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.
National Foot Health Week 2022: How to prevent diabetic foot wounds?
National Foot Health Week 2022: How to prevent diabetic foot wounds?
Impacting more than 3.5 million French people, the diabetes is a serious metabolic disease characterized by high blood sugar levels. Often under-diagnosed because it can be asymptomatic for many years, this disease is constantly on the rise and has become a major health issue: an estimated 693 million cases in 2045 worldwide (INSERM study 2019).
Among the health complications associated with diabetes, the most common is degeneration of the sensory and motor nerves in the lower limbs of the body, also known as “diabetic foot”. 15% of diabetics develop foot ulcers in their lifetimeand 85% of amputations performed in diabetic patients are due to a foot wound.
As part of the National Foot Health Week from June 13 to 18, 2022, the IHU ICAN presents the research work of Jérôme Haddad(MSc Podiatrist – Podiatrist at the Pitié Salpêtrière University Hospital) on the risks of foot ulceration in diabetic patients.
The diabetic foot: causes and consequences
According to some studies, plantar pressure is the main risk factor for a chronic foot wound in a diabetic patient. Indeed, diabetic patients with neuropathy have a thinner plantar epidermis and more rigid plantar soft tissues than non-diabetic patients, exposing the diabetic foot to skin tissue degradation that can lead to ulcer formation.
As a consequence of the metabolic abnormalities caused by diabetes, the range of motion of the foot and ankle joints is effectively reduced in diabetic neuropathic patients. This leads to significant disturbances in the function of the foot, due to abnormally high plantar pressures that can cause chronic foot ulcer. Patients with this type of ulcer have decreased physical activity, decreased sociability, increased stress levels, and a overall negative impact on their quality of life and well-being.
The number of people with diabetes is increasing dramatically worldwide over the years, so finding solutions to reduce the rate of foot ulceration associated with diabetes is essential.
How to predict and assess the risk of diabetic foot wounds?
Jérôme Haddad’s research work (MSc Podiatrist – Podiatrist at the University Hospital of Pitié Salpêtrière) focus on design and evaluation of a predictive biomarker of foot ulceration risk for a population of diabetic patients with lower extremity peripheral neuropathy, by the use of analysis tools practiced in clinical routine.
The hypothesis of this research project is that the wounds of diabetic patients are not only due to pressure, but also to the deformation in the thickness of the plantar tissue. As the neuropathy progresses, the patient’s biomechanical and structural characteristics deteriorate. The discovery of this neuropathy or diabetes often comes too late, once the wound has appeared, because despite the presence of risk factors, some patients do not necessarily have a wound.
It is therefore fundamental to identify both morphological and functional data in order to study the transition from grade 2 to grade 3 in the patient (see diagram above), and avoid a critical situation. By taking these 2 types of variables into account, the identification of a biomarker that would allow the establishment of a standard for the risk of wounds associated with neuropathy would be a major advance in the fight against this public health problem.
Jérôme Haddad’s project therefore plans to use routine clinical tools to propose a simple tool of evaluating and predicting the risk of wounds related to the diabetic foot, accessible in primary care.
How is this diabetic foot research project structured?
The project includes several study phases:
- Observational descriptive study of skin rheology of patients grades 1, 2 and 3: In vivo and by numerical simulation,
- Prospective observational descriptive study of grade 3 patients comparing areas with wound history and areas that remained healthy: In vivo and by digital simulation,
- Prospective observational longitudinal analytical cohort study: monocentric study in the form of a day hospital entitled “HDJ dépistage de la neuropathie”, with prospective longitudinal monitoring of all parameters at day 1, 6 months and 1 year.
Do not hesitate to contact us if you wish to know more about the process of this study.
What are the expected results?
The tool was created for use in clinical practice, research and clinical trials.
The research project plans to explore several aspects and hypotheses, such as:
- Analysis of inter-patient kinetics(e.g. which individuals move faster than others?),
- Evaluation of the parameters over time(What evolution? What reliability of the data?),
- The discrimination of functional risk groups and groups that would allow the creation of a new functional gradation, in order to complete the usual gradation by default of baresthesia and fine tact,
- Exploration of questions such as:Will this study lead to a functional classification? A functional clustering? A biomarker? Is grade 2 heterogeneous? Can we normalize the plantar pressure to all the different variables obtained? Can we create a prediction algorithm? Is it possible to discriminate the patient who enters the risk?
