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GARDEN ROUTE | KAROO NEWS AND VIDEO'S - A life-threatening genetic disorder, Hereditary Angioedema (HAE) is believed to affect many South Africans who are living with this disease but are undiagnosed. 

This means they are suffering unnecessarily, and even at the risk of death.

Janice Strydom, Chairman of HAE SA, says that there are only 104 people diagnosed with HAE in South Africa, although with a global incidence of 1 in 50 000, it means there are many more out there who remain undiagnosed.

“We are committed to raising awareness around HAE and locating those people, to provide them with the knowledge and care they need. We do not want to see another South African with HAE lose their life because they are unaware or unable to access suitable treatment.”

Knowledge is essential to avoid misdiagnosis and even death

Sadly, due to a lack of awareness and misdiagnosis, it can take many years to recognize and diagnose HAE in a patient. Many doctors aren’t familiar with HAE symptoms, which may be similar to those of other common illnesses as well as allergies. 

This often leads to an incorrect diagnosis and consequently the wrong treatment. In some cases, patients have died due to a lack of correct treatment because doctors were unaware of the underlying cause of the problem.

What is HAE?

Professor Mike Levin, CEO of the Allergy Foundation of South Africa (AFSA) and head of the division of Paediatric Allergology at UCT, explains that HAE causes sufferers to experience recurrent, painful episodes of swelling of the skin or mucous membranes. 

This results in swelling of various parts of the body, including the hands, feet, face, gastrointestinal tract, and throat.

“Swelling in the throat is the most dangerous aspect of HAE because the airway can become constricted and, without treatment, can cause death by suffocation. Swelling in the abdomen and intestinal wall causes excruciating abdominal pain, nausea, vomiting, and/or diarrhoea.”

What causes HAE?

“Most people with HAE have a problem with 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.

HAE symptoms, and why they can baffle doctors

According to Professor Jonny Peter, head of the Allergy and Immunology Unit at Groote Schuur and Head of Allergology and Clinical Immunology at UCT, HAE symptoms can differ from person to person. 

This means that one person with HAE could experience symptoms with greater severity and frequency, or in different locations, than someone else. As mentioned above, common symptoms include unexplained swelling in different parts of the body, most often in the abdomen, face, feet, genitals, hands or throat.

“HAE symptoms can also vary within the same person. 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.”

Strydom, who lives with HAE herself, explains that people with HAE experience a significant disease burden and can have a reduced quality of life if the symptoms are not recognized and managed. 

“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.”

Triggers of an HAE attack

“In both children and adults, most HAE attacks occur without any warning,” says Prof Peter. “Yet some patients have been able to identify triggers that seem to set off their attacks. 

These triggers can vary from person to person and can be particularly difficult for children to identify or describe to their caregivers, such as:

• Emotional stress
• Injury
• Infection
• Dental or medical procedures
• Hormonal influences, like menstruation
• Mechanical pressure from physical activities, like typing or mowing the lawn

 “It’s important to recognize what types of activities and situations may lead to your or your child’s attacks. Keeping a journal of these episodes may improve communication of symptoms and triggers for your doctor.”

HAE treatment

Thankfully, a simple blood test can confirm an HAE diagnosis and HAE can be successfully managed with effective preventative (prophylaxis) and on-demand (acute) treatment.

SUPPLIED VIDEO - Neil Kinsley (HAE South Africa):

SUPPLIED VIDEO - HAE Day 2022 (HAE South Africa):

Photos: Supplied

You can learn more about HAE at https://haei.org/hae/faq/ or visit www.haei.org/southafrica. Follow HAE SA at www.facebook.com/haesouthafrica or on Instagram at @hae_southafrica. For further information and support contact Janice Strydom at haeadvocacysa@gmail.com or call 083 309 3569.

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AFRIKAANSE WEERGAWE:

TUINROETE | KAROO NUUS - ’n Lewensgevaarlike genetiese afwyking, oorerflike angioedeem (HAE) affekteer glo verskeie Suid-Afrikaners wat ongediagnoseerd met die siekte saamleef. Dit beteken hulle ly onnodig en loop die risiko om te sterf.

Janice Strydom, voorsitter van HAE SA, sê daar is slegs 104 in Suid-Afrika wat met HAE gediagnoseer is, en aangesien dit wêreldwyd 1 in 50 000 mense affekteer, beteken dit dat daar baie ongediagnoseerde mense in Suid-Afrika is. 

“Ons is toegewyd om bewusmaking vir HAE te skep en diegene wat daaraan ly op te spoor om hulle sodoende van die nodige kennis en sorg te voorsien. Ons wil nie sien hoe nóg ’n Suid-Afrikaner met HAE hul lewe verloor omdat hulle onbewus is of nie toegang tot voldoende behandeling het nie.”

Kennis is deurslaggewend om ’n verkeerde diagnose en selfs die dood te vermy

Weens ’n gebrek aan bewustheid en verkeerde diagnoses, kan dit jare neem om HAE in ’n pasiënt raak te sien en te diagnoseer. 

