Alpha 1 Global

South Africa


Welcome to the South Africa Alpha-1 Antitrypsin Deficiency Page

What is Alpha-1 Antitrypsin Deficiency?

Alpha-1 Antitrypsin Deficiency (Alpha-1) is a hereditary condition that is passed on from parents to their children through genes.  This condition may result in serious lung disease in adults and/or liver disease in infants, children and adults.

Alpha-1 occurs when there is a severe lack of a protein in the blood called alpha-1 antitrypsin (AAT) that is mainly produced by the liver.  The main function of AAT is to protect the lungs from inflammation caused by infection and inhaled irritants such as tobacco smoke.  The low level of AAT in the blood occurs because the AAT is abnormal and cannot be released from the liver at the normal rate.  This leads to a build up of abnormal AAT in the liver that can cause liver disease.

Respiratory symptoms caused by AAT

  • Shortness of breath
  • Wheezing
  • Persistent chronic cough and sputum
  • Repeated respiratory infections
  • Recurring chest colds
  • Reduction in exercise capacity

Liver Symptoms caused by AAT

  • Unexplained elevations of liver enzymes
  • Jaundice of skin and eyes
  • Swelling of the abdomen
  • Hematemesis

AAT deficiency can be diagnosed by a simple blood test!

For more information about AAT, contact:

Associate Professor Richard van Zyl-Smit
Richard.vanzyl-smit@uct.ac.za
+27 21 406 6125 / 6924
University of Cape Town Lung Institute (Pty)Ltd


Welkom by die Suid-Afrikaanse Alfa-1 Antitripsiengebrek Webblad

Wat is Alfa-1 Antitripsiengebrek?

Alfa-1 Antitripsiengebrek (Alfa-1) is ‘n oorerflike siekte toestand wat geneties deur ouers  na hul kinders oorgedra word. Die kondisie kan ernstige longsiekte in volwassenes en/of lewersiekte in babas, kinders en volwassenes veroorsaak.

Alfa-1 kom voor  wanneer daar ‘n ernstige gebrek aan ‘n proteine genaamd alfa-1 antitripsien (AAT) in die bloedstroom is.  AAT word hoofsaaklik deur die lewer vervaardig. AAT se belangrikste funksie is om die longe te beskerm teen inflammasie wat veroorsaak word deur infeksie en inaseming van stowwe soos tabak rook wat die longe kan irriteer.   Die lae vlakke van AAT in die bloedstroom kom voor wanneer die AAT  nie teen die normale  tempo deur die lewer vrygestel word nie. Dit lei tot die opeenhoping van  AAT in die lewer wat lewersiekte kan veroorsaak.

Respiratoriese simptome veroorsaak deur AAT

  • Asemtekort of benoudheid
  • Gefluit van die bors
  • Aanhoudende kroniese hoes en slym
  • Herhaaldelike lugweg infeksies
  • Herhaaldelike borsverkoues
  • Vermindering in oefening kapasiteit

Lewersimptome veroorsaak deur AAT

  • Onverklaarbare verhoging van lewerensieme
  • Geelsug van die vel en oë
  • Buikswelling
  • Hematemese

AAT gebrek kan deur ‘n eenvoudige bloedtoets gediagnoseer word!

 Vir meer inligting oor AAT, kontak gerus:

Associate Professor Richard van Zyl-Smit
Richard.vanzyl-smit@uct.ac.za
+27 21 406 6125 / 6924
University of Cape Town Lung Institute (Pty)Ltd

 

Access to care

Are free Alpha-1 tests available?   Nosouth-africa

Are Alpha-1 serum level tests available?   Yes

Are Alpha-1 genotyping tests available?   Yes

Are Alpha-1 phenotyping or pi-typing tests available?   Yes

Is augmentation therapy available?   No

Which augmentation therapy products are available?   Glassia; only available via a section 21 application but no medical insurance cover

How is Alpha-1 augmentation therapy administered?  In any medical facility (typically doctor’s premise) 

How is augmentation therapy reimbursed?   Not reimbursed

Are Alpha-1 specialists or care treatment centers available?   Available

Is supplemental oxygen available?   Available

Are respiratory medications available?   Available

Is pulmonary rehabilitation available?   Available

Is Genetic counseling available by a trained counselor?   Not known

Does your country have an Alpha-1 patient registered charity or NGO (non-government organisation)?  No

The following imaging tests are available to Alpha-1 patients:   CT imaging, liver ultrasound, liver fibroscan, liver biopsy

Does your country have a national Alpha-1 registry?  No

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