Who are the actors of this project?
- Jérôme Haddad: MSc Podiatrist – Podiatrist at the University Hospital of Pitié Salpêtrière
- Pierre-Yves Rohan: Assistant Professor – Lecturer at the Institute of Human Biomechanics Georges Charpak
- Dr Georges Ha Van Hospital Practitioner: Podiatry in Diabetes at AP-HP, Assistance Publique
- Antoine Perrier Podiatrist DE: Biomechanical engineer, PhD
- Pr Agnès Hartemann: Head of the diabetology and metabolism department at the Pitié Salpetrière Hospital
How to support diabetic foot research?
This innovative research project is financed by external funds. Donations are therefore essential to accelerate medical research and improve the care of patients suffering from diabetes.
- Would you like to support this specific research project related to the diabetic foot? You can contact Francine Trocmé by e-mail at f.trocme@ihuican.org or by phone +33 (0)1 88 40 64 05.
- Would you like to support the activities of the IHU ICAN in the fight against cardiometabolic diseases? Make a donation below.
Data sources, from Jérôme Haddad’s research:
• Boulton AJM, Vileikyte L, Ragnarson-Tennvall G, Apelqvist J. The global burden of diabetic foot disease. Lancet 2005
• Boulton A.J.M. et al. 2004
• Etudes Veves et al. (1992), Ahroni et al. (1999), Stess et al. (1997) et Fernando et al. (2013)
• Pirart J. et al 1977
• Chao et al., 2011
• Morag et Cavanagh, 1999, Morag et al., 1997
• Rao et al., 2011, Fernando et al. 1991
• Maluf et Mueller, 2003
• W. G. Meijer, 2001
International Nash Day 2022: How to fight Non-alcoholic steatohepatitis?
NASH Day: how to fight Non-Alcoholic SteatoHepatitis?
On International NASH Day, June 9, 2022, IHU ICAN looks back at ways to fight this liver disease that affects 25% of the adult population worldwide.
Also called “fatty liver disease” or “soda disease”, the Non-Alcoholic SteatoHepatitis (NASH) is a chronic disease caused by accumulation of intrahepatic fat in the liver (steatosis), associated with metabolic risk factors (obesity, type 2 diabetes…), but not linked to excessive alcohol consumption.
NASH: a disease in constant progression
The number of individuals with metabolic steatosis is increasing rapidly and will continue to do so in the coming years, especially with the increase intype 2 diabetes and obesity worldwide.
- 18.2% of the adult population in France affected (25% worldwide, 32% in the US)
- 7,000 deaths per year in France(118,000 in Europe, 104,000 in the United States)
- 3,445,000 new cases in Europe in 2016
- Average age of onset:52 years(mainly in men)
Source: Serfaty Gastroenterology 2020, CONSTANCES cohort
What are the causes of NASH?
One of the main causes of the development of NASH is the insulin resistance of an individual, associated with metabolic risk factors such as :
- Severe obesity,
- Type 2 diabetes(more than 70% of diabetic patients are affected by steatosis),
- High blood pressure,
- Sleep apnea,
- Dyslipidemia,
- Aging,
- Or genetic and epigenetic factors(cases of familial aggregation in relation to environmental and epigenetic factors).
Disease considered silent, NASH is often diagnosed unexpectedly, sometimes at advanced stages: fibrosis, cirrhosis, hepatocellular carcinoma…
How to prevent NASH?
There is no effective treatmentto cure a patient with NASH. Research and innovation are therefore essential to improve patient care.
However, certain hygienic and dietary measures are strongly recommended for patients at any stage of severity of hepatic steatosis:
- Change in diet with an adapted diet, limitation of alcohol consumption, diet,
- Fight against sedentary lifestyle,with an increase in physical exercise and sports,
- Weight control,
- Diabetes control.
