What is the current status of Andrade, the disease endemic to Mallorca?

Palm"I had to go on a trip and my heart stopped," explains Aina Ramis. She is 57 years old and has been living with transthyretin amyloidosis, known as Andrade's disease, for over two decades. And that's what happened in her case. She has lost her vision and uses a pacemaker. Andrade's disease, and that approximately half have symptoms. There are more cases in Mallorca, and in fact, nearly 33% of cases in Spain are on that island, where the disease is considered endemic.

Andrade's disease arises from a genetic abnormality in which the protein is transthyretin. It mainly affects the nerves and the heart, but it can damage any part. Vicente Peral, head of the Cardiology Department at Son Espases Hospital, explains that, due to the nature of the heart, the damage is more complex. "The protein is deposited in the heart, which enlarges. The president of the Balearic Association for Andrade's Disease (ABEA) was diagnosed with the condition in 2016, when she was 33 years old. "I know I have limiting symptoms, but I also have a pretty full life. I used to like taking long trips, but now I don't, because my house is my safe place," she explains. Going to public spaces is also a stressful time because she needs a bathroom nearby.

Ramis began experiencing symptoms 23 years ago, and 20 years ago she had a liver transplant. From that moment on, her quality of life improved, until three or four years ago, when the deterioration began to worsen, she laments. Despite having limitations, she faces day-to-day life with energy. "When I'm well, I do Pilates, I try to eat healthy, and do things that give me peace, because I have what I have."

The president of the Spanish Amyloidosis Association (Amilo), Mari Carmen Nadal, is also from Mallorca. The organization is dedicated to raising awareness of all types of amyloidosis, not just transthyretin, and Nadal is pinning her hopes on clinical trials for new drugs that will improve the lives of patients. "Previously, it was thought to be a problem for older people, but it's now clear that it affects young people, and everyone is interested in holding workshops in their autonomous communities. There's a desire for research, and now the important thing is for people to be diagnosed more and treated earlier," she notes.

So, why are there so many cases of Andrade's disease in Mallorca? It has always been said that the disease arrived via Portuguese sailors in the 16th century, through genetic transmission due to migration. A pioneering study by the specialized unit at Son Llàtzer and the Health Genomics Group at Idisba has provided data that challenges this theory. "In 93% of carriers of the V30M mutation in the Balearic Islands, it appears combined with another genetic variant, G6S, on the same chromosome. This high occurrence suggests a common origin within the Balearic population itself, which points to a local founder effect and largely refutes the hypothesis. Thus, the study reinforces the idea that Mallorca is not only an endemic focus of the disease, but also suggests a different origin than that of the Portuguese.

Years ago, mortality linked to Andrade was high, but medical advances invite optimism. There are already four drugs that can slow the course of the disease and there are more in clinical trials. In addition, research is being done into genetic editing. Patients celebrate that the disease is becoming better known and that, despite being a minority, a lot of time is being dedicated to it. "Research is life," says Ramis.