2023-09-04 19:00:15
Cloves syndrome is a rare genetic disease that manifests itself by significant deformations of certain parts of the body. It has long been called “Elephant Man’s disease”.
Summary
Definition: what is Cloves syndrome?
Cloves syndrome is a rare genetic disease affecting children from the youngest age. Acronym “CLOVES” signifie “Congenital Lipomatous Overgrowth” (excessive growth of fatty tissue), “Vascular malformations” (vascular malformations), “Epidermal nevi” (epidermal nevi), et “Spinal/Skeletal anomalies” (abnormalities of the spine and skeleton). It has long been called elephant man disease, degrading name which is no longer used today.
What are the symptoms of Cloves syndrome?
The manifestations of the disease occur from birth et evolve during life, especially during childhood, in the period of growth.
► The overgrowth of certain parts of the body (big finger isolated) and/or growths of fatty tissue (we speak of lipomatous growths). For example, one arm bigger than the other.
► vascular malformations : these are abnormalities of the blood and/or lymphatic vessels which can cause circulation problems, for example.
► spots or skin lesions : they can sometimes itch.
► skeletal abnormalities : enlargement of the bones, deformation of the bones and in particular of the spine. For example, patients with Cloves syndrome may suffer from scoliosis.
These symptoms are frequently associated with chronic pain.
Symptoms that may be associated with Cloves syndrome © Novartis Presse
What are the causes of Cloves syndrome?
The exact cause of CLOVES syndrome is unknown, but it is usually linked to genetic mutations. A mutation of the PIK3CA gene has been identified in most patients with this syndrome. This is the same mutation implicated in the De Klippel-Trenaunay syndrome.
What is the impact on life expectancy?
The consequences of Cloves syndrome can be very variable depending on the location of the hypertrophic areas and their extent. The disease causes pain, inflammation, sometimes bleeding, phlebitis, functional disability… The vital prognosis for patients can be committed in the short or medium term depending on the seriousness symptoms (deformations of organs such as the brain or the kidneys, etc.).
What are the treatments ?
Support consists mainly of prevent and treat complications. Depending on the case, it is:
medical management of inflammatory or painful episodes medical management of thromboembolic complications management of superficial hemorrhagic complications of angiokeratomas correction of unequal length of the lower limbs management of scoliosis management by compression of vascular malformations of the limbs reduction surgery in the event of segmental hypertrophy or lipomatous masses treatment by cutaneous laser in the event of superficial vascular malformations that are aesthetically troublesome or disabling physical rehabilitation in the event of functional limitation linked to hypertrophy or the consequences of surgery
Research is underway to develop a treatment that would target the mutated gene. Since the spring of 2022, a treatment has been marketed in the United States. It was developed by the Pr Guillaume Canaud, nephrologist at Necker-Enfants Malades Hospital AP-HP. This is an inhibitor called BYL719originally studied in oncology.
Patients at day 0 and day + 180 suffering from Cloves Syndrome who participated in Dr Canaud’s trial © Dr Canaud, AP-HP
It is not yet marketed in France. Currently, no drug has marketing authorization (AMM) once morest Cloves syndrome.
Cloves syndrome, Oprha.net Medical first: CLOVES syndrome and hypergrowth syndromes: remarkable improvement in the state of health of 19 child and adult patients thanks to a new therapeutic strategy, AP-HP Hypertrophic syndromes linked to the PIK3CA gene (PROS) without cerebral involvement CLOVES and Klippel-Trenaunay syndromes, HAS
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