noted.

The condition started two days ago, when the patient developed bleeding from the mouth (soft palate) after trauma from a lollipop stick. No history of bleeding from any other site noted. Because of that, the patient went to ER for consultation and was received Factor VIII BID for 2 days. However the bleeding did not stop, so they went back to ER again. Routine blood investigations were done.

PRESENT ILLNESS:

In initial CBC showed that Hemoglobin level was only 6.5 (Low Abnormal). After seeing the reports, Dr. Qadeer advised admission to M4. Normal Saline 150 ml was given also from there. From ER, blood requests for 200 ml PRBC transfusion and 150 ml FFP as standby were sent.

Upon admission to M4, the patient was conscious, coherent, not in respiratory distress. However the child looks pale in

color and weak in appearance. Vital signs taken and recorded. IVF and medications started as ordered. Due blood works done and collected. After 2 hours stay in the ward, continuous and active bleeding from the mouth still noted. Because of that, the patient became irritable and mildly in distress. Hence, Dr. Qadeer ordered to shift the patient to PICU for more close and intensive care and monitoring.

During his stay in PICU, the patient received 200 ml PRBC transfusion twice. The patient also received Tranexamic Acid 140 mg I.V every 8 hourly, Factor VII 700 mcg I.V every 2 hours, Factor VIII 700 mg I.V TID and Zantac 13 mg I.V TID as ordered. Routine blood investigations also done from there. Blood levels were closely monitored specially CBC.

The patient was maintained on NPO until there's episode of bleeding noted. The patient stayed in PICU for 3 days, and when the bleeding was controlled and the patient was stable, he was started on liquid to soft diet and was transferred back again to M4. From then, no more bleeding was noted until the patient was discharged.

Family History

Positive family history of hemophilia. His elder brother also has the disease and the their mother is a carrier of the disease.

Developmental Tasks

Erickson’s Psychosocial Theory

Erik Erikson’s developmental theory:

• Erikson is a germen psychologist • He told development consist of the impact of

external factors• According to Erikson’s theory, each person must

pass through a serious of interrelated stage over the entire life cycle

Stage 3: Initiative Vs Guilt

• During this period children show desire to copy the adults around them and take initiative in creating play situation.

• They also starts to use the word “ WHY” in this stage.

• If we may frustrated there natural desires and goals then they experience guilt.

Success in this stage will lead to the virtue of PURPOSE.

Interpretation:The patient passed this stage and achieved INITIATIVE. During his stay in the ward, he was active and was regularly interacting with other patient and health care team specially to nurses.

Physical Assessment

General Condition Conscious and Oriented, Weak looking

ENT With oozing of blood from throat (palate)

CVS S1, S2 are normal, no murmurs noted, tachycardic, palpitations

Chest Clear; bilateral air entry are equal, tachypneic

Abdomen Soft, no abdominal pain noted, no organomegaly, not distended

Skin Pallor noted, No rashes noted, cold clammy skin

Joints Normal, no swelling noted,

Vital Signs

Temperature: 37

Pulse Rate: 156 bpm

Respiratory Rate: 46

BP: 87/48

SPO2: 95%

Head Circumference: 56 cm

Height: 118 cm

Weight: 23 kg

Anatomy and

Physiology

Normally, 7-8% of human body weight is from blood. This essential fluid carries out the critical functions of transporting oxygen and nutrients to our cells and getting rid of carbon dioxide, ammonia, and other waste products. In addition, it plays a vital role in our immune system and in maintaining a relatively constant body temperature.

Red Cells/Erythrocytes

• are relatively large microscopic cells without nuclei• make up 40-50% of the total blood volume• transport oxygen from the lungs to all of the living tissues of the body and carry away carbon dioxide

• Hemoglobin is the gas transporting protein molecule that makes up 95% of a red cell. Each red cell has about 270,000,000 iron-rich hemoglobin molecules.

White cells/ leukocytes

• exist in variable numbers and types but make up a very small part of blood's volume--normally only about 1% in healthy people. • the first responders for our immune system. They seek out, identify, and bind to alien protein on bacteria, viruses, and fungi so that they can be removed.

