A 5-year-old boy presented with left elbow swelling after falling and hitting his elbow. He has a history of moderate hemophilia A diagnosed at age 1 month. On examination, he has swelling and limited range of motion of the left elbow with bruising on his right palm. Differential diagnoses include hematoma, infection, fracture, or malignancy. Testing showed a factor VIII level of 3.2%, confirming the diagnosis of moderate hemophilia A. Treatment involves factor VIII infusion, RICE, analgesics, and physiotherapy.
A 5-year-old boy presented with left elbow swelling after falling and hitting his elbow. He has a history of moderate hemophilia A diagnosed at age 1 month. On examination, he has swelling and limited range of motion of the left elbow with bruising on his right palm. Differential diagnoses include hematoma, infection, fracture, or malignancy. Testing showed a factor VIII level of 3.2%, confirming the diagnosis of moderate hemophilia A. Treatment involves factor VIII infusion, RICE, analgesics, and physiotherapy.
A 5-year-old boy presented with left elbow swelling after falling and hitting his elbow. He has a history of moderate hemophilia A diagnosed at age 1 month. On examination, he has swelling and limited range of motion of the left elbow with bruising on his right palm. Differential diagnoses include hematoma, infection, fracture, or malignancy. Testing showed a factor VIII level of 3.2%, confirming the diagnosis of moderate hemophilia A. Treatment involves factor VIII infusion, RICE, analgesics, and physiotherapy.
A 5-year-old boy presented with left elbow swelling after falling and hitting his elbow. He has a history of moderate hemophilia A diagnosed at age 1 month. On examination, he has swelling and limited range of motion of the left elbow with bruising on his right palm. Differential diagnoses include hematoma, infection, fracture, or malignancy. Testing showed a factor VIII level of 3.2%, confirming the diagnosis of moderate hemophilia A. Treatment involves factor VIII infusion, RICE, analgesics, and physiotherapy.
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HAEMOPHILIA
BLEEDING DISORDER IN PAEDIATRICS
Anis Arifah Mentor : Dr Lim A is a 5 year old boy, presented to the casualty with chief complaint of left elbow swelling for one day after tripping over stairs and hitting against the floor. His father noted bruises over patients right palm after hitting the floor.
What are the further history that you would like
to elicit from the father? History of current condition Left elbow swelling for 1/7 Mechanism : fall yesterday after tripped over stairs Fall with left elbow and right palm hit on the floor Associated with pain Swelling not increasing in size Bruises over right palm Restricted daily routine activity No other bruises/pain in other parts of body No LOC / vomiting / retrograde amnesia post fall No head swelling or pain No nose bleed or oral cavity bleed No hematuria, hematochezia No history of insect bite No fever Tolerating orally as usual Able to ambulate after fall as usual Active as usual No UTI symptom, PU regularly BO normal No loss of appetite No change of behavior Past medical or surgical history U/L haemophilia A, diagnosed at 1 month old History of frequent admissions for factor VIII transfusion 4 admissions last year. Last admission Jan 2016 Follow up under Pakar 3 Hospital Kulim
Family history No family history of bleeding/ blood disorder Non consanguineous marriage Another sibling, younger brother with Hemophilia A
Immunization - up to date Developmental - up to age Weight : 24 kg on 95th percentile Height : 107cm on 50th percentile Primary survey Airway No secretion, no FB Breathing Effort: no wheezes , no stridor, RR 30, no recession Efficacy: A/E equal, good breath sound Effect: No cyanosis, SpO2 100% RA Circulation HR 90, BP 85/40 CRT <2 sec Good pulse volume Disability Conscious but minimal painful Pupils B/L 3mm reactive No abnormal posture Dxt 5.8mmol/L Exposure No rashes Bruises seen over right palm Temperature : 36.8 0C Secondary survey o/e: alert, conscious and well perfused. He was sitting comfortably with a sling bandage of his left elbow. He looked well nourished. He was not in severe pain.
