Doctors often misdiagnose HAE, a potentially lethal condition, and expats have limited access to effective medication
One man's battle to improve quality of life for sufferers of swelling disease
For 25 years, Rashad Matraji could not find an explanation or treatment for his unusual condition, which causes his limbs and organs to swell up to three times their usual size.
“I inherited the condition from my father and grandfather before him. No one knew what I had. Doctors would diagnose randomly, but no one could find a cure,” said the 34-year-old Lebanese expat.
“I even had my appendix unnecessarily removed a few years ago. But I always knew there must be a treatment and I vowed to find it.”
The edema, or swelling attack, occurs in different body parts each time and usually once or twice a month. It can be triggered by stress, hormonal changes or a minor injury.
“If you hit your hand against a table, it could become red for a while, but for me that triggers an attack and my hand would grow to three times its size.”
“If it was my right hand, I wouldn’t be able to write anymore. If the attack hit my foot, I would walk with a limp,” said the industrial engineer.
After what he described as the most upsetting attack he has experienced, Mr Matraji became determined to find out what he is suffering from, and find a way to stop it. He said: “I was in London in 2008 for a training course and the attack hit my face. I could not skip the course because my company had already paid for it.”
The episode lasted for four days, throughout the duration of his trip, “it took days to swell to its maximum, and two days to deflate. Instead of enjoying my time I was traumatised; I could not talk properly and I could not eat or drink because my lips were massively enlarged.”
“At that time I did not know of HAE and that there were people who could help me.”
It was not until he did some research online that he discovered his troubles could be the result of HAE, or hereditary angioedema, a potentially life-threatening genetic condition.
The condition is a result of a defect in a blood protein called C1 inhibitor. The dysfunction causes a biochemical imbalance that makes the tissue around an organ swell, and if an edema hits the airway, it can be lethal.
“When I suffered abdominal attacks, the swelling put pressure on my intestines, which caused temporary diarrhoea and I would start throwing up the acid released by my stomach.”
“When I would have these episodes, described to be as painful as labour pain by mothers who have HAE, I could not do anything. I would lie down and wait for the pain to pass, which takes more than 24 hours.”
He also discovered medication that could stop the swelling, however, it is not easily covered by insurance companies. While UAE nationals could still acquire them through public hospitals, expats are required to place a special order with the supplier and request their insurance company to cover it each time via a specialised physician.
Mr Matraji made it his mission to make the medication as accessible as possible to patients in the region and to educate both doctors and patients about the condition. In 2010, he became the advocate for HAEi, the International Patient Organisation for C1 Inhibitor Deficiencies, in the Middle East and North Africa.
There are no accurate records for the number of patients in the region who suffer from the condition as countries keep no registry of cases, except for Iran, which has 55 cases. Mr Matraji personally knows of five sufferers in the UAE, about a 100 cases in Saudi Arabia, three in Oman, three in Kuwait, one in Bahrain, six in Lebanon, and five in Qatar, who plan to start their own registry soon.
As occurrence rates of HAE are typically one in 10,000 to 50,000 people, very few doctors in the region are aware of it and patients are seldom diagnosed.
Dr Ravi Gutta, an American Board certified consultant of allergy and immunology at Mediclinic City Hospital, said HAE is often missed and there can be up to an eight-year delay by physicians to diagnose it. He says he has come across 12 HAE patients in the UAE.
“The greatest challenge in the region is awareness of HAE in physicians and emergency doctors and awareness of medications and insurance coverage.
“I have been trying my level best to convince insurance companies to approve Berinert (an FDA-approved treatment for acute HAE abdominal or facial attacks) for patients as it can be life saving if a laryngeal attack happens,” he said.
Fifty per cent of HAE patients will probably have such an attack in their lifetime.
Upon becoming an advocate, Mr Matraji contacted three pharmaceutical companies to ask about importing the medicine in to the UAE, but only CSL Behring, which supplies Berinert, was successful.
He organised a number of regional conferences between doctors, patients and experts in the field to spread awareness and make the medicine “accessible in a normal manner”.
“The medicine is not available in a normal way, and sometimes we are cut off for three months until the order arrives,” he said.
“My mission is for everyone with HAE to have access to medication, because it is possible for us to live a normal life. The solution is out there.”
He also co-ordinates with physicians in the region, such as Dr Gutta, who listed Mediclinic City Hospital as a centre for HAE in the UAE. Dr Gutta also created an emergency department to fast track treatment for HAE patients.
One shot of Berinert, however, costs more than Dh3,000, and a patient needs a number of shots depending on their weight and the severity of their case. Now the challenge is to have the medicine entirely covered by insurance companies.