A 10 year-old boy is brought to your office because his mother is concerned about his frequent bouts of sinusitis, pneumonia and skin infections. He has beautiful blue eyes but is unusually sensitive to bright light. Mother reports that there are some relatives with blue eyes and albinism in her extended family. Physical examination is significant for silvery hair, albinism, hepatosplenomegaly, and ecchymosis. Laboratory tests show neutropenia, thrombocytopenia, elevated bleeding time and hypergammaglobulinemia. Pathology report says there are peroxidase-positive giant granules in the neutrophils on peripheral smear. You wonder whether this boy has an autosomal recessive disease. Of the following, which disease is autosomal recessive?
A 10 year-old boy is brought to your office because his mother is concerned about his frequent bouts of sinusitis, pneumonia and skin infections. He has beautiful blue eyes but is unusually sensitive to bright light. Mother reports that there are some relatives with blue eyes and albinism in her extended family. Physical examination is significant for silvery hair, albinism, hepatosplenomegaly, and ecchymosis. Laboratory tests show neutropenia, thrombocytopenia, elevated bleeding time and hypergammaglobulinemia. Pathology report says there are peroxidase-positive giant granules in the neutrophils on peripheral smear. You suspected Chédiak-Higashi syndrome in this boy. Of the following, which leukocyte morphology is characteristic of Chediak-Higashi syndrome?
A 10 year-old boy is brought to your office because his mother is concerned about his frequent bouts of sinusitis, pneumonia and skin infections. He has beautiful blue eyes but is unusually sensitive to bright light. Mother reports that there are some relatives with blue eyes and albinism in her extended family. Physical examination is significant for silvery hair, albinism, hepatosplenomegaly, and ecchymosis. Laboratory tests show neutropenia, thrombocytopenia, elevated bleeding time and hypergammaglobulinemia. Pathology report says there are peroxidase-positive giant granules in the neutrophils on peripheral smear. You suspected Chédiak-Higashi syndrome in this boy. Of the following proteins, which is affected in Chédiak-Higashi syndrome?
A 7 year-old male comes to your clinic with a large blister on his left foot. They come and disappear after a few days. Occasionally, he also develops swollen lips, swollen tongue, colicky abdominal pain with these blisters. Blisters are not itchy but slightly painful. These episodes come every few months and last for 1-2 days. Patient reports that one of his uncles has a similar disorder. Laboratory tests revealed low C4 complement level and low C1 esterase inhibitor level. What is the most likely diagnosis in this patient?
Of the following, which is shown to be effective in the treatment of ACE-inhibitor induced angioedema?
Of the following, which is shown to be effective in the treatment of life-threatening hereditary angioedema?
An 87 year-old female was brought to the hospital with sudden confusion, trouble speaking, trouble walking, dizziness, loss of balance and severe headache for the last 3 hours. She was diagnosed with acute ischemic stroke and was started on tissue plasminogen activator (tPA) IV infusion. After a few minutes, the patient started to develop a swollen face, swollen tongue, swollen lips, low blood pressure, a weak, rapid pulse and difficulty breathing. Suspecting anaphylaxis, you administered epinephrine, antihistamines and steroids. However, she was not responding to these measures and her distress only worsened with time. Ninety minutes later, you checked her serum tryptase level, which is normal. What is the next best action in her management?
A 48 yo female came to your urgent care clinic complaining of stress, swollen face, swollen lips, hoarseness of voice, some difficulty breathing, episodes of abdominal pain, and watery diarrhea for the last one week. Her current medications include lisinopril for hypertension and paroxetine for anxiety and obsessive compulsive disorder. She has been taking lisinopril 10 mg daily for over 10 years and paroxetine 20 mg daily for over 6 years. Her vital signs were Temperature 97.7 F, Respiratory rate 19/minute, Pulse 75/minute, BP 118/78 mm Hg. Her physical examination is significant for swollen lips, swollen face and tenderness in all quadrants of abdomen with palpation. Suspecting angioedema, you ordered serum C4 level, which gave a result of 4 mg/dl (normal 12 – 38 mg/dl). Her symptoms subsided over the next few days. Going forward, how would you manage her high blood pressure?
Of the following, which is the best cost-effective screening test to diagnose hereditary angioedema in a patient with symptoms and signs suggestive of hereditary angioedema?
