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CONDITIONS MIMICKING ANGIOEDEMA: SUSPECTING ALTERNATIVE CAUSES OF SWELLING IN CLINIC
S88
Abstracts: Medically Challenging Cases / Ann Allergy Asthma Immunol 121 (2018) S63−S134
M165
Macroglossia due to amyloidosis
SCREENING FOR HEREDITARY ANGIOEDEMA IN INFANCY G. Patel*, M. Pasha, Albany, NY Introduction: Hereditary angioedema (HAE) can be difficult to diagnose in infancy because C1 esterase inhibitor levels and function do not reach normal values until about one year of age. We describe a case of a 4-month-old boy who required screening for HAE. Case Description: Patient is a 4-month-old boy who presented for screening for HAE because both father and grandfather have HAE. Patient has not had any symptoms of angioedema. No testing was done at the initial visit due to high rates of false positives in infancy. The patient was monitored regularly throughout his first year of life for any symptoms of HAE. At one year of age, testing was performed which showed C1 esterase level of 15 mg/dL (21-39) and function of 61% (normal >67, equivocal 41-67, abnormal Discussion: Family members of those with HAE should be screened for HAE. C1 esterase inhibitor level and function is typically lower in infants than in adults, leading to false positive results in infancy. This makes it difficult to diagnose HAE in infants and no clear consensus exists on how to appropriately screen these individuals. For our patient, we chose to follow regularly until he was one year of age and advised his family to contact us if he had any symptoms or required any surgical procedure. At one year of age, testing revealed he had type 1 HAE. We prescribed plasma derived C1 inhibitor concentrate, which is the only approved medication for acute treatment of HAE in children under 12.
M166 CONDITIONS MIMICKING ANGIOEDEMA: SUSPECTING ALTERNATIVE CAUSES OF SWELLING IN CLINIC P. Gleeson*, O. Fadugba, Philadelphia, PA Introduction: Patients are often referred to Allergy and Immunology for an evaluation of swelling. An awareness of the clinical features of angioedema will aid clinicians in establishing the correct diagnosis. This is illustrated by two cases at the University of Pennsylvania Allergy and Immunology Clinic involving cutaneous and mucous membrane swelling due to unrecognized systemic diseases. Case Description: A 72-year-old male presented with symmetric, constant enlargement of his tongue for the past year. He had dyspnea for the same duration. Examination revealed a symmetrically enlarged tongue. He was referred to oncology and was diagnosed with amyloidosis by lab work and biopsy. A 74-year-old female presented with intermittent, symmetric swelling of her neck and around her eyes for the past several months, worse in the morning and improving throughout the day. She had dyspnea and a cough for the same period. A laboratory evaluation was unrevealing and a trial off an ARB was unsuccessful. A CT chest was performed showing a large mediastinal mass, and she was diagnosed with SVC syndrome. Discussion: Angioedema presents with episodic, asymmetric swelling of the skin or mucous membranes. Associated urticaria suggests a histaminergic etiology, whereas isolated angioedema should prompt an investigation for other causes. Angioedema due to ACE-Is or ARBs involves the face, lips, and tongue, whereas hereditary and acquired angioedema affect the face, oropharynx, extremities, abdomen, or genitalia. Atypical features or time course should broaden the differential diagnosis, especially when systemic signs are present or other organ systems are involved.
M167 HEREDITARY ANGIOEDEMA PRECIPITATED BY CONSTIPATION SECONDARY TO STIMULANT MEDICATION USE M. Cardenas-Morales*1, Y. Chang1, W. Blouin2, V. Hernandez-Trujillo3, 1. Miami, FL; 2. North Miami, FL; 3. Miami Lakes, FL Introduction: Hereditary angioedema (HAE) is an inherited condition manifesting as recurrent episodes of swelling that commonly affects the skin and gastrointestinal tract (1,8). Various triggers can be the precipitating factors in an acute episode of HAE, however, sometimes the culprit cannot be determined. Case Description: We present a patient with a diagnosis of hereditary angioedema, concomitant ADHD, with recurrent gastrointestinal exacerbations. Within 3 years, he had nine presentations to the emergency room, four related to abdominal pain, and the remainder for swelling alone. All presentations with abdominal pain had documentation indicating patient had not had a bowel movement for several days. He had abdominal ultrasounds showing thickened bowel loops and small amount of ascites, indicating likely hereditary angioedema attack with gastrointestinal involvement. HAE attacks became more frequent following initiation of stimulant medication for ADHD. It is hypothesized that these frequent attacks were exacerbated by constipation secondary to stimulant medication use, and upon discontinuation of medication, he has not presented to the ER with further abdominal crisis. Discussion: HAE may present as recurrent episodes of swelling in one or more body parts, but should also be suspected when there are recurrent bouts of abdominal pain with or without emesis. Constipation, a common presenting pediatric complaint, can lead to stress on the body and result in an HAE acute attack (3,7). We are presenting this case for health care providers to consider stimulant medication as a cause of constipation in patients with HAE presenting with abdominal crisis.
