What Is the Life Expectancy of Someone With CLOVES Syndrome?

CLOVES syndrome is a rare, nonhereditary, genetic disorder that stands for:

• C: Congenital (child is born with the condition)
• L: Lipomatous (slow-growing fatty lumps under the skin)
• O: Overgrowth (fatty tissue that grows much more quickly than others)
• V: Vascular malformations (growths of blood vessels that have not developed as they should)
• E: Epidermal nevi (skin lesions)
• S: Scoliosis and other skeletal involvement (curved spine or other spinal problem)

CLOVES syndrome affects multiple systems of the body. The severity of the condition can range from mild to severe, causing discomfort, trouble with mobility, and a variety of neurological ailments. 

The most severe types include vascular abnormalities, scoliosis, bone enlargement, fatty tissue overgrowth, and deformity of organs including the brain or kidneys.

In terms of severity and combination, CLOVES syndrome symptoms are quite variable. Although some patients exhibit only mild symptoms, others may experience life-threatening symptoms. 

Signs and symptoms of CLOVES syndrome include the following:

Early signs and symptoms

• Delayed developmental milestones
• Intellectual impairment
• Behavioral problems (such as aggression or self-injury)
• Seizures
• Feeding difficulties (may require a feeding tube)
• Birthmarks (flat or raised red or brown areas; port-wine stains)

Other signs and symptoms

• Fatty tissue masses on the belly, back, or sides
• Problems with the feet and hands (large, wide hands and feet, large fingers or toes, and unusual spacing between the fingers or toes)
• Dilated veins (chest, arms, legs, and feet with a risk of blood clots)
• Scoliosis (spinal curvature) or tethered cord (when the spinal cord is attached to the spinal column)
• Kidney problems (unusual size and asymmetry and Wilms tumor)
• Intestinal and bladder problems (bleeding)
• Asymmetric growth (one side grows faster than the other, such as the arms and legs or head)

There are four types of CLOVES syndrome, each with its own set of symptoms: 

• Type 1: Most common signs and symptoms include developmental delay, mental retardation, and seizures
• Type 2: Less common and symptoms include heart defects and kidney problems
• Type 3: Rare and symptoms include brain abnormalities and eye problems
• Type 4: Very rare and features include skeletal abnormalities

CLOVES syndrome is the result of a genetic mutation or defect, in which genes mutate on their own for no apparent cause. This is known as a sporadic mutation. 

CLOVES syndrome is caused by a mutation of the PIK3CA gene. It is not inherited and passed down by parents to their children because the mutations do not affect the egg or sperm cells.

CLOVES syndrome is rare and visible from birth. It affects both men and women equally, regardless of race or ethnicity. Many patients with CLOVES syndrome are misdiagnosed with other diseases. Therefore, a thorough evaluation may be required depending on early signs and symptoms

After delivery, a clinical evaluation is required. Physical signs and symptoms help in diagnosing the condition at birth. Imaging technologies can also be used for early diagnosis. 

Doctors typically combine the following measures to diagnose CLOVES syndrome:

• Detailed medical and family history
• Thorough physical exam
• Imaging studies such as magnetic resonance imaging (MRI), computed tomography (CT) scans, and ultrasound and X-rays

Due to the current lack of long-term studies and therapies, there is still no cure for CLOVES syndrome. The goal of treating people with the condition is to provide symptomatic relief and improve their quality of life. 

CLOVES syndrome treatment can be difficult and requires a multidisciplinary team of specialists. Some of the treatments options may include”

• Drug therapy:
  • Sirolimus or rapamycin can inhibit the immune system and delay the formation of abnormal lymphatic vessels, which create vascular abnormalities seen in children with CLOVES syndrome. 
  • These drugs can also help with symptoms such as pain.
• Sclerotherapy:
  • This non-surgical technique can help reduce the size of the vascular abnormalities associated with CLOVES syndrome.
• Embolization:
  • This minimally invasive treatment method is used to reduce the size of arteriovenous malformations and other vascular abnormalities associated with CLOVES syndrome.
• Debulking surgery:
  • Debulking surgery is required in certain children to remove a portion of the enlarged tissue and blood vessels produced by the condition. 
  • Although debulking is a major, invasive procedure, it can transform the lives of children who have restricted mobility owing to limb deformities or severely enlarged veins.
• Inferior vena cava (IVC) filter:
  • An IVC filter can help children with CLOVES syndrome avoid pulmonary embolisms, which are life-threatening clots that can develop and move through the blood into the lungs. 
  • The surgically implanted filter lies in the IVC (major abdominal vein responsible for delivering blood from the lower body) and captures any clots before they reach the heart and lungs.
• Orthopedic procedures:
  • Orthopedic procedures may be required to correct foot, hand, spine, bone, and joint problems.
• Neurosurgery:
  • Neurosurgery may be required to repair a tethered spinal cord or spinal mass and craniofacial anomalies.
• Rehabilitation therapies:
  • These include physical therapy and occupational therapy.
• Other surgeries:
  • These may include general, urology, gastroenterology, and thoracic surgeries.
• Hematological therapies:
  • Patients with CLOVES syndrome may benefit from hematology evaluation including basic coagulopathy workup early in life and pre-procedurally.
• Nutritional support:
  • Patients with CLOVES syndrome who do not gain weight may benefit from dietary counseling and nutritional assistance.
• Psychosocial support:
  • Comprehensive multidisciplinary care should address the psychological burden of the condition and concerns regarding adaptation or coping. 
  • Management should aim to reduce not only physical but also psychological stress on both child and family. 
  • Social workers can help families deal with the diagnosis, mental health issues, and parenting and behavioral issues.
  • Moreover, community-based organizations or support groups can provide psychosocial intervention.
  • Support groups can provide information and assistance to patients and families dealing with this rare condition.
• Symptoms management:
  • The most common symptom of CLOVES syndrome is persistent discomfort. There are several pain management treatments that can help, such as medication, physical therapy, and acupuncture.
  • Fatigue is another common symptom of CLOVES syndrome that can be managed by moderate exercise, adequate sleep, and a balanced diet.

It is critical for patients and their families to discuss all options with their doctors to determine the best treatment plan for them.