Visits to 30 doctors in 6 years – what it took for South African sufferer of rare illness to get help

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Ayanda Zwane during an episode of hereditary angioedema
Ayanda Zwane during an episode of hereditary angioedema

One day she is fine. The next, her lips and cheeks have massively swollen up. It's as if her entire face has grown five times its normal size and the pain is excruciating.

Some may dismiss it as a severe allergic reaction, but Hereditary Angioedema (HAE), the illness Ayanda Zwane suffers from is a rare life-threatening disease.

Ayanda's illness has a mortality rate of 30% if sufferers don't make it on time to receive medical care. 

16 May marks global awareness day for HAE and sufferers like Ayanda hope to shine a spotlight on the illnesses that is underdiagnosed in SA.

She is one of the just 116 patients diagnosed with the condition in South Africa, and she lost her mom when she was three years old to an HAE attack.

At the time, Ayanda's grandmother didn't know what was happening to her daughter and couldn't get help in time, but with Ayanda she recognised the symptoms her mother had before she passed on. 

WHAT IS HEREDITARY ANGIOEDEMA? 

Sufferers experience pain and swelling in various parts of their body – hands, feet, face and abdomen – and swelling of the throat which can cause suffocation, explains Professor Mike Levin, CEO of the Allergy Foundation of South Africa (AFSA) and head of the division of Paediatric Allergology at UCT.

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"I was 15 when my first attack started," says Janice Strydom, Chairman of HAE SA, who's been living with the condition for 20 years.

"At the time I didn’t recognise that it's the same thing that happened to my grandmother and father. Between the ages of 15 and 21 years old, I went backward and forward with doctors who treated me for allergies and when I had pain in my stomach, they treated me for ulcers," she tells Drum. 

At 21 years old she was finally diagnosed with HAE but "at that stage they knew so little about the disease, I was just given a name and I knew nothing else. I didn’t know the triggers, or what the symptoms were or how to manage it, and I had no medication."

Janice's main concern is for individuals in rural communities who don't have easy access to help on time. "I am fortunate to live 12km away from a hospital but I still struggle to get medical help when I have an emergency."

WHAT CAUSES HAE ?

In most people, it is caused by a gene that produces a protein in the blood called C1-inhibitor. Lack of C1 inhibitor triggers the uncontrolled release of bradykinin which causes fluid from small blood vessels to leak into, and under, the surrounding skin resulting in localized swelling and pain, explains Prof Levin. 

As a hereditary disease, there is 50/50 chance that a parent with the condition can pass it on to their offspring. 

HOW IS IT DIAGNOSED? 

A simple blood test can confirm an HAE diagnosis. But HAE symptoms can also vary within the same person making it difficult for doctors to diagnose.

For example, some women with HAE experience a shift in the frequency of their HAE attacks during various life stages, such as puberty, pregnancy, or menopause. Patients with early-onset HAE tend to be more likely to suffer from a severe course of the disease

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HAE symptoms are also very similar to that of allergies, so patients go to emergency wards or GPs and plenty of doctors don't recognise what it is and patients can pass away due to incorrect treatment.

Janice estimates 1 100 patients in South Africa go undiagnosed. For her, it took six years and a visit to almost 30 doctors to be diagnosed with HAE.

WHAT ARE THE TREATMENT OPTIONS?  

HAE can be successfully managed with effective preventative prophylaxis and on-demand acute treatment. But unlike allergies, HAE doesn't respond to conventional treatments.  

Janice explains that people with HAE experience a significant disease burden and can have a reduced quality of life. 

“Due to pain and other debilitating symptoms of attacks, HAE can impact a person’s ability to carry out daily activities like going to work or school, or participating in leisure and social activities. Untreated HAE patients can lose 100 to 150 workdays per year, if not more.

“Because of this, people with HAE can also experience higher levels of depression and anxiety – exacerbated by the unpredictable nature of attacks, the potential for choking from a throat attack, and not being sure when one will strike.”  

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