• They also have the function of getting rid of dead or dying blood cells as well as foreign matter such as dust and asbestos. Platelets/ thrombocytes

• work with blood clotting chemicals at the site of wounds. They do this by adhering to the walls of blood vessels, thereby plugging the rupture in the vascular wall.

• They also can release coagulating chemicals which cause clots to form in the blood that can plug up narrowed blood vessels. Thirteen different blood clotting factors, in addition to platelets, need to interact for clotting to occur

Plasma

• clear, yellow tinted water (92+%), sugar, fat, protein and salt solution which carries the red cells, white cells, and platelets. • normally, 55% of our blood's volume is made up of plasma• it contains blood clotting factors, sugars, lipids, vitamins, minerals, hormones, enzymes, antibodies, and other proteins.

Clotting factorsSubstances in the blood that act in sequence to stop bleeding by forming a clot.• factor I (fibrinogen)• factor II (prothrombin)• factor III (tissue thromboplastin)• factor IV (calcium)• factor V (proaccelerin)• factor VI (no longer considered active in hemostasis)

• factor VII (proconvertin)• factor VIII (antihemophilic factor)• factor IX (plasma thromboplastin component; Christmas factor)• factor X (stuart factor)• factor XI (plasma thromboplastin antecedent)• factor XII (hageman factor)• factor XIII (fibrin stabilizing factor)

Coagulation factor VIII (antihemophilic factor)

is made chiefly by cells in the liver. This protein circulates in the bloodstream in an inactive form, bound to another molecule called von Willebrand factor, until an injury that damages blood vessels occurs. In response to injury, coagulation factor VIII is activated and separates from von Willebrand factor.

The active protein (sometimes written as coagulation factor VIIIa) interacts with another coagulation factor called factor IX. This interaction sets off a chain of additional chemical reactions that form a blood clot.

VIDEO ON HEMOPHILIA

PATHOPHYSIOLOGY OF

HEMOPHILIA

Risk Factors

Predisposing Factors:

•Male

•Mother is carrier of Hemophilia

Ethiological factor: heredity

FLOW CHART PATHOPHYSIOLOGY

Due to etiological factors: Heredity, spontaneous gene mutation

Abnormal X- chromosomes

Mutation of genes in X- chromosomes

Deficiency of factor VIII & IX

Cont.... limited formation of prothrombin activators

Limited thrombin production

Fibrinogen is not converted into fibrin

Limited clots formed

Uncontrollable bleeding Signs of hemophilia

Signs of hemophilia

• General - Weakness and lethargic• Musculoskeletal (joints) – Hemarthrosis,

warmth, pain, stiffness.• CNS - Headache, stiff neck, vomiting,

lethargy, irritability.• GI - Hematemesis, melena, frank red

blood per rectum, and abdominal pain.• Genitourinary - Hematuria, renal colic, and postcircumcision bleeding

Cont...• GI - Hematemesis, melena, frank red

blood per rectum, and abdominal pain.

• Genitourinary - Hematuria, renal colic, and postcircumcision bleeding

• Other - Epistaxis, oral mucosal hemorrhage, hemoptysis, dyspnea, compartment syndrome and contusions

Laboratory Works

A complete blood count (CBC) is a blood test used to evaluate your overall health and detect a wide range of disorders, including anemia, infection and leukemia.

A complete blood count test measures several components and features of your blood, including:

• Red blood cells, which carry oxygen

• White blood cells, which fight infection

• Hemoglobin, the oxygen-carrying protein in red blood cells

• Hematocrit, the proportion of red blood cells to the fluid component, or plasma, in your blood

• Platelets, which help with blood clottingAbnormal increases or decreases in cell counts as revealed in a complete blood count may indicate that you have an underlying medical condition that calls for further evaluation.

