Bleeding and Thrombosis in Children Alice J. Cohen, M.D. Newark Beth Israel Medical Center

History 13 year old white male presented to an orthopedic surgeon for a second opinion for an injury to his left elbow that had occurred 8 weeks ago while playing basketball 13 year old white male presented to an orthopedic surgeon for a second opinion for an injury to his left elbow that had occurred 8 weeks ago while playing basketball Physical therapy had been ongoing for 6 weeks without improvement of pain nor range of motion of this left elbow Physical therapy had been ongoing for 6 weeks without improvement of pain nor range of motion of this left elbow

Past Medical History Age 3 child reverted back to crawling for several weeks because his right ankle hurt Age 3 child reverted back to crawling for several weeks because his right ankle hurt Age 5 DYFS investigated the family because a kindergarten teacher had seen numerous bruises Age 5 DYFS investigated the family because a kindergarten teacher had seen numerous bruises Age 7 epistaxis began Age 7 epistaxis began Age 9 bleeding with loss of a tooth Age 9 bleeding with loss of a tooth Age 10 episode of hematuria Age 10 episode of hematuria

Past Medical History Age 11 a large hematoma occurred when a soccer ball hit his left thigh Age 11 a large hematoma occurred when a soccer ball hit his left thigh Age 12 right hip injury while playing basketball Age 12 right hip injury while playing basketball No family history of bleeding disorders. No family history of bleeding disorders.

Physical Examination Left elbow boggy Left elbow boggy Unable to extend beyond 90 degrees Unable to extend beyond 90 degrees Multiple scattered bruises Multiple scattered bruises Right forearm hematoma Right forearm hematoma Right hip limited ROM with abduction and adduction Right hip limited ROM with abduction and adduction

Radiography X-ray left elbow no joint destruction X-ray left elbow no joint destruction CT scan left elbow - fluid in the joint space possibly blood CT scan left elbow - fluid in the joint space possibly blood Diagnosis - left elbow joint hemarthrosis Diagnosis - left elbow joint hemarthrosis Referral made to pediatric hematology Referral made to pediatric hematology

Laboratory Testing PT 14 seconds PT 14 seconds aPTT 51 seconds aPTT 51 seconds Factor VIII:C 12% Factor VIII:C 12% Von Willebrand antigen 91% Von Willebrand antigen 91% Von Willebrand activity 90% Von Willebrand activity 90%

Diagnosis Mild Hemophilia A

History 16 year old hispanic female presented complaining of left leg pain and swelling for 1 week. 16 year old hispanic female presented complaining of left leg pain and swelling for 1 week. No history of trauma. No other medical problems. No history of trauma. No other medical problems. Venous Dopplers positive for DVT of left ileofemoral vein. Venous Dopplers positive for DVT of left ileofemoral vein. Negative work up for underlying hypercoagulable state reported and she was treated with heparin and 6 months of warfarin therapy. Negative work up for underlying hypercoagulable state reported and she was treated with heparin and 6 months of warfarin therapy.

History She was well until age of 20 years (a doppler study was negative at age of 18) when she again presented with left lower leg pain and swelling for 1 week. The leg was so painful that she was unable to walk. She was well until age of 20 years (a doppler study was negative at age of 18) when she again presented with left lower leg pain and swelling for 1 week. The leg was so painful that she was unable to walk. Venous Doppler studies revealed DVT involving left common femoral, proximal superficial femoral and popliteal veins. Venous Doppler studies revealed DVT involving left common femoral, proximal superficial femoral and popliteal veins.

History No recent travel, trauma, use of oral contraceptives nor family history of thrombosis. No recent travel, trauma, use of oral contraceptives nor family history of thrombosis. Recent upper airway stenosis found. Recent upper airway stenosis found. Nonsmoker. Nonsmoker.

Physical Examination Lungs revealed inspiratory wheezing Lungs revealed inspiratory wheezing Left lower extremity 1+ nonpitting edema Left lower extremity 1+ nonpitting edema

Laboratory Testing Venous Dopplers revealed DVT involving common femoral, proximal superficial femoral, mid superficial femoral, distal superficial femoral, poplital veins. Venous Dopplers revealed DVT involving common femoral, proximal superficial femoral, mid superficial femoral, distal superficial femoral, poplital veins. Activated protein C resistance 0.98 (neg) Activated protein C resistance 0.98 (neg) Negative Factor V Leiden mutation Negative Factor V Leiden mutation Negative Prothrombin Gene Mutation Negative Prothrombin Gene Mutation Protein C 149% Protein C 149% Free protein S 78% Free protein S 78% Homocysteine <5 Homocysteine <5 Negative lupus anticoagulant and ACA’s Negative lupus anticoagulant and ACA’s FVIII 164% FVIII 164% ATIII activity 53% (88-125%) ATIII activity 53% (88-125%)

Diagnosis Antithrombin III deficiency Antithrombin III deficiency Recurrent spontaneous venous thrombosis Recurrent spontaneous venous thrombosis

Treatment Life-long anticoagulation with warfarin Life-long anticoagulation with warfarin