The University of Cape Town’s Lung Institute, Allergy & Immunology Unit has launched the Sinovuyo South African Virtual Angioedema Centre, the first of its kind in Africa, and the second in the world, to provide sufferers with access to skilled and knowledgeable medical assistance.
Named after Sinovuyo Nkelenjane, a seven-year-old girl who died during an angioedema attack due to the hospital’s lack of proper knowledge to treat her, the centre was launched in conjunction with Rare Diseases Month, reports Health-e News.
Angioedema is sudden swelling often triggered by an allergic reaction. Hereditary angioedema is a genetic disorder causing 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.
More support for HAE patients
HAE has a 30% mortality rate and affects one 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.
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.
The launch of the Cape Town centre will finally provide patients like her with access to skilled and knowledgeable medical assistance.
Strydom had her first HAE attack when she was 15, but doctors couldn’t find what was wrong with her. “I would end up in an emergency room with my throat swelling closed. The doctors would try to treat me with allergy medication, and it wouldn’t work,” she said.
She was finally diagnosed in 1991 when she was 21, but her emotional and physical struggles continued. Family testing revealed that the disease was passed down from her grandmother to her father and then to her brother and herself.
Her dad and brother didn’t have attacks very often. In 2017, her brother had a very bad throat swell and nearly died. He ended up in the hospital, and her sister-in-law googled HAE to find out more.
“When I was first sick, there was no internet, and nowhere to find information, but online, my sister-in-law found a support group in Cape Town. I contacted 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 had started HAE South Africa, and there were only about 18 members of the group, making Strydom the 19th. “I was 47, and it was the first time I had met other patients with HAE, who understood what I was going through.”
In 2018, she attended the HAE International Conference in Vienna, and 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, resigned from my job and started working for HAE South Africa. A year later, I became CEO of HAE SA.”
Can affect all parts of body
Angioedema involves fluid 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,” said Peter. “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 not treated, but could take a few hours or a few days. However, some types can affect your larynx (voice box), which, unfortunately, is life-threatening, he added.
Peter said the centre provides families with information and education, stressing the importance of early diagnosis, information about clinical trials, and access to advice from a geneticist. Appointments with an angioedema specialist can be arranged through the centre’s online system for a secure video-based consultation.
“The biggest group of patients are those with the genetic form of angioedema (HAE),” he said, “and unfortunately, those are often more severe and more commonly the forms that cause laryngeal (throat) swelling.”
The treatments for HAE and allergic angioedema are not the same, and he warned that ignorance could lead to the wrong treatment, and potentially, to death.
The centre now has more than 100 people diagnosed in Cape Town and a few in Gauteng and KZN.
“There are no doubt other provinces with undetected or misdiagnosed cases, because people arrive at emergency units and get treated for allergies when they exhibit this rare form of swelling. It’s happening in other parts of Africa too. There are sporadic cases in other countries, but generally, we know there is a huge under-diagnosis.”
He and his team work with Rare Diseases SA and the Allergy Foundation of SA, and on their agenda is an awareness campaign, “so going directly to emergency doctors in Mpumalanga or Polokwane, giving them information, and trying to update them”.
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