The "CEREMAIA" at Tenon is a national centre dedicated primarily to monogenic autoinflammatory diseases, the most common of which is Familial Mediterranean Fever, and to their most severe complication: Inflammatory Amyloidosis, also known as AA Amyloidosis.
Hôpital Tenon
Hôpital Tenon
Hôpital Tenon
Hôpital Tenon
Tenon's National Reference Center for Autoinflammatory Diseases and Inflammatory Amyloidosis
The Centre national de Référence des Maladies AutoInflammatoires et de l'Amylose inflammatoire "CEREMAIA" at Tenon is an adult constituent site of the European rare disease network ERN RITA.
CEREMAIA at Tenon focuses on monogenic autoinflammatory diseases, the most common of which is Familial Mediterranean Fever (FMF).
It is responsible for the etiological diagnosis and treatment of patients with Inflammatory Amyloidosis, also known as AA Amyloidosis.
The diseases most frequently seen in consultation are:
Familial Mediterranean Fever (FMF).
Cryopyrinopathies (CAPs).
Mevalonate Kinase Deficiency (MKD).
TRAPS syndrome.
Haploinsufficiency of A20 (HA 20).
Still's disease.
Schnitzler syndrome.
VEXAS syndrome.
ADA2 deficiency.
Inflammatory amyloidosis (AA amyloidosis).
Some diseases are much rarer: NLRP12, PSTPiP1, JAK1, CDC42 mutations, etc.
CEREMAIA Tenon transitions young patients from pediatrics with autoinflammatory diseases, and offers therapeutic education sessions for patients with Inflammatory Amyloidosis (AA Amyloidosis) and Familial Mediterranean Fever (FMF).
CEREMAIA Tenon is involved in translational research to better understand these diseases, discovering new genes and thus new therapeutic targets to improve care for patients aged 18 to 99.
CEREMAIA Tenon has been an expert center for autoinflammatory diseases and Inflammatory Amyloidosis since 2005.
Our team is made up of two senior doctors who coordinate the center: Pr Sophie Georgin-Lavialle and Dr Léa Savey, and two doctors who joined the center in 2021: Dr Marion Delplanque and Dr Antoine Fayand, and can see patients in emergency.
- Prof. Georgin-Lavialle and Dr. Savey treat patients with all autoinflammatory diseases and inflammatory amyloidosis.
- Dr Delplanque gives priority to patients with Familial Mediterranean Fever.
- Dr Fayand gives priority to patients with ADA2 deficiency and neurological and psychiatric manifestations.
Autoinflammatory diseases (AIDs) are defined by the International Society of Autoinflammatory Diseases (ISSAID) as diseases linked to abnormalities in innate immunity. They are characterised by: 1- Recurrent or continuous inflammation, which means an elevation in the blood of inflammation markers such as C-reactive protein (CRP) or fibrinogen or serum amyloid A protein (SAA). 2- In general, the absence of an abnormality in the adaptive immune system (most often the absence of autoantibodies).
The definition of a rare disease in France is a disease affecting fewer than one person in 2,000. Autoinflammatory diseases (AIDs) are rare diseases. Familial Mediterranean Fever (FMF), the most common type of AD, is a rare disease in France.
An orphan disease is a rare illness for which there is as yet no specific treatment, i.e. a cure. However, patients suffering from an orphan disease and their families can benefit from personalised care, with treatments to relieve their symptoms and medical or social assistance.
Throughout our lives, the body's cells renew themselves thanks to their DNA, which is like a computer program and codes for the manufacture of molecules called proteins that are essential to the proper functioning of our body. In fact, proteins provide the structure and function of almost all of life's biological processes. Once proteins have been manufactured by cells, they naturally adopt a particular shape. It is this shape that enables them to perform their function in the human body. When they are correctly folded, the body functions well and is healthy. But if they fold incorrectly (misfold), the body's ability to function can be impaired. When a protein misfolds, it is called an amyloid protein. When these amyloid proteins accumulate, they stick together and take the form of rigid linear fibrils. These rigid fibrils accumulate in the organs, forming amyloid plaques and preventing them from functioning normally. These fibrils are very strong and difficult to break. When organs are infiltrated by these plaques, we speak of amyloidosis. Amyloidosis is a disease linked to the abnormal folding of proteins in the body. When these organs are surrounded by amyloid fibrils, they function less well and various clinical signs may appear.
Inflammatory amyloidosis is a rare disease associated with the deposition of plaques of serum amyloid A (SAA) protein in tissues. SAA is an amyloid protein that folds poorly when produced in excess. Inflammatory amyloidosis (AA) is secondary to chronic inflammation.
It is estimated that there are more than 100,000 people in the world with an autoinflammatory disease. These diseases can affect patients from birth or occur in adulthood. They can affect patients in any country in the world.
