CLOVES Syndrome Awareness Day 2022: Types, symptoms and treatment
What's the story
Observed on August 3 every year, the CLOVES Syndrome Awareness Day informs people about the rare genetic disorder that affects the development of different body parts. There are less than 200 cases of CLOVES reported across the world to date. A report by German physician Hermann Friedberg "gigantism of the right lower limb" published in 1867 is considered the first known written account.
Context
Here is what our expert says
CLOVES syndrome is rare and caused due to a mutated gene (PIK3CA) in some of the cells of the body. It is present at birth. The deformities affect the blood vessels, eyes, skin, spine, and bones. There is no cure for the disease but the anomalies can be addressed to provide symptomatic relief and to improve the quality of life of the child.
Definition
What is CLOVES syndrome?
CLOVES syndrome is a very complicated disorder usually caused due to gene mutations. CLOVES stands for congenital, lipomatous, overgrowth, vascular malformations, Epidermal naevi, and scoliosis. It's a congenital disorder present at birth causing abnormalities in the blood vessels, nervous system, skin, spinal, and bone or joints including congenital heart defects. People with this syndrome may have unusually shaped heads and widely-spaced eyes.
Types
Different types of the Syndrome
There are four different types of CLOVES Syndrome: Type 1: This is the most common type and symptoms include seizures, developmental delays, and mental retardation. Type 2: This less common type includes symptoms like kidney problems and heart defects. Type 3: This is rare with symptoms like eye problems and brain abnormalities. Type 4: This is extremely rare and causes skeletal abnormalities.
Symptoms
Some common symptoms of CLOVES syndrome
Symptoms include delayed development milestones, behavioral problems, intellectual disability, feeding difficulties, and seizures. It can cause fatty tissue masses on the back, sides, and belly, spinal curvature, kidney problems, intestinal and bladder problems, and asymmetric growth as well. The Syndrome can also lead to large fingers or toes, large and wide hands and feet, unusual spacing between toes and fingers, and dilated veins.
Treatment
Treatment for the disease
Though there is no proper therapy available to cure the disorder completely, there are various treatments that can tackle the symptoms and improve the quality of life of those affected by the disorder. Meditation, acupuncture, and physical therapy can help to reduce chronic pain. CLOVES can cause fatigue, so one affected by it must exercise, eat a healthy diet and get proper sleep.