A seven year old girl presents with repeated episodes of bleeding into joints. APTT is prolonged and PT is normal. The most likely diagnosis is.
Answer is C (Von Willebrand disease) Bleeding into joints along with normal PT and prolonged APTT iii a girl/female suggest a diagnosis of Von Willebrand disease Bleeding into joints along with prolonged APTT and normal PT may be seen in Factor VIII deficiency (Hemophilia A) and Von Willebrand disese. Hemophilia A is an X Linked disorder that alfects only boys and 11107 (Women who carry a single mutated gene are asymptomatic).- The patient in question is a seven year old girl and is hence unlikely to have hemophilia A. Von Willebrand Disease is an Autosomally inherited condition and may affect both boys and girls. This condition may present with bleeding into joints and is associated with prolonged APTT and normal PT. VWF disease is therefore the single best answer of choice Von Willebrand disease and Hemophilia A may both present nN ith bleeding into joints, prolonged APTT and normal PT I RUT Hemophilia A is a sex linked disorder that primarily involves males /boys alone. Features of VWF and differences with Haemophilia A Feature Hemophilia A Von Willebrand Disease Inheritance Sex linked Clinical disease limited to Men /boys (Extremely rare in females) Antosontal (Most eonttnonly A-dominant) Clinical disease may be seen in both boys & girls Factor Ville Decreased . Decreased VWF Normal Decreased Ristocetin cofactor Normal Decreased Common Presentation Features of clotting disorder Skin/Mucosal bleeding Hemahrosis ++ Features of bleeding disorder +- clotting disorder Skin/Mucosal bleeding + Hemahrosis+ Bleeding Time Normal Prolonged APTT Prolonged Prolonged (may be normal) PT Normal Normal Thrombin Time Normal Normal Fibrinogen Normal Normal Platelet aggregation in Response to Ristocetin Normal Decreased Factor VII deficiency is associated N1 ith an isolated prolon2ation of PT (APTT is normal) Causes of isolated prolongation of PT (CMDT): Factor VII deficiency Vitamin K deficiency Warfarin therapy Liver disease Factor XI I deficiency may present with an isolated prolon2ation of APTT (normal PT) associated N% it h clinical Bleedintl tendencies (Nelson/Clinical Hem:twiny) 'Factor XII deficiency is a rare hereditary deject of coagulation factors ill which no clinical apparent' - Clinical Hematology but this condition is not bleeding tendancies are Isolated elongation of APTT with bleeding manifestations Isolated prolongation of APTT without bleeding manifestations Factor VIII detect Factor 11I detect Factor IX defixt Prekallekrein defect Factor XI detect HAIN' Kininogen defect
Factor VIII deficiency (Hemophilia A)
Factor VII deficiency
Von Willebrand Disease
Factor XII deficiency