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Hereditary Angioedema

84 papers & discussions

A rare genetic disorder causing recurring episodes of severe swelling in the skin and mucous membranes.

Sudden swellingAbdominal painSwelling of throatFatigueSkin tinglingNausea

Research

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PubMed

On-demand treatment of icatibant in a patient of hereditary angioedema with KNG1 mutation.

hereditary angioedema
PubMed

[Clinical presentation and diagnosis of bradykinin-mediated angioedema].

Bradykinin-mediated angioedema is a rare disease causing painful, nonitching edema not responding to mast cell-directed therapy. Involvement of the upper airways can be life threatening. Summary and overview of clinical manifestations and diagnostics of different types of angioedema to facilita…

mast cellhereditary angioedema
PubMed

The swell within: a rare case of type 1 hereditary angioedema.

We report the case of a 20-year-old woman who presented with facial swelling and recurrent abdominal pain. Subsequent evaluation confirmed a diagnosis of type 1 hereditary angioedema due to reduced levels of C1 esterase inhibitor. Timely diagnosis and personalized management significantly enhanced h…

hereditary angioedema
PubMed

Sebetralstat for breakthrough attacks in patients with hereditary angioedema receiving long-term prophylaxis in KONFIDENT-S.

Although long-term prophylaxis (LTP) reduces attack frequency in hereditary angioedema, patients may experience breakthrough attacks. Oral sebetralstat demonstrated favorable safety and efficacy compared with placebo in the randomized phase 3 KONFIDENT trial (NCT05259917), including in patients rece…

hereditary angioedema
PubMed

Transient C1-Inhibitor Functional Abnormalities During Acute Idiopathic Pancreatitis: A Diagnostic Challenge in Hereditary Angioedema Evaluation.

Hereditary angioedema (HAE) is an important but uncommon differential diagnosis in patients presenting with unexplained recurrent abdominal attacks, including idiopathic acute pancreatitis (IAP). However, whether acute IAP itself transiently affects complement test results and complicates the evalua…

hereditary angioedema
PubMed

Evaluating deucrictibant for the treatment of hereditary angioedema.

Hereditary Angioedema (HAE) is a rare disease affecting approximately 1 in 50,000 people. It results in angioedema of the skin, abdominal tract and upper airway that results in disfiguration, abdominal pain and potential for asphyxia. Early therapies for HAE have significant drug burden due to intra…

hereditary angioedema
PubMed

Pediatric hereditary angioedema presenting as recurrent episodic abdominal pain and vomiting: Challenges in diagnosis and management.

Recurrent episodic abdominal pain and vomiting, with symptom-free intervals between attacks, represent common and often challenging presentations in children, typically leading to extensive workups without a clear etiology, as standard diagnostic algorithms fail to include rare systemic conditions.…

hereditary angioedema
PubMed

Berotralstat Tolerability and Effectiveness in Hereditary Angioedema: Berolife Study Results.

Berotralstat is a first-line once-daily oral prophylactic treatment for hereditary angioedema (HAE). Berolife was designed to evaluate the tolerability and effectiveness of berotralstat in real-world conditions. Berolife is an open-label, multicenter, observational study conducted in France from Sep…

hereditary angioedema

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