A case on haemophilia & topics on von willebrand disease
- 1. CASE & TOPIC PRESENTATION DEPARTMENT OF HAEMATOLOGY WARD 37, CMC Dr. Samee M Adnan Resident (Phase A), Neuromedicine
- 2. PARTICULARS OF THE PATIENT Name: Saiful Islam Age-11 years Address: Ukhiya, Cox’s Bazar Occupation: Student Date of admission: 25th August, 2019
- 3. Master Saiful Islam, 11 years of age, normotensive, nondiabetic, known case of haemophilia, hailing from ukhiya, cox’s bazar admitted into haematology ward, CMC, through transfer from neurosurgery ward on 25th August, 2019 with the complaints of: Weakness of both lower limbs & difficulty in walking for last one & half months. Inability to void urine for same duration.
- 4. According to the statement of patient’s attendant he was diagnosed as a case of hemophilia 6 years back & was poorly compliant to treatment. One & a half month back, while playing football on field he sustained an injury on the back. After the incident, he suddenly developed weakness of both lower limbs, which is gradually increasing. For last 1 month he is completely unable to move his legs, is unable to walk even with the help of others & completely bed ridden. For last 1 month, he experiences numbness of both lower limbs equally. There is no complaints regarding his upper limbs.
- 5. He also complains of difficulty in voiding & urinary retention for same duration. With the complaint of retention he was admitted into Cox’s bazar medical college & hospital, where he was catheterized & referred to CMC for further treatment. He was also unable to pass stool. For last 15 days he developed multiple lesions in the oral cavity & lips which has made chewing & swallowing foods difficult.
- 6. On query, there is no history of fever, weight loss, cough, generalized body ache, palpitation & weakness, nodular swelling or heaviness anywhere in body prior to the trauma. There is no history of skin rash, bleeding spots & photosensitivity. He was administered with factor VIII, only a handful of times after initial diagnosis. One of his maternal uncles has hemophilia. None of his other family members has such illness. He belongs to low socioeconomic status. He is immunized as per immunization schedule.
- 8. The patient is ill looking, emaciated, co-operative, bed ridden . There is mild anaemia, multiple oral thrush in the tongue & lips. There is no jaundice, cyanosis, clubbing, koilonychia , leukonychia, oedmema, bony tenderness, signs of dehydration. Urinary cathter & IV cannula in situ. The blood pressure was 90/60 mm HG, pulse 98 bpm, Respiratory Rate 24/min,Temp-98.4 F. There is no thyromegaly. No significant lymphadenopathy. No raised JVP.
- 10. NEUROLOGICAL EXAMINATION Higher cerebral functions: Intact. Cranial nerves including fundoscopy: Normal. Motor system: Muscle tone: Decreased in both lower limbs, normal in upper limbs. Muscle power: Diminished (grade 0/5) in both lower limbs, normal in both upper limbs. Wasting: Present around the muscles of both knee joints.
- 11. Reflexes: Co-ordination: Normal in upper limbs, but could not be elicited on lower limbs due to weakness. Gait: Could not be elicited. Rombergism: Could not be elicited. Involuntary movements: absent. Cerebellar functions: Intact. Sensory System: Sensory perception of all modalities are impaired below Lumber 1 dermatome & intact above it. Jerks Biceps Triceps Supinat or Knee Ankle Planter Right Normal Normal Normal Absent Absent Extensor Left Normal Normal Normal Absent Absent Equivocal
- 12. Other systemic examination reveals no abnormality.
- 14. Spinal Cord compression due to hematoma with hemophilia with oral candidiasis
- 17. INVESTIGATIONS
- 18. CBC
- 19. 26/08/19
- 20. 14/09/19
- 21. 21/09/19
- 22. 25/09/19
- 23. APTT 26/08/19 08/09/19 14/09/19 Control 28s 32s 28s Patient 46s 104s 46s
- 24. Serum ferritin: 370 ng/ml RBS: 7.73 mmol/L ALT: 58 U/L USG of W/A: Findings suggestive of cystitis
- 25. MRI OF DORSO- LUMBAR SPINE
- 27. FINAL DIAGNOSIS
- 28. Spinal Cord compression due to hematoma (From Thoracic 10 to Lumber 2 vertebra) with hemophilia A with oral candidiasis
- 30. VON WILLEBRAND FACTOR Multimeric protein that mediates adhesion of platelets at sites of vascular injury Collagen Glycoprotein Ib receptor High molecular weight multimers are more effective at binding platelets Carrier for coagulation factor VIII vWF exists as a set of multimers of different sizes. (Largest are responsible for platelet adhesion & aggregation)
- 31. SOURCES
- 35. CLEARANCE Macrophages in liver and spleen are believed to internalize and clear circulating vWF. The half-life of the plasma-derived therapeutic vWF is approximately 12 to 14 hours.
- 36. VON WILLEBRAND DISEASE Incidence – Most commonly inherited bleeding disorder affecting 0.1-1% Prevalence- prevalence of symptom is much lower 0.01% Due to incomplete penetrance and mild cases pt are asymptomatic until investigated Gender- either gender affected as it is Autosomal disorder. (Autosomal dominant inheritance)
- 38. TYPES OF VWD
- 39. CONT.
- 40. ACQUIRED VON WILLEBRAND SYNDROME
- 41. DIAGNOSTIC EVALUATION CBC profile can normal but may have Microcytic anaemia due Iron deficiency due to blood loss Thrombocytopenia Type 2B APTT normal in majority except Type 2N severe Type 1 and Type 3
- 42. CONFIRMATION OF DIAGNOSIS vWF Antigen levels (vWF:Ag) Enzyme-linked immunosorbent assay (ELISA) or latex immunoassay (LIA) method is used. Normal range is 50 to 200 IU/dL. Ristocetin cofactor activity assay (vWF:RCo) determines the capacity of vWF to agglutinate exogenous platelets in the presence of Ristocetin. Normal range is 50 to 200 IU/dL.
- 43. CONT. vWF:RCo/VWF:Ag ratio assesses the ratio of vWF activity to antigen in plasma. A ratio of <0.6 is indicative of a qualitative vWF deficiency. A value of <0.6 is seen in all type 2 vWD subtypes. Factor VIII coagulant assay (FVIII:C) measures the plasma concentration of FVIII. To assay the ability of plasma to shorten PTT of FVIII-deficient plasma. Normal range is 50 to 200 IU/dL
- 44. CONT. vWF multimer analysis is a qualitative assay that determines the size distribution of vWF multimers. Protein electrophoresis method is used.
- 45. TREATMENT Local measures and antifibrinolytic agent (e.g. tranexamic acid for mild bleeding). DDAVP infusion for those with type 1 VWD. This releases VWF from endothelial cells 30 minutes after intravenous infusion. High‐purity VWF concentrates for patients with very low VWF levels. Plasma‐derived factor VIII/VWF concentrates are used. Recombinant VWF is now in clinical trials.