La plus fréquente des maladies autoinflammatoires s’appelle la Fièvre Méditerranéenne Familiale et touche préférentiellement les patients originaires du pourtour Méditerranéen.
Formerly known as periodic illness, this is a genetic autoinflammatory disease linked to mutations in the MEFV gene. It mainly affects people from the Mediterranean region. It causes recurrent febrile abdominal pain.
It is an autoinflammatory disease with no genetic mutation found and does not meet a set of criteria defining a non-genetic disease such as Still's disease, Schnitzler syndrome or SITRAME syndrome.
Yes, autoinflammatory diseases affect both men and women. For one of them, VEXAS syndrome, the mutation is on the X chromosome and affects men in 95% of cases.
Yes, autoinflammatory diseases do affect children, particularly those that are genetic, passed on by the parents. The most common is familial Mediterranean fever.
Genetic autoinflammatory diseases can be passed on to children, particularly those with dominant transmission. However, these diseases are not infectious, so they are not contagious in the patient's direct environment, such as spouses.
Autoinflammatory diseases were initially identified as being associated with mutations in genes involved in innate immunity. They are known as MONOgenic autoinflammatory diseases. These are the most common, in particular familial Mediterranean fever, VEXAS syndrome, cryopyrinopathies and ADA2 deficiency. Certain diseases in which no mutated gene has been identified have been classified as autoinflammatory diseases because of their clinical and biological similarities to monogenic autoinflammatory diseases. These are known as POLYgenic autoinflammatory diseases. In adults, these include Still's disease, Schnitzler syndrome and SITRAME syndrome.
Nowadays, the most common autoinflammatory diseases are not fatal in early childhood, and treatments are available. However, in the absence of appropriate treatment and in the case of chronic inflammation, complications can arise and alter the vital prognosis, in particular AA amyloidosis in the case of dialysis, and cardiac and pulmonary damage in the case of Still's disease.
Monogenic diseases are hereditary and can be passed on to offspring at a rate of 1 in 2 in the case of a dominant disease.
Yes, autoinflammatory diseases do not affect fertility.
For patients with ILI, all vaccines available to the general population are recommended and can be administered without risk. On the other hand, patients on biotherapy (a rare situation) require particular attention when it comes to vaccines, as biotherapy can make patients more susceptible to certain infections. In addition to the vaccines recommended for the general population, patients are advised to have an annual influenza vaccine and a pneumococcal vaccine. Some live vaccines (MMR (Measles, Mumps, Rubella), BCG (against tuberculosis), rotavirus (Yellow Fever)) are theoretically contraindicated under immunomodulatory treatments, including biotherapies, but in many cases this should be discussed on a case-by-case basis with your specialist doctor.
If it is a health problem linked to the rare disease, yes; it is useful to contact your referral centre. The emergency date for the rare disease will provide you with useful emergency numbers. In the event of a common occurrence such as a virus, you can consult your GP.
The aim of treatment is to prevent relapses, to allow a good quality of life without pain and to prevent disease complications. In familial Mediterranean fever, the treatment is based on colchicine. In some other cases, treatments called biotherapies, administered by subcutaneous injections, are used. For some diseases, the treatment has not yet been codified. An opinion from a reference centre with expertise in the disease in question is recommended, particularly for very rare diseases.
Les antibiotiques contre-indiqués avec la colchicine sont les macrolides et la pristinamycine.
Research into autoinflammatory diseases is active. New diseases are discovered every year throughout the world. In France, teams working in research laboratories are investigating the mechanisms of many autoinflammatory diseases in order to improve their management. Clinical departments and reference centres take part in clinical trials to propose new treatments or new drug strategies. You can contact us to find out if there are any ongoing therapeutic trials or research into your disease.
You can make an appointment : -via the Tenon Hospital call centre (0156016615). via the CEREMAIA secretariat at Tenon (0156017431) or by writing to the CEREMAIA secretariat at Tenon (ceremaia-medecine-int.tenon@aphp.fr). - or on Doctolib by searching for one of the doctors at the Tenon centre (https://www.doctolib.fr/).
Oui. Il existe l’association française de la fièvre méditerranéenne familiale et des autres fièvre récurrentes (AFFMF) et l’association française contre l’amylose (AFCA). Son site internet est : https://amylose.asso.fr/.
There is an Instagram account dedicated to the FMF: @FMF.reference. And an Instagram account for the centre: @CEREMAIA_Tenon.
CEREMAIA Tenon has 4 social network accounts: Linkedin: CEREMAIA Tenon. Twitter: @CEREMAIA_Tenon. Instagram account dedicated to Mediterranean family fever: @FMF.reference. Centre's Instagram: @CEREMAIA_Tenon.
