Hereditary angioedema with c1-inhibitor deficiency: a clinical case.

Author: Popova Olga Viktorovna. 

SM-clinic for children and adolescents.

Russia, Moscow

Problem description: HAE (hereditary angioedema) is a genetically determined, orphan disease associated with deficiency or reduction of C1-inhibitor function. The prevalence of the disease is between 1:10,000 and 1:150,000, leading to a low awareness of HAE symptoms among physicians. As a result, late diagnosis of the disease leads to a delay in prescribing adequate therapy to patients.

Materials and Methods: Presents a case report of a 39-year-old female patient diagnosed with Defect in the complement system: HAE type 1. (D 84.1 Defect in the complement system).

Results: The first symptoms of the disease patient appeared at the age of 19 in the form of peripheral edema, including mechanical stress, recurrent laryngeal edema and intestinal edema (verified during laparotomy). Despite a family history of the disease (confirmed HAE in biological father’s blood relatives and symptoms of HAE in the father himself), the diagnosis was verified only at the age of 34 (esterase C1 inhibitor complement test performed in 2017). Icatibant (bradykinin B2-receptor blocker) therapy was prescribed, which the patient is provided with in insufficient quantities and uses only when laryngeal edema develops. Despite the complicated course of pregnancies against the background of HAE, childbirth in 2017, 2018 and 2021. After the third birth, there was a significant clinical deterioration: attacks of soft tissue angioedema became more frequent up to 3 per week, intestinal edema weekly, laryngeal edema every 2 weeks, and increased edema at the slightest mechanical impact.

Considering the severity of the disease, it was recommended to intensify therapy, providing the patient with enough icatibant, human C1-esterase inhibitor drug at the rate of 20 IU/kg of body weight, and consider using lanadelumab (plasma active kallikrein inhibitor). The scheme of preparation for surgical interventions and medical manipulations, as well as situations associated with emotional stress, is described in detail.

Brief analysis and conclusions: The presented case of HAE, manifesting in several generations in the family, confirms the clinical and practical importance of awareness of doctors of different specialties about the symptoms, diagnosis, and treatment of this condition. Attention is drawn to the underestimation of the severity of her disease by both the patient herself and her relatives, as well as the lack of understanding about the hereditary nature of the pathology (the patient has 3 children). It is also important to note the difficulties in providing medication in a sufficient number for patients with orphan diseases.