Local examination Swelling over the left elbow. Loss of bony prominences. On palpation, the joint was slightly warm and mildly tender to touch Presence of moderate effusion in the left elbow joint. Restricted joint movement Flexion and extension were limited Brachial and radial pulse palpable Sensation intact No wrist drop or finger drop Right elbow was normal Noted bruise over the right palm 3X3 ROM normal No other bruising or deformity noted
Systemic CVS : DRNM Lungs : clear, no chest recession, no flaring of alae nasi Abdomen : soft, non tender, no hepatosplenomegaly, no bruises noted Lymph node not palpable What are the differential diagnoses? Differential diagnoses Haemathrosis secondary to haemophilia Septic arthritis Juvenile rheumatoid arthritis Bone or soft tissue malignancy Fracture Leukaemia Blood investigation Full blood count Specific factor assay : - Hb : 13.5 - Factor VIII level 3.2 % - Hct : 38 - TWC : 8 - Platelet : 220
Coagulation Profile - PT : 10 s - APTT : 70 - INR : 1 - PT ratio : 0.94 Specific factor assay : To ascertain the specific factor that is deficient that is causing the bleeding disorder. Results: Factor VIII level: 3.2% Interpretation: A has moderate haemophilia A due to his Factor VIII level is in between 1-5%. Further investigation Hepatitis B surface antigen, anti HBS antibody Hepatitis C antibody HIV serology Renal profile and LFT Diagnosis of carrier status for genetic counselling - Mother of a newly diagnosed son with haemophilia - Female siblings of boys with haemophilia - Daughter of a man with haemophilia Working diagnosis?
Left elbow haemarthroses
due to moderate Hemophilia A Management 1)Factor VIII infusion 480 U BD x 3/7
Dose of factor replacement depends on type and severity
of bleed
Dose of factor calculated using formula
Units of factor VIII : (% rise required) x (weight in kg) x 0.5 Units of factor IX : (% rise required) x (weight in kg) x 1.4 Percentage of factor aimed
Infusion rate Factor VIII given by slow IV push at rate not exceeding 100 units per minute in young children Factor VIII is given every 8-12 hours Factor IX is given every 12-24 hours 2) RICE Rest Ice Compression Elevation
3) Tranexamic acid Reduces breakdown of blood clots and is effective for treating and preventing recurrence of mouth bleeds and epistaxis Contraindicated for treatment of haematuria (form clots in tubules may not recanalize) Dose of tranexamic acid 25mg/kg/dose TDS x 5-7 days 4) Analgesia Rapid pain relief in haemarthrosis once missing factor concentrate is infused Avoid intramuscular injection Do not use aspirin or NSAIDS Analgesic : Syrup paracetamol 360 mg stat and PRN
5) Desmopressin Releases stored Factor VIII and vWF into the circulation. Used in patients with mild haemophilia A not recommended in young children ( < 3 years) due to documented reports of hyponatraemia and seizures. Relatively contraindicated in children with previous seizure disorders. Dose: 0.3 microgram/kg BD, give over 20 minutes Management (cont.) Early physiotherapy Watch out for other bleeding tendency Watch out for worsening of swelling Advice to avoid contact sports Dental care Immunisation Haemophilia Society - Registered with a patient support group - Medic-alert bracelet or chain Approach to bleeding disorders Primary hemostasis - Vasoconstriction - Platelet plug formation
Secondary hemostasis - Activation of clotting cascade - Deposition and stabilization of fibrin
Tertiary hemostasis - Dissolution of fibrin clot - Dependant on plasminogen activator Clinical presentation The symptoms can vary depending on the specific type of bleeding disorder. However, the main signs include: unexplained and easy bruising heavy menstrual bleeding frequent nosebleeds excessive bleeding from small cuts or an injury bleeding into joints PT: Thromboplastin is added to test the extrinsic system. PT is expressed as a ratio (INR) Normal range : 0.9-1.2. It tests for abnormalities in factor I, II, V, VII, X. Prolonged: warfarin, Vit K deficiency, liver disease, DIC
APTT: Kaolin is added to test intrinsic system. Test for abnormalities I, II, V, VIII, IX, X, XI, XII. Normal range 35-45sec. Prolonged: heparin, hemophilia, DIC, liver disease, vWD
Thrombin time : thrombin is added to plasma to convert fibrinogen to fibrin.
Normal range: 10-15 sec. Prolonged: heparin, DIC, dysfibrinogenemia
D-Dimers: fibrin degradation product, released from cross-linked fibrin during
fibrinolysis. This occurs during DIC, presence of DVT or PE. Also increase in inflammation.