NORMAL RANGE

02-06-2014 @1500

03-06-2014 @20:39

08-06-2014@05:48

W.B.C 3.5 - 10 8.68 9.32 8.14

R.B.C 4.5 - 6.5 2.26 LO AB

1.88LO AB

3.02LO AB

HEMOGLOBIN 13 - 18 6.5LO AB

5.28 LO AB

11.3 LO AB

HEMATOCRIT 42 - 52 18.5LO AB

15.3LO AB

28.7LO AB

PLT. COUNT 130- 400 221 183 281

Blood (Serum) Chemistry• Sometimes a specific diagnosis may be

made on the basis of a blood chemistry profile alone. More often than not, however, the profile provides information on a variety of body organs and systems, giving the doctor an indication of where a problem might be located. The profile can be extremely helpful in determining which of the many other diagnostic tests might be beneficial.

NORMAL RANGE

02-06-2014 @1500

03-06-2014 @20:39

08-06-2014@05:48

GLUCOSE FASTING-FBS

4.2 – 6.1 5.1

4 6

CREATININE SERUM

53 – 115 27

LO AB

48

LO AB

39.99

LO ABURIC ACID

SERUM155 – 428 305 314.2

SODIUM SERUM

132 – 145 134

136 136

POTASSIUM SERUM

3.2 – 5.1 3.7 3.2 4

CHLORIDE SERUM

98 – 107 104 105 106

UREA 2.5 – 6.4 8.5

HI AB

3.92 6.61

HI AB

  RESULT UNIT NORMAL RANGE

ESR 17

HI AB

MM/HR 4- 10

ESR stands for erythrocyte sedimentation rate. It is a test that indirectly measures how much inflammation is in the body.

03-06-2014@O2:00

ESR

CRP (C-reactive protein)

is a non-specific test. It is used by a doctor to detect inflammation if there is a high suspicion of tissue injury or infection somewhere in the body, but the test cannot tell where the inflammation is or what condition is causing it. CRP is not diagnostic of any condition, but it can be used together with signs and symptoms and other tests to evaluate an individual for an acute or chronic inflammatory condition.

CRP

03-06-2014@02:00

CRP NEGATIVE

HIV

• The human immunodeficiency virus (HIV) is a lentivirus (a subgroup of retrovirus) that causes the acquired immunodeficiency syndrome (AIDS).

03-06-2014@02:00

 HIV 1, II, &P24 NEGATIVE

OCCULT BLOOD SCREENFecal occult blood testing, as its name implies, aims to detect subtle blood loss in the gastrointestinal tract, anywhere from the mouth to the colon.

06-06-

2014@04:37

08-06-

2014@13:25

POSITIVE NEGATIVE

PTT PROFILE• Prothrombin time (PT) is a blood test that

measures how long it takes blood to clot. A prothrombin time test can be used to check for bleeding problems.

• INR (international normalized ratio) stands for a way of standardizing the results of prothrombin time tests,

• Partial thromboplastin time (PTT) is a blood test that looks at how long it takes for blood to clot. It can help tell if you have bleeding or clotting problems.

02-06-2014@20:05

  RESULT UNIT NORMAL

RANGE

PT-

PROTHROMBIN

TIME

12.2 SEC 11.6- 12.2

INR 1.1   .8- 1.2

PTT TEST 73 HI AB SECS 30.6- 38.2

Factor VIII Level

19-05-2014 @ 13:41

Normal Range Result

Factor VIII Level 70-140 5.1 Low Abnormal

Factor IX Level 70-120 96.7

Drug Study

Generic Name Tranexamic Acid

Brand Name Cyklokapron

Classification Anti-fibrinolytic, antihemorrhagic

Indication Used to stop or reduce bleeding and it works by stopping the clots from breaking down too quickly so it will reduces the excessive bleeding.

Prescribed Dose 140 mg

Route Intravenously

Frequency TID

Adverse Reactions:

• Hypersensitivity• stomach pain and vomiting• Headache• Risk for thrombosis/ having blood clots

Nursing Responsibilities:

• Assess for hypersensitivity reaction and monitor vital signs.• Administer the medication after feeding, or administer H2

antagonists as ordered by the physician.• Provide safety for the patient, always raise the side rails of the

crib at all times.• Observe for unusual occurrence of bleeding and report

immediately to the doctor. • It should be used with extreme caution for the children.