Baie dokters is nie vertroud met HAE-simptome nie, wat soortgelyk aan ander algemene siektes en allergieë is. Dit lei dikwels tot ’n verkeerde diagnose en gevolglik tot die verkeerde behandeling. 

In sommige gevalle het pasiënte gesterf weens ’n gebrek aan die geskikte behandeling omdat dokters onbewus van die probleem se onderliggende oorsaak was.

Wat is HAE?

Prof. Mike Levin, hoofuitvoerende beampte van die Suid-Afrikaanse Allergiestigting (AFSA) en hoof van die pediatriese allergoloog-afdeling aan die Universiteit van Kaapstad, verduidelik dat HAE-lyers herhaalde, pynlike gevalle ervaar waar hul vel of slymvliese swel. 

Dit veroorsaak swelling in verskeie dele van die liggaam, insluitend die hande, voete, gesig, spysverteringskanaal en keel.

“Swelling in die keel is die gevaarlikste aspek van HAE omdat die lugweg vernou en, sonder behandeling, kan die persoon versmoor en sterf. Swelling in die buik en dermwand veroorsaak ondraaglike maagpyn, naarheid, braking en/of diarree.”

Wat veroorsaak HAE?

“Meeste mense met HAE het ’n probleem met ’n geen wat ’n proteïen in hul bloed, genaamd C1-inhibeerder, veroorsaak. ’n Gebrek aan C1-inhibeerder veroorsaak die onbeheerste vrystelling van bradykinien, wat veroorsaak dat vloeistof vanuit klein bloedvate in en onder die omliggende vel lek, wat lokale swelling en pyn veroorsaak,” verduidelik Prof. Levin.

HAE-simptome en waarom dit dokters kan verbyster

Volgens prof. Jonny Peter, hoof van Groote Schuur Hospitaal se Allergie- en Immunologie-eenheid en hoof van allergologie en kliniese immunologie aan die Universiteit van Kaapstad, kan HAE-simptome van persoon tot persoon verskil. Dit beteken dat een persoon met HAE ernstiger en gereelder simptome in ander plekke as iemand anders kan ervaar. Soos hierbo genoem sluit algemene simptome onverklaarbare swelling in verskeie dele van die liggaam in, wat die algemeenste in die buik, gesig, voete, geslagsdele, hande of keel voorkom.

“HAE-simptome kan ook in ’n persoon wissel. Byvoorbeeld, sommige vroue met HAE ervaar dat die gereeldheid van hul HAE-aanvalle wissel tydens verskeie lewensfases, soos puberteit, swangerskap of menopouse. Pasiënte met vroeë-aanslag HAE is meer geneig om aan ’n ernstiger weergawe van die siekte te ly.”

Strydom, wat self met HAE leef, verduidelik dat mense met HAE ’n beduidende las dra en dat hul lewenskwaliteit kan afneem as die simptome nie herken of bestuur word nie. 

“Weens die aanvalle se pyn en ander verlammende simptome, kan HAE ’n persoon se vermoë om daaglikse aktiwiteite te verrig, soos werk, skool en sosiale aktiwiteite, negatief beïnvloed. Pasiënte met onbehandelde HAE kan 100 tot 150 werksdae per jaar verloor, indien nie meer nie.”

“As gevolg hiervan kan mense met HAE ook hoër vlakke van depressie en angs ervaar, wat verhoog word deur aanvalle se onvoorspelbare aard, die moontlikheid om weens ’n keelaanval te verstik en die onsekerheid oor wanneer ’n aanval gaan plaasvind.”

Wat veroorsaak ’n HAE-aanval

“In kinders en volwassenes vind meeste HAE-aanvalle sonder waarskuwing plaas,” sê prof. Peter. “Tog het sommige pasiënte oorsake geïdentifiseer wat hul aanvalle veroorsaak. Hierdie oorsake kan wissel van persoon tot persoon en kan veral vir kinders moeilik wees om te identifiseer of aan hul versorgers te beskryf, soos:

• Emosionele spanning
• Besering
• Infeksie
• Tandarts of mediese prosedures
• Hormonale oorsake, soos menstruasie
• Meganiese druk van fisiese aktiwiteite, soos tik of gras sny

 “Dis belangrik om die tipe aktiwiteite en situasies, wat tot jou of jou kind se aanvalle lei, te identifiseer. Deur jou simptome en oorsake neer te skryf wanneer dit gebeur, kan jy dit beter aan jou dokter oordra.”

HAE-behandeling

Gelukkig kan ’n bloedtoets HAE diagnoseer en HAE kan suksesvol voorkomend (profilakse) en op aanvraag (akuut) behandel word.

Jy kan meer oor HAE leer op https://haei.org/hae/faq/ of besoek www.haei.org/southafrica. Volg HAE SA op www.facebook.com/haesouthafrica of op Instagram @hae_southafrica. 

Vir meer inligting en ondersteuning kontak Janice Strydom op haeadvocacysa@gmail.com of skakel 083 309 3569.
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