Bleeding time tests hemostasis. It is done by making 2 small incisions into the skin of the forearm. Normal time >10min. Rarely done as it is operator dependant. Raised in vWD and platelet disorder Condition Prothrombin time Partial thromboplast Bleeding time Platelet count in time
Vitamin K deficiency Normal or mildly
Prolonged Unaffected Unaffected or warfarin prolonged
enemia Factor V deficiency Prolonged Prolonged Unaffected Unaffected Factor X deficiency as seen in Prolonged Prolonged Unaffected Unaffected amyloid purpura
sthenia Decreased or Bernard-Soulier synd Unaffected Unaffected Prolonged unaffected rome Factor XII deficiency Unaffected Prolonged Unaffected Unaffected C1INH deficiency Unaffected Shortened Unaffected Unaffected Haemophilia A group of blood disorder in which there is a defect in the clotting mechanism
X-linked recessive inheritance, however in 30% there is
no family history as it is a spontaneous new mutation
Types of hemophilia : Hemophilia A : deficiency of factor VIII ( 85% ) Hemophilia B : deficiency of factor IX ( 15% ) Hemophilia C : deficiency of factor XI (not common) Classification and Clinical Manifestation Complications Joint destruction Recurrent haemarthroses eventually destroy joint causing osteoarthritis and deformity
Acquisition of viruses Hep B, Hep C, HIV
Inhibitors Antibodies directed against exogenous FVIII or FIX neutralizing the clotting activity 15-25% in haemophilia A and 1-3% in haemophilia B Usually after 10-20 exposure days. Suspected when there is lack of response to replacement therapy despite high doses. Treatment - bypassing the deficient clotting factor : recombinant activated factor VII (novoseven or rfVIIa) and FEIBA. Treatment Prophylactic to prevent arthropathy and ensure the best quality of life Dosage of prophylaxis is usually 25-35 U/kg of factor VIII concentrate, given every other day or 3 times a week For factor IX, the dosage is 40-60 U/kg, given every 2-3 days. However this form of management is costly and requires central venous access
On demand treatment when clotting factors are inadequate
Replacing the missing factor : Factor VIII concentrates and Factor IX concentrate. FFP and CRYOPRECIPITATE should not be used as there is a high risk of viral transmission. Specific condition and management Intracranial hemorrhage Surgery Iliopsoas bleed Haematuria Haemarthroses Intracranial hemorrhage Give factor replacement before suspected bleed is confirmed by CT scan Aim to increase factor VIII level to 100 For haemophilia B if monoclonal factor IX is used a level of 80% is adequate and if prothrombin complex concentrate (PCC) is used 50% level is recommended Urgent CT scan : if confirm ICH, maintain factor level 80- 100% for 1-7 days and 50% for 8-21 days. Pre treatment factor assay level and inhibitor level before starting treatment and to repeat after 3-5 days of treatment Follow up CT scan after 2/52 Surgery Coag profile, pre factor assay level and inhibitor level, GXM if required Dose 30 min before operation, infuse patient with appropriate factors - Factor VIII 80-100% - Factor IX 70% - PCC 50% Check post transfusion specific factor level 30 min later if necessary or after surgery to ensure correct factor level is achieved. Clotting factor level should be maintained above 50% during the operation and 24 hours after surgery Maintain adequate factor levels - D 1-3 60-80% - D 4-7 40-60% - D 8-14 30-50% Repeat factor assay and check inhibitor level on D3 to ensure adequate levels. Post operatively a minimum of 10-14 days replacement therapy is recommended Iliopsoas bleed Symptoms : pain/discomfort in the lower abdomen/upper thighs Signs : hip flexed, internally rotated, unable to extend Danger : hypovolemia, large volume of blood may be lost in the retroperitoneal space Management : - Factor replacement : 50 U/kg stat, followed by 25 U/kg bd till asymptomatic, then 20 U/kg every other day for 10-14 days. - US/CT scan - Physiotherapy after pain subside - Repeat US to assess progress Haematuria Management : - Bed rest - Hydration (1.5 maintenance) - Monitor for first 24 hours : UFEME and Urine C&S - If bleeding persists for >24 hours, start factor concentrate infusion - Perform US KUB - DO NOT give tranexamic acid because this may cause formation of clots in the tubules which may not recanalize. Haemarthroses Most spontaneous haemarthroses respond to single infusion of factor concentrate. Aim for a level of 30-40%. If swelling or spasm is present, treatment to level of 50% is required and infusion may have to be repeated at 12-24 hours interval until pain subsides. Minor haemarthroses may not require immobilization, elastic bandage or slings and ice may help in pain relief. Severe haemarthroses - splint in position of comfort - rest - early physiotherapy Thank you!