Generic Name Ranitidine

Brand Name Rantag/ Zantac

Classification Histamine H2 antagonists

Indication Treatment and prevention of heartburn, acid indigestion, and sour stomach.

Prescribed Dose 13 mg

Route Intravenously

Frequency TID

Adverse Reactions:

• Hypersensitivity• Constipation, dark stools• Nausea• Dizziness and drowsiness, • Altered taste, gray black tongue

Nursing Responsibilities:

• Assess for hypersensitivity reaction and monitor vital signs.• Advised to increase oral fluid intake and fiber intake which may

minimize constipation.Administer the medications slowly with the burette.

• Provide safety for the patient, always raise the side rails of the crib at all times.

• Inform the mother that medication may temporarily cause tongue to appear gray black.

Generic Name Factor VII

Brand Name NovoSeven

Classification Recombinant Human Coagulation Factor VIIa (rFVIIa)

Indication To promote hemostasis by activating the extrinsic pathway of the coagulation cascade.

Prescribed Dose 700 mcg

Route Intravenously

Frequency Every 2 hours

Adverse Reactions:

• Hypersensitivity• Dizziness and headache• Rashes ( including allergic dermatitis and rash erythematous• Arterial and Venous Thromboembolitic events• Upset stomach, nausea & vomiting

Nursing Responsibilities:

• Assess for hypersensitivity reaction and monitor vital signs.• Provide safety for the patient, always raise the side rails of the

crib at all times. The nurse should also assess pain level with the help of pain scale.

• Observe for rashes and notify to the physician.• Observe for signs of complications and should educate the

mother regarding the complications.• Administer the medication after feeding, or administer with H2

antagonists as ordered by the physician

Generic Name Factor VIII

Brand Name Octonative

Classification Recombinant Human Coagulation Factor VIIa (rFVIIa)

Indication It activates substances in your blood to form clots and decrease bleeding episodes.

Prescribed Dose 700 mcg

Route Intravenously

Frequency TID

Adverse Reactions:

• Hypersensitivity• Dizziness and headache• Rashes ( including allergic dermatitis and rash erythematous• Arterial and Venous Thromboembolitic events• Upset stomach, nausea & vomiting

Nursing Responsibilities:

• Assess for hypersensitivity reaction and monitor vital signs.• Provide safety for the patient, always raise the side rails of the

crib at all times. The nurse should also assess pain level with the help of pain scale.

• Observe for rashes and notify to the physician.• Observe for signs of complications and should educate the

mother regarding the complications.• Administer the medication after feeding, or administer with H2

antagonists as ordered by the physician

Nursing Care Plan

Assessment Nursing Diagnosis

Goal Nursing Interventions

Rationale Evaluation

Subjective Data:The mother verbalized that her son had bleeding from the mouth (soft palate) since 2 days. Objective Data:•Active bleeding noted•Patient is irritable•Pale and weak looking•Hemoglobin level is low abnormal (6.5)•Fatigue•Body Malaise

Ineffective Tissue Perfusion related to active bleeding secondary to Hemophilia

Short Term: After 15-30 minutes of nursing interventions, the patient will not manifest signs and symptoms of respiratory distress and no impairment in consciousness.

Independent:1. Monitored & recorded vital signs accordingly.

2. Assessed the cause of bleeding.

3. Assessed skin color and capillary refill.

>To have a baseline data

>By knowing the cause of bleeding it will assist in determining appropriate interventions for patients

>To provide information about the degree / adequacy of tissue perfusion and assist in determining appropriate intervention.

Short TermAfter 30 minutes of interventions, the patient did not manifest any signs of respiratory distress and there’s no alteration in consciousness. GOAL MET

Assessment Goal Nursing Interventions Rationale Evaluation

• Capillary refill is decreased

• Cold clammy skin

• Pulse Rate: 156 bpm

• Respiratory Rate: 46

• BP- 87/48• SPO2:

95%

Long Term: After 1-3 days of nursing interventions, the patient will not manifest bleeding episodes.

