Janice Strydom, a Hereditary Angioedema (HAE) patient, spent six years in and out of emergency rooms, struggling to find a diagnosis for her recurrent throat swelling and closure. Despite consulting multiple doctors, she couldn’t find the information she needed to manage her condition.

Angioedema is sudden swelling often triggered by an allergic reaction. Hereditary Angioedema is a genetic disorder that causes recurrent, painful episodes where the skin or mucous membranes swell. 

This causes swelling of various body parts, including the hands, feet, face, gastrointestinal tract, throat, and genitals. Swelling in the throat is the most dangerous aspect of HAE, as without correct treatment, it can constrict the airway and lead to death by suffocation.  Swelling in the abdominal wall causes excruciating abdominal pain, nausea, and vomiting.

More support for HAE patients

HAE has a 30% mortality rate and affects 1 in 50,000 people, with 119 cases currently reported in South Africa. Misdiagnosis of rare diseases like HAE can result in fatalities if left untreated.

The launch of the Sinovuyo South African Virtual Angioedema Centre in Cape Town last week finally provides patients like Janice with access to skilled and knowledgeable medical assistance.

The UCT Lung Institute, Allergy & Immunology Unit established the virtual centre, named after Sinovuyo Nkelenjane, a seven-year-old girl who lost her life during an angioedema attack due to the hospital’s lack of proper knowledge to treat her. The centre, which is the first of its kind in Africa and the second in the world, was launched in conjunction with Rare Diseases Month.

Little knowledge about HAE

“I had my first HAE attack when I was 15 years old. I went from doctor to doctor, but they couldn’t find what was wrong with me, and I would end up in an emergency room with my throat swelling closed. The doctors would say, ‘you’ve either been bitten by something or you’ve eaten something that you’re allergic to’. They’d try to treat me with allergy medication, and it wouldn’t work”, says Strydom.

She was finally diagnosed in 1991 when she was 21 years old, but her emotional and physical struggles continued.  Family testing revealed that the disease was passed down from Strydom’s grandmother to her father and then to her brother and herself. Her dad and brother didn’t have attacks very often. In 2017 Strydom’s brother had a very bad throat swell. His throat closed, and he nearly lost his life. He ended up in the hospital, and her sister-in-law googled HAE to find out more.

“When I was first sick, there wasn’t an internet, and there wasn’t information for me to go find, but through the internet, my sister-in-law found a support group in Cape Town. I got a hold of them, and at that time, Professor Jonny Peter, Head of the Allergy & Immunology Unit at the UCT Lung Institute along with Professor Paul Potter – who established the unit – were looking after patients with HAE”, she says. 

A journey to understanding and helping

One of the patients started HAE South Africa, and there were only about 18 patients, making Strydom the 19th. “It was the first time that I met other patients with HAE. I was 47 years old. That was an amazing thing for me because it was the first time in my life that I’d met other people who understood what I was going through”, she says. 

In 2018, Strydom attended the HAE International Conference in Vienna, another turning point in her life.

“There was so much that I didn’t know because there was nowhere for me to find information, so I was unaware of what all the symptoms were, how to get the correct treatment and what my triggers for attacks were”.

Strydom returned to South Africa to help other patients and impart her new-found knowledge. “I got involved in the patient organisation, and at the end of 2019, I resigned from my full-time job, and I started working for HAE South Africa. A year later, I became CEO of HAE SA”.

Can affect all parts of body

According to Prof Peter, angioedema involves fluid that is leaking out of your blood vessels into your tissues which leads to swelling. It happens over a few hours and sometimes over a day.

“Angioedema can affect almost all your body areas, so very commonly the face, lip, tongue, around the eye, your hands, your foot or genitals. If it is on your hands, for example, it is uncomfortable and painful but not life-threatening.

Almost all forms of angioedema will improve even if you don’t treat it. This might take a few hours or a few days. However, some types can affect your larynx (voice box), which, unfortunately, is life-threatening”, he says. 

“Some people don’t know why these attacks are happening, and if you don’t know why then you can’t be prepared, and you can’t treat it appropriately”, he says. 

Genetic forms more common

Prof Peter says the centre provides family member information and education, information on screening, the importance of early diagnosis, information about clinical trials and access to advice from a geneticist. Appointments with an angioedema specialist can be set up through the centre’s online system for a secure video-based consultation.

“The problem is in and amongst that bigger group of patients with allergic angioedema are patients with genetic forms of angioedema (HAE). Unfortunately, those genetic forms are often more severe and more common to be the ones that cause laryngeal (throat) swelling”, he says.

Prof Peter says the treatment for HAE and allergic angioedema is not the same. A lack of awareness can lead to the wrong treatment, and potentially that could lead to your death”, he says.

HAE Symptoms include swelling without itchy hives or exposure to food or medicine and repeated episodes of swelling. “In HAE, the swelling is not always the same in each individual”.

The centre now has over 100 people diagnosed in Cape Town and a few in Gauteng. 

Super excited to share our latest publication in @TheLancet about a phase 2 trial using an investigational oral plasma kallikrein inhibitor for on-demand treatment of #HAE hereditary angioedema. Enjoy reading: https://t.co/Fpi4WsJSVw

— Marcus Maurer (@ProfMaurer) February 10, 2023

HAE patients often treated for allergies

“In the major urban centres, we’ve got cases. We have two cases in KZN. But in some provinces, we expect we will have cases, yet we have none. Because people arrive at emergency units and get treated like they’ve got allergies when they have this rare form of swelling, it’s happening in other parts of Africa too. We find sporadic cases in other countries, but there is a huge underdiagnosis”, he says.

Prof Peter and his team work with Rare Diseases SA and the Allergy Foundation of SA. “The next phase for us is going to be more awareness. So going directly to emergency doctors in Mpumalanga or Polokwane, giving them information, and trying to update them.  – Health- e News