These modifications are essential to promote the regression of the disease (steatosis, NASH or fibrosis) and to slow down the evolution towards cirrhosis and its complications(hepatic cancer, decompensation of cirrhosis).
In cases where dietary measures are not sufficient to slow the progression of NASH, bariatric surgery may be considered:
- For obese patients without advanced fibrosis, it allows a significant improvement of the liver damage with a return to a normal liver in a considerable proportion of cases.
- For patients with advanced fibrosis (≥ F3) or cirrhosis, however, the results are moderate.
NASH: how to improve patient management?
NASH has a significant impact on public health expenditures, with direct and indirect costs associated with the disease that are significant to health systems. Indeed, this disease is a multifactorial pathology that requires a multidisciplinary management.
To answer this problem, theIHU ICANcontributed in 2019 to the implementation of the NASH clinic with AP-HP (Public Hospitals of Paris) which is today the 1st hospital structure for diagnosis and multidisciplinary care of patients with metabolic steatosis in France.
- Over 300 patientscaredfor since its inception between 2019,
- An innovative, multidisciplinary and personalized care program,
- A unified and fluid circuit, in a single location at the Pitié-Salpêtrière Hospital (Paris),
- A dedicated team: hepatologist, radiologist, nutritionists, dietician, therapeutic education and sports educators.
How to act in the fight against NASH?
Donations are essential to support the excellence of French research on cardiometabolic diseases and to take action on this major public health issue. Find out how your donations are used.
- You can choose to support medical research against non-alcoholic fatty liver disease alongside the ICAN IHU by making a donation to the projects developed by the NASH clinic. Contact Francine Trocméby e-mail at trocme@ihuican.org or by phone at 01 88 40 64 05.
You can also support all the activities of the IHU ICAN, which fights on a daily basis against other cardiometabolic diseases (obesity, diabetes, heart and vessel diseases, etc.).
Clinique NASH, an innovative care pathway unique in France
Clinique NASH, an innovative care pathway unique in France
The NASH clinic was set up in 2019 by a multidisciplinary team from the AP-HP with the support of the IHU-ICAN in order to optimize the diagnosis and management of people with fatty liver disease; better control their disease and slow down or even curb its progression towards serious forms (cirrhosis, liver cancer) requiring major interventions such as liver transplantation.
NASH (Non-Alcoholic Fatty Liver Disease) is aliver disease caused by an accumulation of fat of metabolic origin independent of alcohol consumption or viral hepatitis. It is very often the consequence of a lifestyle that is too sedentary associated with a diet that is too rich in fats and sugars.
It concerns between 400,000 and 500,000 people in France per year, i.e. 25% of the general adult population . People with NASH are often asymptomatic and have a higher risk of developing cardiovascular disease, high blood pressure, or diabetes. Conversely, these comorbidities, particularly obesity and diabetes, are risk factors for the progression of liver damage to the most severe forms (cirrhosis and liver cancer).
The NASH clinic: the first hospital structure for the multidisciplinary care of patients with metabolic steatosis in France
Also, the AP-HP and ICAN teams have created the NASH clinic to offer patients a care pathway innovative, multidisciplinary and personalized. This course aims toanticipate and intercept the complications of NASH (early atherosclerosis, arterial hypertension, diabetes, etc.) and offer personalized care to each patient, taking into account their clinical phenotype, personal history and environment to ensure the best possible compliance with medical recommendations. The IHU-ICAN has made available dedicated human resources (1 doctor and 1 nurse) as well as its clinical investigation center, and has offered the conditions necessary for the construction of this course thanks to its transversal and multidisciplinary approach to diseases. cardiometabolism and nutrition.
Today, more than 200 patients have already benefited from it. The patient journey is simplified and unified within the framework of day hospitalization in the hepato-gastroenterology and nutrition departments of the Pitié-Salpêtrière hospital. Various medical specialists (hepatologist, radiologist, cardiologist, dietitian, diabetologist, surgeon, etc.) are mobilized to carry out the examinations necessary to establish a phenotype and a precise diagnosis with an assessment of hepatic and cardiometabolic risk. For better patient support, the circuit also offers a therapeutic education consultation, essential for better adherence to the proposed therapeutic programs.
