Snapshot A 22-year-old female with a history of celiac disease comes to the office for chronic watery diarrhea. She recently returned from a vacation in Mexico. On further chart review, she has had multiple episodes of sinus infections, pneumonia, and otitis media throughout her childhood. After her last pregnancy, she received a blood transfusion following severe post-partum hemorrhage and experienced an anaphylactic reaction. Physical exam reveals chronic eczema on the flexural surface of the arms. Stool analysis is positive for Giardia. Introduction Primary immunodeficiency with decreased levels of IgA Epidemiology Most common primary immunodeficiency May be inherited (recessive and dominant forms identified) May be drug-induced Most common in individuals of European descent Prevalence 1 in 500 persons ETIOLOGY Pathogenesis cause is unknown B-cells fail to differentiate into IgA producing plasma cells impairs mucosal immunity, leading to sinopulmonary infections Associated conditions increased incidence of autoimmune diseases celiac disease atopy allergies atopic dermatitis asthma Presentation Symptoms most = asymptomatic sinus and lung infections usually Streptococcus pneumoniae and other encapsulated bacteria GI infections especially giardiasis severe allergies atopic dermatitis anaphylaxis with exposure to blood products containing IgA IMAGING Radiography to identify infections secondary to low IgA STUDIES Serology ↓ IgA (< 7 mg/dL) normal IgG and IgM false positive β-hCG Differential Diagnosis Common variable immunodeficiency IgG deficiency Ataxia-telangiectasia (↓ IgA, IgG, and IgE) Hyper-IgM syndrome (↓ IgA, IgG, IgE, and ↑ IgM) normal B and T cell by flow cytometry may have deficient expression of CD40L on activated T-helper cells presents with severe pyogenic infections early in life chronic diarrhea opportunistic infections, such as recurrent pneumonia increased risk for hyperviscosity syndrome due to elevated levels of IgM malignancies (HCC and carcinoid tumor) DIAGNOSIS Diagnosis based on clinical history Treatment Prevention avoid blood transfusions unless treated with saline wash or from IgA deficient individual Usually no specific treatment Antibiotics as needed for infections Immunizations Blood transfusions wash RBCs with saline or obtain blood from IgA-deficient donor Complications Recurrent sinopulmonary infections Diarrhea from Giardiasis Fatal anaphylaxis Prognosis Typically very good Some patients spontaneously develop normal IgA levels
QUESTIONS 1 of 4 1 2 3 4 Previous Next Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK (M2.RH.15.4671) A 16-year-old boy is brought to the emergency department following a car accident in which he suffered multiple injuries. He is accompanied by his mother. She reports that his medical history is notable only for recurrent sinusitis and otitis as a child. He lost a significant amount of blood from the accident, and he is transfused two units of O-negative blood on arrival at the emergency department. Shortly thereafter, he complains of itching and increasing shortness of breath. He develops stridor. Which of the following could have prevented this reaction? QID: 107170 Type & Select Correct Answer 1 Pre-transfusion acetaminophen 0% (0/27) 2 Pre-transfusion diphenhydramine 4% (1/27) 3 Administering type-specific blood 7% (2/27) 4 Administering IVIG with transfusion 4% (1/27) 5 Administering washed blood products 81% (22/27) M 6 Question Complexity D Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 5 Review Tested Concept Review Full Topic (M2.RH.14.93) An 18-year-old man presents to a rural emergency department after being stabbed multiple times. The patient's past medical history is notable for obesity, diabetes, chronic upper respiratory infections, a 10 pack-year smoking history, and heart failure. He is protecting his airway and he is oxygenating and ventilating well. His temperature is 97.6°F (36.4°C), blood pressure is 74/34 mmHg, pulse is 180/min, respirations are 24/min, and oxygen saturation is 98% on room air. The patient is started on whole blood and the surgeon on call is contacted to take the patient to the operating room. During the secondary survey, the patient complains of shortness of breath. His blood pressure is 54/14 mmHg, pulse is 200/min, respirations are 24/min, and oxygen saturation is 90% on room air. Physical exam is notable for bilateral wheezing on lung exam. The patient goes into cardiac arrest and after 30 minutes, attempts at resuscitation are terminated. Which of the following is associated with this patient's decompensation during resuscitation? QID: 104884 Type & Select Correct Answer 1 Congenital long QT syndrome 51% (23/45) 2 COPD 7% (3/45) 3 Heart failure 13% (6/45) 4 IgA deficiency 16% (7/45) 5 Persistent intraabdominal bleeding 11% (5/45) M 6 Question Complexity E Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 4 Review Tested Concept Review Full Topic
All Videos (1) Login to View Community Videos Login to View Community Videos Selective IgA Deficiency Pediatrics - IgA Deficiency D 4/2/2019 96 views 5.0 (2)