The Oxford Handbook of Clinical Medicine has become a sort of bible for medical students around the world. It is brilliant in its succinct summary of the various ailments it is obliged to cover, but it also has an acerbic form of humor and a touch of tenderness that arise seemingly out of nowhere and retreat just as immediately. 

In one section on diabetes, I remember reading a poem written by an individual who lost a leg and lamented all the things he could no longer do—things he once took for granted like running down a hill. 

The short poem was pointed in its effect: it made the idea of diabetic limb amputation human, and for a moment, we were invited to imagine how drastically life can change for our patients. The amputee would never again be able to run, dance, climb a flight of stairs—at least not with the ease he had before. 


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It is important to remember that many of the diseases we cover at Rare Disease Advisor do not have a cure, meaning that the best we can do for those we treat is to try to alleviate suffering and extend survival. It is often a huge mental adjustment for patients to realize that for the foreseeable future, they simply must live with their disease and its consequences. 

Hereditary angioedema is characterized by recurrent edema attacks that typically affect the skin, upper respiratory tract, and gastrointestinal tract. The most dangerous form of this swelling occurs in the upper airways and deprives an individual of oxygen, causing them to die from asphyxiation. 

“Given the hereditary nature of the disease and the likelihood that their ancestors had succumbed to a similar fate (ie, asphyxiation induced by laryngeal swelling), patients may live in constant fear of the attacks getting worse and of not being able to breathe,” Savarese and colleagues write in Allergy and Asthma Proceedings. 

Psychological Burden of Hereditary Angioedema 

Much of hereditary angioedema care is focused on preventing future attacks and resolving them quickly when they do occur, as the likelihood of death by asphyxiation is a horrendous prospect. 

The disease can be unpredictable in nature. We understand that hereditary angioedema results in acute attacks that can be resolved via medical attention. However, not being able to predict when an attack can occur has psychological costs, as patients live in a constant state of anxiety between attacks. 

An edema attack can be brought on by a number of factors, including infection, psychological stress, physical exertion, certain medical procedures, menstruation, complications from certain medications, and more. Patients suffer from uncertainty on 2 fronts: when an attack will occur and the severity of said attack. 

Read more about hereditary angioedema etiology

Savarese and colleagues conducted a systematic review to understand emotional and other stress factors that may trigger attacks in patients with hereditary angioedema. They searched for peer-reviewed studies written in English from December 2019 and earlier. All journals dealing with the psychological aspects of hereditary angioedema were reviewed. 

The research team found 17 studies that explicitly examined the psychological toll of hereditary angioedema. These studies included observational case-control studies, literature reviews, and mixed-methods research designs. 

One of the findings was the high prevalence of anxiety and depression among patients and family caregivers. These psychological experiences are worse when patients report suffering from a poorer quality of life. In addition, individuals discuss how living with this disease affects their decision on whether to have children. As always, the unpredictability of having an attack represents a massive psychological hurdle for patients with hereditary angioedema. 

Another finding from this study was that the life-threatening nature of the disease meant it was vital that patients and their families were instructed on how to recognize the first signs of laryngeal edema and how to treat it medically. Fortunately, there is usually enough time from the first signs of a laryngeal attack until asphyxiation occurs for appropriate medical attention to be administered. 

Having to be on guard and ready to save your own or a loved one’s life at any moment is a huge stressor. According to Savarese et al, “However, the diagnostic phase could be slow and painful. The feelings of uncertainty combined with the attacks themselves and the dependence on medication, furthermore, could generate stress and add strain around family adaptation.” 

Treatment Options 

Zarnowski and colleagues investigated the effects of prophylactic treatment on the levels of anxiety in a group of German patients with hereditary angioedema. The study was published in the International Archives of Allergy and Immunology. 

They discovered, unsurprisingly, that patients receiving long-term prophylactic care demonstrate significantly better disease control and quality of life compared with patients who received on-demand treatment. This translated to lower scores for anxiety and depression. 

Read more about hereditary angioedema treatments

“In conclusion, anxiety was a frequent burden in our study group and was significantly associated with low disease control,” the authors wrote. 

It certainly makes sense that patients on prophylactic care will have less stress and anxiety if they feel that their medication will prevent a life-threatening attack as opposed to patients who only have acute medication to treat attacks as they occur.

Despite the therapeutic advancements we have made in hereditary angioedema care today, the seeming randomness of attacks and their fluctuating severity are key concerns that patients express. To promote a sense of stability and security, new therapies need to adequately address these inadequacies. 

References

Savarese L, Mormile I, Bova M, et al. Psychology and hereditary angioedema: a systematic reviewAllergy Asthma Proc. 2021;42(1):e1-e7. doi:10.2500/aap.2021.42.200073

Zarnowski J, Rabe M, Kage P, Simon JC, Treudler R. Prophylactic treatment in hereditary angioedema is associated with reduced anxiety in patients in Leipzig, GermanyInt Arch Allergy Immunol. 2021;182(9):819-826. doi:10.1159/000514973