Familial Hypercholesterolemia Awareness Week 2022
Awareness week 2022: where is the fight against familial hypercholesterolemia?
Familial hypercholesterolemia (HF) is one of the most common genetic diseases in the world and in France, and it can cause neuro-cardiovascular complications (cerebrovascular accidents, acute coronary syndromes, etc.) in young adults, even children.
On the occasion of the awareness week against HF from September 19 to 25, 2022, the IHU ICAN takes stock of this frequent hereditary disease.
Familial hypercholesterolemia: a genetic disease that is too often underdiagnosed
Unlike “classic” hypercholesterolemia, which develops with age or poor diet, familial hypercholesterolemia is the only pathology where the child is born with a very high cholesterol level.
Unfortunately, too often under-diagnosed, this disease is nevertheless a real public health issue:
- Scientists estimate that 225,000 to 270,000 people are affected in France,
- With only 10% of adults and 5% of children diagnosed.
“This disease is a real paradox since it is easy to detect and treatments exist! Today, human tragedies could be avoided by early detection of children and young adults. ”says Lionel Ribes, President of ANHET (National Association of Familial Hypercholesterolemia and Lipoproteins), interviewed by the IHU ICAN as part of this awareness week.
Familial hypercholesterolemia: what are the risks?
This disease is the most common cardiovascular risk factor among hereditary genetic conditions. “Cardiovascular risk is multiplied by 13 in patients with familial hypercholesterolemia,” explains Philippe Lesnik, Research Director at UMRS 1166 (IHU ICAN).
Among these sufferers, some are affected by the rare form of familial hypercholesterolemia (homozygous): without screening and without treatment, there is a risk of mortality before the age of 20.
To prevent the disease, it is very important to look for abnormally high cholesterol levels in members of the same family, compared to the values usually encountered for age in the general population.
“It is the non-sex chromosomes that carry the genes responsible for this hypercholesterolemia The child will therefore inheriting a dysfunctional copy from either its father or its mother. Overall, 50% of individuals in a family where one member is affected will inherit the disease.” explains Pr Alain Carrié, University Professor, Hospital Practitioner and Head of the Functional Unit for Genetics of Obesity and Dyslipidemia (Pitié-Salpêtrière Hospital).
What care pathway for patients?
A simple blood test can identify abnormal cholesterol levels.
The IHU ICAN experts have therefore set up a care pathway to improve the management of patients with familial hypercholesterolemia.
- As soon as there are warning signals and a suspicion of genetic disease following a blood test, the patient is generally referred by his attending physician or other specialists.
- He will benefit from a specialized consultation where genetic screening can be considered in order to search for gene mutations and identify dysfunction in the metabolism of LDL-cholesterol (bad cholesterol).
- In the event of a positive genetic screening, the patient is included in a specialized care course dedicated to the management of his pathology: annual specialist consultations, day hospitalization for non-invasive screening of vascular damage, etc.
Several types of treatment exist depending on the patient’s situation.
“ a Early detection and long-term treatment are the 2 fundamental elements that can allowliving with HF without suffering the consequences.“ says Dr. Antonio Gallo, IHU ICAN, University Lecturer and Hospital Practitioner at the Lipidology and Cardiovascular Prevention Unit (Pitié-Salpêtrière Hospital).
“We know how to detect and treat this pathology but, unlike other European countries such as the Netherlands or Slovenia, we have not put in place strong preventive measures!“ explains Lionel Ribes, President of the ANHET association.
Testimony of a patient from the Hemobiotherapy and LDL-apheresis unit (Pitié-Salpêtrière Hospital)
“I have familial hypercholesterolemia which was detected very early. When I was a child I had drug treatments, then around the age of 16 I started machine treatment (LDL-apheresis). Basically, we are filtered from the blood of bad cholesterol. The treatment lasts 2 hours, every 15 days, and I tolerate it very well in terms of my health. No contraindications or side effects, just a little fatigue the same day, then the next morning, I start my life again normally.”
How to improve disease prevention?
“There is an urgent need to set up early and generalized screening for familial hypercholesterolemia in the French population in order to prevent young affected patients from developing neuro-cardiovascular complications. (…) The goal is not to scare but to raise awareness that familial hypercholesterolemia is a real public health issue. » (Lionel Ribes)
Untreated or poorly treated familial hypercholesterolemia risks leading the patient to progressive atherosclerosis which can manifest itself in serious neuro-cardiovascular complications, or in early death.
The IHU ICAN teams work daily to fight against cardiometabolic diseases, the leading cause of chronic diseases and death in France and around the world. Your donations are precious for advancing medical research and improving the care pathway for patients.
“My dearest wish is that we can screen as many subjects as possible, as young as possible and as soon as possible, so that they can benefit from appropriate care so that their increased vascular risk is as close as possible to the general population.” (Pr Alain Carrié)
Who is ANHET? Since the creation of the association in 2013, theANHET represents the patients withfamilial hypercholesterolemia. With a scientific council (whose members are recognized for their expertise), itit communicates with the medical world, the general public, health authorities and the political world to inform of the seriousness of the repercussions on health. The association warns also the health and political authorities to obtain commitments for screening and treatment procedures.
