Woman given HAE type 1 diagnosis after 20-year delay: Case report
The patient had no family history of the disease
A woman was diagnosed with hereditary angioedema (HAE) 20 years after her first symptoms, according to a case report in Nepal.
The case highlights “the importance of early diagnosis and effective management to alleviate patient suffering,” the report’s researchers wrote. The case report, “A Two-Decade-Delayed Diagnosis of Hereditary Angioedema: A Case Report,” was published in Cureus.
HAE is a genetic disorder primarily caused by mutations in the SERPING1 gene, which provides instructions for making the C1 esterase inhibitor (C1-INH) protein. Genetic mutations may cause C1-INH levels to be very low, called HAE type 1, or cause the protein to malfunction, as in HAE type 2. In either case, the lack of functional C1-INH leads to the sudden and recurrent swelling attacks that characterize HAE.
Due to its rarity, diagnosing HAE presents significant challenges, particularly in patients without a disease family history.
Reaching a diagnosis of HAE type 1
The woman, 30, went to the emergency department after having a full day of colicky abdominal pain, accompanied by distension and tenderness. Her pain episodes occurred about every two weeks, which led to a number of hospital admissions and diagnostic tests.
The woman’s doctors considered a number of diagnoses, including gastroenteritis, peptic ulcer disease, pancreatitis, urinary tract infection, pelvic inflammatory disease, cholecystitis, and appendicitis, but her symptoms were resistant to medications for all of them and her symptoms typically resolved spontaneously within two to five days. These episodes were sometimes accompanied by swelling in the upper and lower extremities, and less commonly by swelling in the lips, tongue, eyelids, and face. There was no familial history of what she was experiencing.
A physical exam revealed abdominal distension and tenderness, while lab tests showed her liver and kidney function were normal. A contrast-enhanced computed tomography scan showed significant swelling in the walls of the last two segments of the colon.
Further lab tests indicated severely reduced levels of C4 complement and C1-INH, consistent with a diagnosis of HAE type 1. Genetic testing revealed a SERPING1 genetic mutation, confirming the diagnosis.
The woman was treated with plasma-derived C1-INH administered into her bloodstream, which led to significant improvements in her condition. The frequency and severity of her symptoms, including pain and swelling, decreased after a month of treatment.
“This case illustrates the challenges in diagnosing and managing HAE, particularly in patients without a family history and in resource-limited settings,” the researchers wrote. “It underscores the importance of increased awareness among healthcare providers to prevent unnecessary investigations and treatments, including surgeries.”
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