A challenging diagnosis: hereditary angioedema presenting during pregnancy

Ensuring timely genetic diagnosis in adults

“…Adults with undiagnosed genetic disorders wait an average of 19 years to receive an explanation for their symptoms and to receive targeted care. 1 Recently, this problem was highlighted in 3 CMAJ case reports of rare genetic diseases, namely acute intermittent porphyria, 2 hereditary angioedema 3 and familial Mediterranean fever. 4 These case reports highlight 5 key clinical situations that should trigger clinicians to start a genetic work-up.…”

“…In all 3 related cases, the patients presented multiple times to the emergency department and other care environments without any unifying pathology. [2][3][4] In 2 of the cases, the patients required hospital admission, 3,4 1 of them for more than 2 months. 4 All of the patients had a suboptimal response to conventional treatment and continued to be symptomatic until the correct diagnosis was made.…”

“…4 All of the patients had a suboptimal response to conventional treatment and continued to be symptomatic until the correct diagnosis was made. [2][3][4] Although it may be challenging to differentiate a genetic disorder from a functional disorder, for which investigations may be similarly inconclusive, the presence of persistent abnormal clinical findings -such as abnormal vital signs, un explained clinical markers and continued objective signs on physical examinationcan help distinguish between them. [2][3][4] Suspicion of an underlying genetic diagnosis should be increased for adults with a history of seemingly unrelated diagnoses in multiple systems, particularly when the patient is in a different demographic than is typical for a particular condition or if they lack the expected risk factors.…”

“…[2][3][4] Although it may be challenging to differentiate a genetic disorder from a functional disorder, for which investigations may be similarly inconclusive, the presence of persistent abnormal clinical findings -such as abnormal vital signs, un explained clinical markers and continued objective signs on physical examinationcan help distinguish between them. [2][3][4] Suspicion of an underlying genetic diagnosis should be increased for adults with a history of seemingly unrelated diagnoses in multiple systems, particularly when the patient is in a different demographic than is typical for a particular condition or if they lack the expected risk factors. [1][2][3][4] In one of the related cases, the patient's previous incorrect diagnoses of appendicitis, pancreatitis and cholecystitis appeared to have been made in the absence of risk factors.…”

“…[2][3][4] Suspicion of an underlying genetic diagnosis should be increased for adults with a history of seemingly unrelated diagnoses in multiple systems, particularly when the patient is in a different demographic than is typical for a particular condition or if they lack the expected risk factors. [1][2][3][4] In one of the related cases, the patient's previous incorrect diagnoses of appendicitis, pancreatitis and cholecystitis appeared to have been made in the absence of risk factors. 4 Atypical imaging or laboratory findings and lack of expected pathology further supported the possibility of a unifying genetic diagnosis.…”