244 Haemophilia A Instruction Examine this patient’s knee (or elbow) joint; he has a bleeding disorder. Salient features History • Family history of bleeding (X-linked recessive disorder): draw the family tree • Recurrent bleeding into the joints • Intramuscular haematomas (after trauma, such as injections) • Retroperitoneal bleeds • Bleeding from mucous membranes • Haematuria, haemospermia • Intracranial bleeds (second most common cause of death in haemophiliacs after HIV) • History of spontaneous bleeds (suggests severe disease). Examination • Male patient • Fixed deformity of the joint (haemarthrosis causes bone and joint destruction). Proceed as follows: Diagnosis This patient has a fixed deformity of the elbow (lesion) caused by bleeding into the joint as a complication of haemophilia A (aetiology). The joint is now undergoing osteoarthritic changes (functional status). Note: Be prepared to discuss the coagulation cascasde. Questions What is the inheritance of haemophilia? One-third are sporadic and the rest are X-linked (defects include deletions, point mutations and insertions on the X chromosome). Only gold members can continue reading. Log In or Register to continue Share this:Click to share on Twitter (Opens in new window)Click to share on Facebook (Opens in new window)Like this:Like Loading... Related Related posts: Permanent cardiac pacemaker/implantable cardioverter-defibrillator Cauda equina syndrome Dermatomyositis Dystrophia myotonica Stay updated, free articles. Join our Telegram channel Join Tags: 250 Cases in Clinical Medicine Dec 4, 2016 | Posted by admin in GENERAL & FAMILY MEDICINE | Comments Off on Haemophilia A Full access? Get Clinical Tree
244 Haemophilia A Instruction Examine this patient’s knee (or elbow) joint; he has a bleeding disorder. Salient features History • Family history of bleeding (X-linked recessive disorder): draw the family tree • Recurrent bleeding into the joints • Intramuscular haematomas (after trauma, such as injections) • Retroperitoneal bleeds • Bleeding from mucous membranes • Haematuria, haemospermia • Intracranial bleeds (second most common cause of death in haemophiliacs after HIV) • History of spontaneous bleeds (suggests severe disease). Examination • Male patient • Fixed deformity of the joint (haemarthrosis causes bone and joint destruction). Proceed as follows: Diagnosis This patient has a fixed deformity of the elbow (lesion) caused by bleeding into the joint as a complication of haemophilia A (aetiology). The joint is now undergoing osteoarthritic changes (functional status). Note: Be prepared to discuss the coagulation cascasde. Questions What is the inheritance of haemophilia? One-third are sporadic and the rest are X-linked (defects include deletions, point mutations and insertions on the X chromosome). Only gold members can continue reading. Log In or Register to continue Share this:Click to share on Twitter (Opens in new window)Click to share on Facebook (Opens in new window)Like this:Like Loading... Related Related posts: Permanent cardiac pacemaker/implantable cardioverter-defibrillator Cauda equina syndrome Dermatomyositis Dystrophia myotonica Stay updated, free articles. Join our Telegram channel Join Tags: 250 Cases in Clinical Medicine Dec 4, 2016 | Posted by admin in GENERAL & FAMILY MEDICINE | Comments Off on Haemophilia A Full access? Get Clinical Tree
