Finding the index patient in Jammu, India

Dr Ankur Jindal from Chandigarh in India was the next HAE expert to speak.

In his presentation, he talked about families with HAE in the northernmost state of India, Jammu.

Dr Ankur suggested that HAE is a disease that is grossly underdiagnosed in India and across the Asia-Pacific region. To date, experts have been able to diagnose about 700 patients in India, but they believe there are more than 30,000 patients in the country still to be found. “We have a lot of work to do,” said Dr Ankur.

He spoke to some of the challenges around HAE in India and the Asia-Pacific region. These include:

• Low awareness
• Limited diagnostic facilities
• Availability and access to treatment

Moving on to the families in Jammu, he repeated the positive diagnosis message Dr Longhurst gave. In the patients shown to have died in these families, the only difference was that the deaths were patients who had not been diagnosed with HAE. “If you have a diagnosis of HAE, your risk of dying is very, very lessened,” said Dr Ankur.

The index (or first) case of Dr Ankur’s talk was a 21-year-old woman from Jammu, referred to him during her pregnancy. She, her husband, and her family were worried about symptoms of recurrent angioedema and whether that would be transmitted to the unborn child. She was diagnosed with HAE, but their only concern was to prevent the next generation from being born with the disease. After genetic testing, they chose to terminate the pregnancy. In the second pregnancy, after genetic testing, the child was found not to have HAE.

This young woman was the first. She remarked to Dr Ankur that these symptoms -and so HAE- are very common in their area. People accepted it as part of their lifestyle, but no one was diagnosed or treated.

“How can a rare disease be so common in one particular small area?” thought Dr Ankur, a question he kept returning to. The first concern was supporting these patients, who were reluctant to come to his hospital. Instead, he and a team made the first of 3 field visits to the area to diagnose cases. They diagnosed many patients and found an unusually high proportion of females, something that they still don’t understand. All of them carried the same mutation of the gene.

Despite offering advice on treatment, when they returned, none of the patients were taking treatment. They couldn’t afford medication. They did not understand the severity of the disease, seeing it as just part of their lives. To address this issue, Dr Ankur and his team worked with local doctors in the region to teach them how to manage patients. This helped, but the motivation fell in the following months. On their third trip, they contacted families directly again and were able to support them with medication, including C1-inhibitor for some patients. Dr Ankur told the audience that the area has challenging terrain, bad roads, and high mountains. All of this makes it difficult to get to the hospital.

“There are people who think about you. You might have lost hope. We haven’t.”

Through the help and support of HAE India, Fanny Schappler, and Fiona Wardman from HAEi, Dr Ankur and his team are committed to supporting this particular region. Dr Ankur and his colleagues will persevere to break social stigma and provide more treatment options to give people hope.