The physician and hereditary angioedema friend or foe: 62-year diagnostic delay and iatrogenic procedures
Bibliographic record
Abstract
BACKGROUND: Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare autosomal dominant disease characterized by episodes of acute subcutaneous swelling, and/or recurrent severe abdominal pain. The disease is potentially fatal if the upper-airway is involved. Iatrogenic harm can occur if HAE is not considered in the differential diagnosis, the specialists are not aware of the natural history, diagnosis and treatment of HAE, or as a result of unnecessary surgical and other iatrogenic interventions. CASE PRESENTATION: We present the case of a 72-year-old man who began suffering recurrent abdominal pain at the age of 8 years. The pain led to frequent emergency department visits, three emergency surgical interventions, and 5 endoscopies before C1-INH-HAE was diagnosed at the age of 70. Infrequent subcutaneous swellings were attributed to unknown allergic reactions that were not related to the primary diagnosis of abdominal pain. Family history was positive for recurrent abdominal pain and angioedema but was ignored until the propositus' grandson developed recurrent severe oro-facial edema attacks. The boy's mother searched the worldwide web and found educational materials on a patient association website. She suggested complement C4 and C1-INH testing that led to the appropriate diagnosis of C1-INH-HAE type 1 in her son and his grandfather. CONCLUSION: This report emphasizes the importance of accurately evaluating personal and family history in patients with a long history of recurrent, acute, severe but medically unexplained abdominal pain and cutaneous swellings. Here, the diagnosis of HAE was overlooked for 62 years and the focus on abdominal complaints led to numerous surgical interventions without consideration of the full differential diagnosis. Screening family members from all generations for unrecognized angioedema, abdominal pain, and measurement of C1-INH and C4 are essential for accurate and timely diagnosis of HAE.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.003 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.001 | 0.002 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.002 |
| Insufficient payload (model declined to judge) | 0.005 | 0.001 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".