M168 REFRACTORY ABDOMINAL WALL ANGIOEDEMA IN A YOUNG FEMALE WITH KNOWN HEREDITARY ANGIOEDEMA C. Rigell*, St Louis, MO
Abstracts: Medically Challenging Cases / Ann Allergy Asthma Immunol 121 (2018) S63−S134
M165
Macroglossia due to amyloidosis
SCREENING FOR HEREDITARY ANGIOEDEMA IN INFANCY G. Patel*, M. Pasha, Albany, NY Introduction: Hereditary angioedema (HAE) can be difficult to diagnose in infancy because C1 esterase inhibitor levels and function do not reach normal values until about one year of age. We describe a case of a 4-month-old boy who required screening for HAE. Case Description: Patient is a 4-month-old boy who presented for screening for HAE because both father and grandfather have HAE. Patient has not had any symptoms of angioedema. No testing was done at the initial visit due to high rates of false positives in infancy. The patient was monitored regularly throughout his first year of life for any symptoms of HAE. At one year of age, testing was performed which showed C1 esterase level of 15 mg/dL (21-39) and function of 61% (normal >67, equivocal 41-67, abnormal Discussion: Family members of those with HAE should be screened for HAE. C1 esterase inhibitor level and function is typically lower in infants than in adults, leading to false positive results in infancy. This makes it difficult to diagnose HAE in infants and no clear consensus exists on how to appropriately screen these individuals. For our patient, we chose to follow regularly until he was one year of age and advised his family to contact us if he had any symptoms or required any surgical procedure. At one year of age, testing revealed he had type 1 HAE. We prescribed plasma derived C1 inhibitor concentrate, which is the only approved medication for acute treatment of HAE in children under 12.
M166 CONDITIONS MIMICKING ANGIOEDEMA: SUSPECTING ALTERNATIVE CAUSES OF SWELLING IN CLINIC P. Gleeson*, O. Fadugba, Philadelphia, PA Introduction: Patients are often referred to Allergy and Immunology for an evaluation of swelling. An awareness of the clinical features of angioedema will aid clinicians in establishing the correct diagnosis. This is illustrated by two cases at the University of Pennsylvania Allergy and Immunology Clinic involving cutaneous and mucous membrane swelling due to unrecognized systemic diseases. Case Description: A 72-year-old male presented with symmetric, constant enlargement of his tongue for the past year. He had dyspnea for the same duration. Examination revealed a symmetrically enlarged tongue. He was referred to oncology and was diagnosed with amyloidosis by lab work and biopsy. A 74-year-old female presented with intermittent, symmetric swelling of her neck and around her eyes for the past several months, worse in the morning and improving throughout the day. She had dyspnea and a cough for the same period. A laboratory evaluation was unrevealing and a trial off an ARB was unsuccessful. A CT chest was performed showing a large mediastinal mass, and she was diagnosed with SVC syndrome. Discussion: Angioedema presents with episodic, asymmetric swelling of the skin or mucous membranes. Associated urticaria suggests a histaminergic etiology, whereas isolated angioedema should prompt an investigation for other causes. Angioedema due to ACE-Is or ARBs involves the face, lips, and tongue, whereas hereditary and acquired angioedema affect the face, oropharynx, extremities, abdomen, or genitalia. Atypical features or time course should broaden the differential diagnosis, especially when systemic signs are present or other organ systems are involved.
M167 HEREDITARY ANGIOEDEMA PRECIPITATED BY CONSTIPATION SECONDARY TO STIMULANT MEDICATION USE M. Cardenas-Morales*1, Y. Chang1, W. Blouin2, V. Hernandez-Trujillo3, 1. Miami, FL; 2. North Miami, FL; 3. Miami Lakes, FL Introduction: Hereditary angioedema (HAE) is an inherited condition manifesting as recurrent episodes of swelling that commonly affects the skin and gastrointestinal tract (1,8). Various triggers can be the precipitating factors in an acute episode of HAE, however, sometimes the culprit cannot be determined. Case Description: We present a patient with a diagnosis of hereditary angioedema, concomitant ADHD, with recurrent gastrointestinal exacerbations. Within 3 years, he had nine presentations to the emergency room, four related to abdominal pain, and the remainder for swelling alone. All presentations with abdominal pain had documentation indicating patient had not had a bowel movement for several days. He had abdominal ultrasounds showing thickened bowel loops and small amount of ascites, indicating likely hereditary angioedema attack with gastrointestinal involvement. HAE attacks became more frequent following initiation of stimulant medication for ADHD. It is hypothesized that these frequent attacks were exacerbated by constipation secondary to stimulant medication use, and upon discontinuation of medication, he has not presented to the ER with further abdominal crisis. Discussion: HAE may present as recurrent episodes of swelling in one or more body parts, but should also be suspected when there are recurrent bouts of abdominal pain with or without emesis. Constipation, a common presenting pediatric complaint, can lead to stress on the body and result in an HAE acute attack (3,7). We are presenting this case for health care providers to consider stimulant medication as a cause of constipation in patients with HAE presenting with abdominal crisis.
M168 REFRACTORY ABDOMINAL WALL ANGIOEDEMA IN A YOUNG FEMALE WITH KNOWN HEREDITARY ANGIOEDEMA C. Rigell*, St Louis, MO