TreNaurenda Syndrome: Characteristics and Additional Information
Klippel-Trénaunay syndrome (KTS), a rare condition present from birth, impacts approximately 1 in 100,000 people worldwide. Named after French physicians Maurice Klippel and Paul Trénaunay, KTS is characterized by a red-purple birthmark, overgrowth of soft tissues and bones, and vein problems, including varicose veins in 50% of cases.
A doctor may diagnose KTS based on physical examinations and may order additional tests such as a color doppler ultrasound, a magnetic resonance imaging (MRI) scan, and a magnetic resonance venography (MRV) scan to confirm the diagnosis. KTS is often associated with a port-wine stain, a birthmark caused by swelling of small blood vessels near the skin surface.
The condition is considered a part of the PIK3CA*-related overgrowth spectrum (PROS). Alterations in the PIK3CA gene, which is associated with the development of KTS, can cause changes in the protein that PI3K produces, leading to excessive growth of bones, soft tissues, and blood vessels.
Treatment plans for KTS are highly individualized and often combine conservative and interventional measures to manage symptoms and improve quality of life.
Non-surgical treatments focus on symptom management and prevention of complications. Compression garments such as stockings or sleeves reduce swelling, improve blood flow, and lower the risk of blood clots. Medications include pain relievers for discomfort, blood thinners if there is a clot risk, and antibiotics for infections related to skin ulcers. Physical therapy helps strengthen muscles, improve mobility, and reduce stiffness, especially when limb size differs significantly.
Surgical and procedural treatments aim to address visible abnormalities and complications. Laser therapy is used to lighten port-wine stains on the skin. Sclerotherapy involves injecting chemicals into abnormal veins to shrink or close them, reducing pain and swelling. Vein surgery may include tying off or removing enlarged painful veins. Limb surgery can correct or reduce the size difference in overgrown limbs.
Long-term care involves regular monitoring to catch complications early, skin and wound care, and a multidisciplinary team approach for comprehensive management.
One treatment option, rapamycin (sirolimus), may help prevent symptoms of KTS by stopping a protein known as mTOR1 from working. However, it has adverse side effects and a doctor will need to monitor an individual taking it closely.
The outlook for an individual with KTS will depend on the severity of the symptoms, but many individuals can manage them with regular doctor appointments and following their treatment plan. With a tailored approach to treatment, individuals with KTS can lead fulfilling lives.
- The predictive changes in the PIK3CA gene, associated with Klippel-Trénaunay syndrome (KTS), can influence the production of a protein, leading to obesity, medical-conditions, health-and-wellness issues, such as excessive growth of bones, soft tissues, and blood vessels.
- Non-surgical treatments for KTS, like compression garments, medications, physical therapy, and skin care, can help manage symptoms, prevent complications, and improve an individual's quality of life.
- Science and medical advancements have opened up options like laser therapy, sclerotherapy, vein surgery, and limb surgery for addressing visible abnormalities and complications associated with KTS.
- Skin care is essential for people with KTS, as they may have skin conditions like port-wine stains, which can be treated with laser therapy.
- Though the outcomes for individuals with KTS can depend on the severity of their symptoms, following a tailored treatment plan, and regular doctor appointments can enable many individuals to live fulfilling lives, managing their health-and-wellness, fitness-and-exercise needs, and reducing risks of complications.
