There is no cure for PIK3CA - relate giantism spectrum , but several option are available to deal the root case of the condition and help oneself manage symptoms . These let in place therapy , medication , and surgery in certain cases .

PIK3CA - colligate gigantism spectrum ( PROS ) refers to a group of genetic disorders . There is presently nocure , but there are a kind of discourse options .

Some of these treatments focus on symptom direction , while others can help deal the inherent cause of PROS .

Learn more about PROS , targeted therapy , and other treatment option .

PROS is a grouping of genetical disorders that cancausethe overgrowth of various parts of the body . This is because of a variation in a gene known as PIK3CA . This cistron is in charge of baffle cellular telephone growth , as well as cell division and cell survival .

Due to the cistron changes in PROS , some portion of the body can become larger than expect .

Certain type of tissue may be affected , including :

Since PROS can impact so many types of tissue , it can look different among people live with the same condition .

Here are some common ways pro canshow up :

PROS may causecomplications , including :

What are the treatment options?

At present , treatment for PROS is limited . masses with pro can have immensely different symptoms , severity , and manifestations of the condition . Because of this , handling is highly individualized and free-base on the needs of the person live with the condition .

Treatment options may pore on the direction of symptoms , which can vary widely between citizenry with PROS .

Targeted therapy

In 2022,alpelisibbecame the first FDA - sanction targeted therapy for adult and pediatric patients ages 2 and above who have austere PROS and need systemic therapy .

Alpelisib works by blocking the overactive signal nerve pathway of the PIK3CA gene . It can facilitate thin giantism , vascular lesions , and functional complications due to PROS . It can also assist prevent newfangled wound from forming .

In people years 2 to 18 years , 50 milligram ( mg ) of alpelisib is taken orally with food once a twenty-four hours at roughly the same prison term each day .

From the age of 6 , the social disease can be increase to 125 mg per day after 24 weeks have passed .

In adult , 250 mg once day by day by word of mouth with food is order .

Clinical trials suggest alpelisib is bothwell toleratedand clinically good for both adult and children with PROS .

Medications

Along with targeted therapy , other medications are available for PROS treatment . These may be used to facilitate with symptom management of PROS :

Surgery

A variety of operating room may occur to help contend PROS symptoms .

Brain surgery

neurologic complications as a result of PROS can need neurosurgery . Thesecomplicationsmay include but are not limited to :

Neurosurgery may also be undertaken to help negociate seizures .

Debulking surgery

For those with gigantism of limbs or bulky tissues , a surgery known asdebulking surgerymay be performed . This can serve cut the size of tissues and overgrown limbs .

However , vascular modification in the overgrown tissues can conduct to complication after a debulking surgical procedure . The tissue can also regrow following surgical procedure , requiring repeat operating theater throughout a person ’s life couple .

Orthopedic surgery

Some people with PROS may benefit from variousorthopedic surgeries , which demand the muscle , bones , and joint .

An example that may be required is surgery to exit the growing home plate in joints — most commonly the knee — to equalise the duration of the legs . This may also be performed on fingers and toe with overgrowth .

Laser ablation

Vascular change in PROS can cause the formation of unusual roue vessels , which can create seeable marks on the skin . Laser therapymay be used to remove these on the skin .

Other options

In some cases , additional intervention or curative options may be urge for hoi polloi living with PROS .

A Dr. mayrecommendcompression garment and lymphatic massage to concentrate extrusion .

Shoe lift on a ramification that is unretentive may be useful before orthopaedic surgery toeven outthe length of the legs .

A Doctor of the Church may refer those with physical or mental disablement totherapieslike occupational therapy , physical therapy , delivery therapy , and special education service .

Summary

There is no therapeutic for PIK3CA - related gigantism spectrum , but a variety show of handling choice are uncommitted . Targeted therapy can aid handle the underlying cause of PROS . Other treatment pick , like surgery , can help handle symptoms . Other treatment and symptom management options include medications , laser ablation , and therapy , such as occupational therapy .