Alpelisib

If you or your child has a vascular anomaly – meaning a problem with blood or lymph vessels leading to swelling, pain, or changes in appearance – your doctor may speak to you about alpelisib. Some of these conditions are linked to changes in genes like PIK3CA, which cause blood vessels to grow the wrong way or enlarge.

• What types of vascular anomalies can alpelisib help with?
  Alpelisib is used for certain severe vascular anomalies, especially when other treatments have not worked or are not possible, or when the anomaly is caused by PIK3CA gene mutation. These include:
  
  • Lymphatic malformations: Abnormal growths or swelling of the lymph vessels. They can happen anywhere in the body, including the head and neck, and may cause pain, swelling, or trouble with breathing or swallowing.
    
  • Venous malformations: Tangled or enlarged veins that can cause pain, swelling, bleeding, or blood clots.
    
  • Capillary-venous malformations: A mixture of small blood vessel and vein problems, causing skin changes, swelling, or pain.
    
  • PIK3CA-related overgrowth spectrum (PROS): Conditions like CLOVES syndrome (Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, and Spinal/skeletal anomalies), Klippel-Trenaunay Syndrome and facial infiltrating lipomatosis are under this group of overgrowth disorders called PROS, where the genetic mutation in PIK3CA causes abnormal growth of tissues and blood vessels in different parts of the body.
    
  
  Alpelisib is approved for adults and children 2 years and older who have severe problems from these kinds of vascular anomalies and need treatment that works throughout the whole body.
  
  
• How do you take alpelisib?
  
  • For adults, the usual dose is 250 mg once a day with food.
    
  • For children ages 2 to under 18, the starting dose is 50 mg once a day with food. Your doctor might increase it incrementally if needed and if it is well tolerated.
    
  
  Alpelisib is an oral tablet. Swallow the tablet whole, or if necessary, it can be mixed into a liquid or given through a feeding tube.
  
  
• What are the benefits?
  Alpelisib may shrink abnormal blood vessels or enlarged/overgrown tissues, ease pain, and improve how you feel and move. Most patients can expect to see measurable improvement in symptoms or a reduction in the size of vascular anomalies within 6 months of starting alpelisib. Some people may notice symptom relief earlier, while others may need longer treatment for the full effect.
  
  
• What blood tests and monitoring are needed?
  Before starting alpelisib, your doctor will order blood tests to check:
  
  • Fasting blood sugar (glucose) and HbA1c: To check for diabetes or high blood sugar, since alpelisib can raise blood sugar levels.
    
  • Liver function tests: To make sure your liver is healthy enough for treatment.
    
  • Kidney function tests: To check how well your kidneys are working.
    
  • Full blood count (FBC): To check for low white blood cells, red blood cells, or platelets.
    
  
  While taking alpelisib, these blood tests will be repeated regularly – to watch for side effects and ensure the medicine is safe for you. Blood sugar is usually monitored more often at the start, especially if you are at risk for high blood sugar or have diabetes.
  
  
• What else should you know?
  
  • Inform your doctor if you have any allergies, health problems, or if you’re pregnant or planning to be. Use birth control while taking alpelisib and for one week after stopping it.
    
  • Inform your doctor immediately if you notice new symptoms like stomach pain, bloody stools, trouble breathing, or visual changes.
    
  • Your doctor will check your blood sugar and watch for side effects with regular blood tests and reviews.
    
  
  
• What side effects should you watch for?
  
  • The most common side effects are diarrhoea, rashes, and high blood sugar.
    
  • Other possible side effects include nausea, hair thinning and mouth sores. Rarely, serious skin reactions or lung problems may occur.
    
  • If you have diabetes, your doctor will check your blood sugar often and make adjustments to your medicines accordingly.
    
  • If you experience diarrhoea, rashes, or mouth sores, do inform your doctor right away. These can often be managed by changing the dose or using other medicines.
    
  
  
• Common medication interactions
  Some medicines can affect how alpelisib works or increase the risk of side effects:
  
  • Strong CYP3A4 inducers (e.g. rifampin, carbamazepine, phenytoin, St. John’s wort) can lower the levels of Alpelisib in your body and render it less effective. If possible, these should be avoided.
    
  • Breast Cancer Resistance Protein inhibitors (e.g. cyclosporine, eltrombopag, and certain HIV medicines) can increase the amount of in your body and increase the likelihood of side effects. If these medicines cannot be avoided, your doctor will monitor you more closely for side effects.
    
  • Acid-reducing agents (like famotidine) may decrease how much alpelisib your body absorbs, but this is less of a concern if alpelisib is taken with food.
    
  
  Alpelisib does not have significant interactions with most other common medicines, including many blood thinners, blood pressure medicines, and diabetes medicines, but you should always inform your doctor about all the medicines and supplements you are taking.
  
  
• Other treatment options
  Treatment for vascular anomalies may also include observation, sclerotherapy or surgery. Alpelisib or other targeted therapies are often considered when these options are not sufficient or not possible.
  
  
• Summary
  Alpelisib is a targeted therapy for certain vascular anomalies and overgrowth syndromes caused by PIK3CA mutations. It can improve symptoms and quality of life, but regular monitoring for side effects is important. Always follow your doctor’s instructions and ask questions if you have concerns.

The information above is also available for download in pdf format.