Even in Severe Cases of HAE, Individualized Treatment is Crucial – Case Study
As part of the case seminar from the HAExpert series, held on December 1, 2021, which specifically focused on the treatment of hereditary angioedema (HAE) in specific patients, Dr. Roman Hakl from the Institute of Clinical Immunology and Allergology at MU Faculty of Medicine and St. Anne's University Hospital in Brno presented the case of a now 34-year-old woman with HAE and obesity (BMI 37 kg/m2), who additionally has a positive family history – the disease was also diagnosed in her mother, sister, and son.
Medical History
The first attack in this patient appeared at the age of 1. Initial symptoms occurred irregularly and were specifically localized in the gastrointestinal tract (GIT) and periphery (hands, feet). However, HAE was not diagnosed in the girl until she was 13 years old (in 2000), which means a delay of 12 years.
Diagnosis and Therapeutic Approach
Given the family history, tests were conducted for C1-INH concentration, C1-INH function, and genetic testing. The patient was diagnosed with Type I HAE with reduced concentration and function of C1-INH.
From 2000 to 2011, attacks occurred irregularly. In 2012, there were 14 attacks, 21 in both 2013 and 2014, followed by a sharp increase, with high frequency persisting until 2020. Thanks to a change in treatment (see below), there was a sharp decrease in 2021 (2015 – 63; 2016 – 80; 2017 – 61; 2018 – 73; 2019 – 81; 2020 – 77; 2021 – 7 /data presented Dec 1/).
The treatment plan gradually included the following approaches:
- On-demand therapy was initiated in 2000, in the form of plasma-derived C1-INH (pdC1-INH) at a dose of 1500–2000 IU i.v. Since 2011, on-demand therapy options have included 30 mg icatibant s.c. and from 2014 human recombinant C1-INH (rC1-INH) 4200 IU i.v.
- Long-term prophylaxis had the following forms:
- 2001–2014: administration of tranexamic acid
- 2015: rC1-INH as long-term prophylaxis in a clinical study
- 2020: s.c. pdC1-INH 3000, 60 IU/kg twice weekly
- 2021: dose of s.c. pdC1-INH 3000 reduced to 40 IU/kg twice weekly
Treatment Outcomes
As mentioned above, from 2020 to 2021, there was a sharp decrease in the frequency of attacks with the use of s.c. pdC1-INH 3000 twice weekly. From the attending physician’s perspective, the patient enjoys a normal life, engages in sports due to the low frequency of attacks, and has also seen a reduction in body weight. She continues in long-term prophylaxis with s.c. pdC1-INH 3000, 40 IU/kg twice weekly.
Conclusion
In conclusion, Dr. Hakl reminded that HAE is an unpredictable disease with symptoms that widely vary in frequency, location, and severity, even within the same family. Therefore, treatment strategy must be individually tailored for each patient.
Eva Srbová
MeDitorial Editorial Team
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