4. Provided adequate rest and comfort measures.

Dependent:1. Started IVF and regulated well as ordered by the physician.

2. Packed RBC 200 ml over 4 hours given twice as ordered by the physician.

3. Due medications given as ordered by the physician.

>To decrease oxygen consumption in the system.

>To maintain fluid and electrolyte.

>To treat hemorrhage and to improve oxygen delivery to the tissues.

>Medications which helps to control and manage bleeding.

Long Term

After 3 days of interventions, bleeding was controlled as evidenced by the patient was stable, active, not in distress. Pale to pinkish in color, latest HB was 11.3.

GOAL MET

Assessment Nursing Diagnosis

Goal Nursing Interventions

Rationale Evaluation

• Patient is irritable

• Pale and weak looking

• Fatigue• Body

Malaise• Patient is 4

y/o only, so he is unaware of his limitations

• Humpy Dumpty Score is 14 (High Risk)

Risk for injury related to imbalance between oxygen supply and demand as evidence by excessive blood loss secondary to Hemophilia

After 30 minutes to 1 hour of nursing interventions, the mother will able to understand the health educations taught to her as manifested by the patient will exhibit no further signs of bleeding; and injury and complications can be avoided.

1. Maintained security of client's crib by maintaining its side rails up at all time. Placed a high risk for fall sign in the crib.

2. Advised the mother to never leave the patient unattended. Instructed to always to keep an eye on every move that allows the occurrence of injury.

Fragile tissue and impaired clotting mechanisms boost the risk of bleeding despite the injury / mild trauma

Early identification and treatment can limit the severity of complications

After 1 hour of health education, the mother verbalized understanding regarding prevention of injury and complications, as manifested by the patient did not developed any bleeding from other sites.

GOAL MET

Assessment Nursing Diagnos

is

Goal Nursing Interventions Rationale Evaluation

3. Emphasized to the mother the importance of using elbow pads, helmets and safety belts and to keep their home free of furniture with sharp corners.

4. Advised the mother to give soft foods to the child and avoid such foods like potato chips, lollipop, hard candies.

5. Educated the mother about first aid for minor cuts. Using pressure and a bandage will generally take care of the bleeding. For small areas of bleeding beneath the skin, use an ice pack. Ice pops can be used to slow down minor bleeding in the mouth.

It may help prevent injuries from falls and other accidents.

To prevent minor injury from the mouth which can result to bleeding afterwards.

Early management can be given at home and to prevent further complications.

Nursing Discharge Plan

M- edications

No take home medication prescribed to the patient upon discharge.

E- xercise

Exercise regularly. Activities such as swimming ,bicycle riding, walking can build up muscles, while protect joints. Contact sports such as, foot ball, hockey or wrestling are not safe for people with hemophilia.

T- reatment

Factor VII and Factor VIII Replacement Therapy

H- ealth Teachings

•AVOID CERTAIN PAIN MEDICATIONS- Drugs that can aggravate bleeding include ASPIRIN and IBUPROFEN. Instead of that use Acetaminophen or Paracetamol which is a safe alternative for mild pain relief.

•PRACTICE GOOD DENTAL HYGIENE- To prevent tooth extraction

• PROTECT CHILD FROM INJURIES THAT COULD CAUSE BLEEDING- Use elbow pads, helmets, safety shoes, all may prevent injuries from falls and other accident. Keep the room free of furniture with sharp corners.

• Keep out of reach or locked away small and sharp objects and other items that could cause bleeding or harm.

• Check play equipment and outdoor play areas for possible hazards.

• Tell all of your child’s health care providers—such as doctor, dentist, and pharmacist—that your child has hemophilia.

O- PD Follow Up•Have regular checkups and vaccinations as recommended.

•Follow your treatment plan exactly as your doctor prescribes.

•Follow up on Pedia Clinic after 2 weeks.

D- ietAdvised soft foods and to give nutritious foods to boost the child’s immune system and to increase intake of Iron rich foods like liver, egg, red meat, green leafy vegetables.