OIers are frequently recommended to lose weight, but no indications or information on the nutritional status in OI are provided. Patients and families, therefore, end up with following a “do-it-yourself” diet, sometimes eating a lot of dairy products with the wrong idea to strengthen the bones and reduce the fractures incidence.

Interview with Antonella Lo Mauro & Leonardo Panzeri (As.It.OI)

In February 2019 we started the project called “EAT, BREATHE, SLEEP with OI”. The aim of the project was to try to break the dangerous vicious circle, ensued by the pathophysiology of OI, in which breathing, sleep and body composition are tightly linked, and they can all negatively affect the quality of life in OI patients. The collection of data is now over, and we are analysing the data. Unfortunately, we had to stop the collection of data earlier than planned in March 2020 because of Covid-19 lockdown. But 27 Adult OI patients were seen before and after 6 months of a tailored dietary regime. The project is co-financed between As.It.OI and Care4BrittleBones.

Tell us about the project!

Antonella: The idea popped up in September 2016, while attending the ‘Soft Tissues & Soft Issues’ event in Oslo. During a dinner, one OI participant reported his personal experience on how his quality of life had worsened in just one year only because he gained weight. He was strongly impressed by the positive impact of non-invasive nocturnal ventilation on daytime life.

Later during the same evening, Leonardo underlined that OIers are frequently recommended to lose weight, but no indications or information on the nutritional status in OI are provided. Patients and families, therefore, end up with following a “do-it-yourself” diet, sometimes eating a lot of dairy products with the wrong idea to strengthen the bones and reduce the fractures incidence.

I immediately understood that it was definitely time to study and control the nutritional status in OI patients, together with breathing (my personal field of research) and sleep. I proposed this idea to Leonardo and As.It.OI and they agreed enthusiastically and accepted to help me in this adventure. Once home I involved Ramona and her group, thanks to a previous productive collaboration we had together for another disease. Leonardo then suggested me to involve Dr. Landoni for the sleep study. The collaborators therefore are: Politecnico di Milano for the breathing part, ICANS of the University of Milan for the nutritional part and Villa Beretta Rehabilitation Center for the sleep part.

Leonardo: I saw too many adult OIers dedicating much more energy to the career, to the family and to the hobbies rather than to their body. In adulthood, the incidence of fractures is reduced and the acquired autonomies are generally enough for a sufficient independent life. For this reason, OIers tend to reduce or skip physiotherapy and/or physical activity while eating more and therefore gaining weight. Some overweight OIers try “do-it-yourself” diet with no results and they often complain about bad quality sleep and/or morning fatigue.

Ramona: In my clinical and research activity I have always been working on dietary management and and nutritional evaluation of patients suffering from rare diseases and I had the pleasure to collaborate with Antonella. So she asked me to take part at a conference of As.It.OI and in that occasion I met Leonardo and all together during the gala dinner we started with a productive brainstorming about what was missing and what we could do to implement the quality of life in OIers.

What can we do to prevent obesity for people with OI?

Patients with OI tend to become frequently overweight or even obese due to their reduced height and physical inactivity. In turn, the reduced muscle mass and strength, due to limited motor skills, correlate with an increased risk of fractures and daily fatigue, thus limiting even more the daytime activity of these patients. These clinical features can have a significant impact on quality of life and are linked to psychosocial implications that are also reflected in inappropriate calory intake and poor dietary quality. It is therefore necessary to evaluate the nutritional status and body composition of OIers to allow the development of a personalized dietary plan. We need to educate people with OI, together with families and caregivers, on what the modifiable risk factors are, such as: vitamin D supplementation, improvement of dietary quality in terms of macro and micronutrients, exposure to the sun and weight loss in case of overweight and obesity, reduction of sedentariness, also to enhance the efficacy of their pharmacological and physical therapies.

Why is it so important to have a healthy weight?

Reaching and maintaining a healthy weight is important for overall health and can help to prevent and control many comorbidities. Overweight and obesity in OI patients is a condition of having a high amount of extra body fat. Adipose tissue, especially in the abdomen, seems to be a risk factor for low bone mineral density and fractures. In addition, nutritional status can also affect respiratory function, often problematic in patients with OI, especially in adulthood, due to reduced muscle mass as well as postural alteration. In particular, malnutrition, both defective and excessive, can adversely affect lung function. The adverse effects of malnutrition include decreased ventilation and reduced respiratory muscle function. Therefore, nutritional assessment should be part of OI management.

What is the patient organization’s role compared to the professionals?

First, communication. Second, economical and organizational support. Third, relationship with experts. As.It.O.I. in Italy is the connection between scientific projects and OIers who would otherwise be alone. For “EAT, BREATHE, SLEEP with OI”, As.It.O.I. informed the OIers about the project, organized a recruitment campaign to find the participants and organized the logistic of the investigations and provided a partial reimbursement.

Do you have any messages for the readers of OIFE Magazine?

Remember that healthy and responsible eating associated with an adequate physical activity helps reaching and maintaining a good quality of life. This is valid for everyone. OIers, therefore, should pay even more attention! Sometimes it is enough to follow some simple rules, with moderate sacrifice: no pain, no gain. The gain is absolutely worthwhile: better breathing and energy available for your daily activities. Finally remember that the nutritionist is not a judge, but a counsellor! The importance is to be informed and aware!