A 28 year-old male patient comes to your office and reports severe headache, nausea, vomiting, lethargy and weakness. You notice he has a slurred speech as he answers your questions. He reports he frequently has been having nose bleeds since his childhood. Unlike in other children, his nose bleeds never stopped. His gums often bleed when he brushes his teeth. He has family members with bleeding disorders. Occasionally, he takes aspirin for his headaches. Later in physical examination, you notice focal neurological deficits and minor bruises. CT head reveals an intracranial hemorrhage. Laboratory results show low platelet count, prolonged bleeding time, normal prothrombin time and normal activated partial thromboplastin time. Peripheral smear is notable for giant, enormously large megakaryocytes and platelets. Platelet aggregation studies demonstrate a reduced response to ristocetin that is not corrected by the addition of normal plasma. Of the following, which is the most likely diagnosis in this patient?

A 34 year-old female comes to your office and reports easy bruising, mucosal bleeding, and heavy menstrual periods for the last 6 months. After diagnostic investigations, she was found to have von Willebrand disease. She reports she has family members with the history of this disease and of bleeding. You ordered coagulation studies which included Prothrombin Time (PT), Partial Thromboplastin Time (PTT), D-Dimer, platelet counts and peripheral smear. Which of the following is expected in her laboratory test results?

A mother brings her 6 year-old boy to the emergency room with a swollen left knee joint. He denies a history of trauma to the knee. He reports similar swellings in the right knee joint, right and left elbow joints. Many times he feels the bleeding before he notices the swelling. For the last few days, he has been passing very red colored urine. In the physical examination, you notice a warm, swollen, erythematous left knee joint with severe effusion. There is sensory loss over the lateral and anterior thigh. The quadriceps muscle is weak and small compared to the muscle on his right lower extremity. Patellar reflex is absent. Upon direct questioning, the mother reports that her brother suffers from a bleeding disorder, with frequent nosebleeds. Many of her relatives also have similar bleeding disorders, affecting mostly males. Laboratory tests reveal a normal bleeding time, a normal prothrombin time but a prolonged PTT. As you review the labs with the patient, he developed a severe headache, unrelenting vomiting, and slurred speech. A gross physical examination showed focal neurologic deficits. What is the next best step in the management of this patient?

A mother brings her 7 year-old boy to the emergency room with a swollen left knee joint. He denies a history of trauma to the knee. He reports similar swellings in the right knee joint, right and left elbow joints. Many times he feels the bleeding before he notices the swelling. For the last few days, he has been passing very red colored urine. In the physical examination, you notice a warm, swollen, erythematous left knee joint with severe effusion. There is sensory loss over the lateral and anterior thigh. The quadriceps muscle is weak and small compared to the muscle on his right lower extremity. Patellar reflex is absent. Upon direct questioning, the mother reports that her brother suffers from a bleeding disorder, with frequent nosebleeds. Many of her relatives also have similar bleeding disorders, affecting mostly males. Laboratory tests reveal a normal bleeding time, a normal prothrombin time but a prolonged PTT. As you review the labs with the patient, he developed a severe headache, unrelenting vomiting, and slurred speech. A gross physical examination showed focal neurologic deficits. What is the most likely diagnosis in this patient?

A 52-year-old man presents to the emergency department with complaints of abdominal pain, progressive abdominal swelling, and fatigue over the past two weeks. He reports increasing difficulty breathing when lying flat and unintentional weight gain due to fluid retention. He denies fever, nausea, or significant alcohol consumption but mentions a history of intermittent headaches and dizziness. On physical examination, he is noted to have hepatomegaly, abdominal distension with shifting dullness, and mild jaundice. His blood pressure and heart rate are normal, but his oxygen saturation is slightly reduced in the supine position. Liver function tests show mild transaminase elevations and hypoalbuminemia, while abdominal ultrasound with Doppler confirms hepatic vein thrombosis, consistent with Budd-Chiari syndrome (BCS). Of the following, which is the most frequent underlying disease associated with Budd-Chiari syndrome?