| Phenotype details |
A woman who reported experiencing HAE attacks and who was unaware of any family members with an HAE diagnosis. Previous diagnoses and treatments included medications for irritable bowel syndrome, ulcerative colitis, endometriosis, and the removal of the gallbladder. None of these treatments helped her symptoms. Her major sites of swelling included the stomach, rectum, colon, intestinal wall, and genitalia. |