Heroes' Run 2022 : our commitment to fighting heart failure
Heroes’ Run 2022 : our commitment to fighting heart failure
On June 19, the IHU ICAN participated in the “Heroes’ Run ” 2022 (“Course des Héros” in French), an associative and sporting event that allows people to collect donations to support the cause of their choice: disability, education, rare diseases, precariousness etc.
Our teams have chosen to support the fight against cardiovascular disease, the 1rst cause of death in the world after cancer.
IHU ICAN would like to warmly thank the generous donors who made it possible to collect a total of €5,865in donationsduring this event!
Our collectors thank you!
Thanks to your support, our 12 collectors from the IHU ICAN got together on Sunday, June 19 to take the start of the Heroes’ Run and spread the word about our cause during this festive and friendly event at the Domaine National de Saint-Cloud (92).
Over a distance of 6km or 10km, walking or running, the event allows everyone to commit to a cause that is important to them, regardless of their level of sport.
What is the UTHop’AI / RobEduc project?
The announcement of a heart failure diagnosis is an upheaval for patients. During his hospitalization, the patient will meet with multiple stakeholders to explain the new lifestyle habits to be applied upon his return home, but the dedicated time is often short and the repetition of key messages is important.
This project aims to raise awareness of therapeutic education for patients hospitalized for heart failure via a humanoid robot and artificial intelligence. This robot will complement the current inpatient care, in order to explain these new habits to patients.
Initiated at the request of the nursing staff, the project is led by Prof. Richard Isnard, Dr. Françoise Pousse and Dr. Lise Legrand of the cardiology department of the Pitié-Salpêtrière hospital (Paris 13th).
What will the collected donations be used for?
All the donations collected will help improve the care of heart failure patients by directly supporting the UTHop’IA / RobEduc project.
These donations will now be allocated to the engineering phase for the development of the robot’s mobility: electronic components, autonomous movement of the robot in the hospital (visits to patients’ rooms, opening of doors, etc.).
The next step will be the interaction of the robot with the patients.
Your donations are essential to support medical research on cardiometabolic diseases (obesity, diabetes, vascular and heart disease, etc.) alongside the IHU ICAN.
The IHU ICAN participates in the 2022 hero race!
The IHU ICAN participates in the 2022 hero race!
For the first time, the IHU ICAN takes up the challenge of the 2022 hero race! This solidarity, festive and friendly event will support an innovative project to improve the care of patients with heart failure.
What is the Hero Race?
Participate in a festive event: concerts, activities, collective warm-up, costume contest while supporting the IHU ICAN!
June 19, 2022 – Domaine de Saint Cloud National Park
Opening of the village 8:00 a.m. end of the event at 1:00 p.m.
Formats accessible to all!
- Walk of 2 or 6 km
- 6 or 10 km run
And concretely?
1 – The IHU mobilizes heroes to support its actions
2 – Each hero registers for the race then creates their fundraising page
3 – Each hero collects a minimum of €250 to participate in the race
4 – All heroes who have successfully collected participate in the race
5 – All funds are donated to the UTHop’IA / RobEduc program
What is the UTHop'IA project?
Objective of the project
The project aims to raise awareness of therapeutic education for patients hospitalized for an attack of Heart Failure (HF), via a humanoid robot and artificial intelligence.
Project leaders: Pr Richard Isnard, Dr Françoise Pousset and Dr Lise Legrand – Cardiology Department of the Pitié-Salpêtrière Hospital
Fundraising goals
1st level: €5,000– to finance the engineering phase on the mobility of the robot (components, movements, door opening)
2nd stage: €10,000 – to finance the engineering phase + the hospital acceptability study
How to support the IHU ICAN through the hero race?
- Become one of our heroesby creating a fundraising page to support the Uthopia project and run with us on June 19
- Participate in the collection of one of our heroes: by making a donation on the collection of one of our heroes
- By mobilizing your company/structure to create a team for the benefit of the IHU ICAN
IHU-ICAN participates in Expo Dubai 2020
IHU-ICAN participates in Expo Dubai 2020
The IHU ICAN is proud to participate in the cycle of conferences organized by 🇫🇷 French Healthcare Association as part of the fortnight in Health Research and Innovation at the French Pavilion at Expo 2020 Dubai.
Stéphane Barritault Secretary General and Stéphane Commans Head of Scientific Operations and Stéphane Hatem CEO, will present the model of the IHU ICAN Foundation for, tomorrow, better management of cardiometabolism pathologies (cardiovascular diseases, diabetes, obesity, NASH – soda disease ) by favoring a multidisciplinary and translational approach.
What is French Healthcare?
French Healthcare is an innovative association that aims to bring together all the players in the French healthcare ecosystem under a single banner to promote their know-how, technologies and innovations internationally. French Healthcare, in partnership with the French Health Association and Business France, is organizing a conference (videotaped) at the France Pavilion of Expo 2020 Dubai from January 25 to 26, 2022 (during Arab Health). The IHU ICAN will take place on January 26, 2022 at 10:00 am (French time).
Titre de l’intervention : Structuring translational research to meet the challenge of cardiometabolic diseases: the model of the IHU ICAN Foundation
Speakers:
• Stéphane Commans, PhD, Scientific Operations Manager
• Stéphane Hatem, MD, PhD, CEO
• Stéphane Barritault, MSc, MPH, Secretary General
When ? Wednesday January 26, 2022 – 1:00 p.m. – 1:45 p.m. (Dubai time zone) – 10 a.m. – 10:45 a.m. (French time)
