Funded by and developed in collaboration with Chiesi Global Rare Diseases

Professor Roser Torra gives her personal views on care pathways in Fabry disease and the importance of doctors and patients making decisions together

By Geoff Case, RARE Revolution Magazine

An interview with Professor Roser Torra, consultant at Fundacio Puigvert, professor of nephrology at Universitat Autónoma de Barcelona and president-elect of European Renal Association (ERA)

Conversations around care pathways are “extremely important” in Fabry disease for two main reasons, Professor Roser Torra explains.

First, based on her experience, she believes that it is really important to help young people understand the role their prescribed treatments can play in managing their disease as well as the importance of adhering to that treatment.

Second, Roser believes that older adults who do not have apparent symptoms (females or people with late-onset disease) may not fully understand that they have a serious condition, even if their heart or kidneys are not working properly, because they are not feeling symptoms. The challenge in this case, she says, is helping people to understand that they have a serious condition that may benefit from treatments to prevent and/or reduce symptoms of organ damage.

In Roser’s experience, people who have a relative with the disease tend to understand the situation better because then they have a “mirror” to look at, which shows how the disease might affect them. Unfortunately, however, there is no “crystal ball” to give certainty about the likely course of a person’s disease, with or without treatments. Conversations about treatments depend on the trust between the patient and the physician, she says.

It is vital that people understand the potential benefit that treatments can bring, but they must also have realistic expectations of them. “Unfortunately, with the treatments we have nowadays, when we start, patients may already have severe organ damage,” she says. “It’s really important to manage their expectations about the potential benefits and risks of treatments and have transparent discussions about what impact treatments may have on their diseases and its progression. Without this, when you tell patients their kidney has worsened, their heart wall has not reduced, this is a big burden for them.”

In Roser’s opinion, the varied signs and symptoms of Fabry disease that people experience can make it hard for patients to understand how treatments are helping them. She explains that, unfortunately, there is a lack of suitable biomarkers to monitor whether specific organ damage is improving or deteriorating. Patients may be told that their condition is stable, based on lab tests and imaging of the kidney and heart, but still experience other symptoms unrelated to those organs, such as lymphoedema (fluid accumulating in body tissue), gastrointestinal (GI) symptoms, absence of sweating or pain.

It can be “so frustrating” for patients to see such symptoms persist, Roser explains, giving examples from her experience: “The effect of treatments on lymphoedema is extremely low. Although this is not a frequent symptom, some males with classic Fabry disease have it, and it may seriously affect their quality of life… We also have the young ones who experience pain or gastrointestinal symptoms, and treatment may improve that, but in some cases, symptoms might persist.”

Sometimes, too, when people have other conditions, or develop them as they get older, they do not realise that symptoms from these will not be addressed by treatments for Fabry disease.

Roser believes that physicians need to be sure to take patients’ frustration about their symptoms into account: “Patients say, ‘I’m taking a drug and nothing seems to be improving. And we tell them that it’s important to continue treatment. And this is a conversation that must go on and on.”

Roser recommends that physicians must also emphasise the importance of healthy living within the conversations about care they have with their patients. It is empowering, she believes, for people to hear that a significant part of their health is in their hands, “not smoking, not taking drugs, abstaining from or limiting alcohol, eating good food, taking exercise… it makes such a difference to have a condition plus the consequences of an unhealthy life”. She believes that, in many cases, those consequences can be worse than the disease itself, or at least increase the chances of a bad outcome. Therapy also has a role to play, she says, because how somebody handles their chronic disease can make a “huge difference” to them, especially in respect of handling pain—an “extremely complicated” challenge.

The conversations around care in Fabry disease are complex, with a great deal of information that physicians need to share with patients, and these need to evolve in lockstep with the evolving landscape for Fabry disease.

Roser is hopeful about the future, but for now, she believes the focus must be on energetic awareness raising about the disease so that patients can promptly begin an appropriate care pathway.

Roser’s final word on the importance of conversations between doctors and their patients about care pathways is on the topic of screening. She believes that a diagnosis should lead to screening to search for other family members who may be less affected and who are living unknowingly with the disease. In her opinion, they need to be included within conversations about the disease so that they know of their chances of developing serious symptoms of organ involvement and can make informed decisions about their care pathway.

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Content developed by RARE Revolution Magazine in collaboration with Chiesi Global Rare Diseases (GRD). All opinions are those of the contributor. RARE Revolution Magazine retains all copyright.

UK-CHI-2300758 January 2024

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