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Table 2 Key elements and challenges at different stages of life across PROS disorders

From: Mapping the PIK3CA-related overgrowth spectrum (PROS) patient and caregiver journey using a patient-centered approach

Stage of life

Key elements and challenges

Across PROS

Specific to K–T

Specific to CLOVES

Specific to M-CM

Birth to toddler

Appearance of symptoms: vascular anomalies, port-wine stain, soft/bony tissue hypertrophy, asymmetrical overgrowth, enlarged head, macrodactyly

Challenge finding qualified specialists

Appearance of symptoms:

 Capillary malformations present as port-wine stains

 Venous malformations present as varicose veins

 Lymphatic malformations present as lymphedema

 Vast majority of extremity hypertrophy occurs in the leg

Appearance of symptoms: abnormal extremities, fatty truncal mass, vascular anomalies, skin abnormalities

Appearance of symptoms: capillary malformations, “purple body,” webbed/extra digits, asymmetrical overgrowth, enlarged head, midline facial birthmark, low muscle tone

Toddler/preschool age

Stigma concerns

Support devices for mobility

Exploring appropriate schooling options and support

Frequent illnesses

Support devices for mobility

Special clothing supplier/tailoring

Stigma concerns can arise due to greater interaction with other children

Begin thinking about schooling options

Watch for trauma/infections

Developmental/learning issues may begin to appear

Stigma concerns

Support devices for mobility

Exploring appropriate schooling options and support

Frequent illnesses

Developmental delays may appear or become more apparent

Support devices for mobility, communication

Exploring appropriate schooling options and support

Frequent illnesses

Elementary school

Special accommodations at school

Missed school/work due to appointments and surgeries

Physical limitations

Stress from looking different, being stared at

Frequent illnesses

Work with school about special accommodations for physical limitations (physical education restrictions, mobility issues, flares)

Missed school time due to doctor’s appointments and surgeries

Stress/anxiety from looking different (clothing issues/compression garments)

Flares (bleeding, infection)

Watch for signs of scoliosis

Special accommodations at school

Missed school/work due to appointments and surgeries

Physical limitations

Stress from looking different, being stared at

Frequent illnesses

Special accommodations at school as developmental delays become more obvious

Missed school/work due to appointments and frequent illnesses

Physical and cognitive limitations

Stress on family unit, restrictions on activities

Children are often socially active, happy, but some may have behavioral disorders, such as autism or anxiety

Puberty/teenage years

Hormonal changes with puberty can impact disease course

Developmental gap can widen

Pain and fatigue can become an increasing issue

Relationships with peers can change–bullying may occur and may start to deal with intimacy/sexual health issues

Anger and depression can emerge

Frequent illnesses

Hormonal changes with puberty can impact disease course, causing even “mild” cases to become more complex

Puberty brings an increase in clotting issues (DVT, PE, thrombophlebitis), as well as painful menstrual periods and/or weeping of lymphatic fluid that can cause stigma and shame

Flares also can become more frequent and pain can become worse

Watch for signs of scoliosis

Relationships with peers can change along with a period of anger because of stigma and limitations on activities

Teens start to deal with sexual health issues, including intimacy and birth control concerns

Hormonal changes with puberty can impact disease course

Gap in development can widen; less support provided at school

Pain and fatigue can become an increasing issue

Girls may have heavy, painful menstruation

Relationships with peers can change, bullying can occur and may start to deal with intimacy/sexual health issues

Frequent illnesses

Unable to participate in many activities

Hormonal changes with puberty can impact disease course

Developmental gap can widen

Special education services at school

May have difficulty with peers

Frequent illnesses, low energy

Young adulthood

Move toward independent living

Transitioning to an adult care team

Struggle to educate themselves on their condition

Navigating intimate relationships and dealing with sexual health issues and genito-urological complications

Discussions on family planning

Patients with more severe physical/mental challenges remain at home and rely heavily on caregivers

Move toward independent living

Transitioning to an adult care team

Struggle to educate themselves on their condition

Patients with more severe physical challenges remain at home and rely heavily on caregivers

Continue dealing with sexual health issues, including birth control and genito-urological complications

Discussions on family planning

Move toward independent living

Transitioning to an adult care team

Taking responsibility for own care

Navigating intimate relationships and dealing with sexual health issues and genito-urological complications

Discussions on family planning

Patients with more severe physical/mental challenges remain at home and rely heavily on caregivers

Mildly affected patients may move toward independent living

Transitioning to an adult care team

May start to take responsibility for own care

Patients with more severe physical/mental challenges remain at home and rely heavily on caregivers

Parents may need to make decisions about guardianship

Older adulthood

Increasing medical issues due to disease progression and comorbidities

Pain and fatigue leading to depression

Therapist/psychologist support

Potential disability, difficulty working full time

Increasing medical issues due to progression and comorbidities

Pain and fatigue leading to depression

Difficulty maintaining relationships

Inability to work full time due to fatigue, frequent infections, hospitalizations

Extensive planning needed for many activities

Increasing medical issues due to progression and comorbidities

Pain and fatigue leading to depression

Therapist/psychologist support

Potential disability, difficulty working full time

Reliance on mobility devices/support

Data were not available for this age group

  1. CLOVES, congenital lipomatous overgrowth, vascular malformations, epidermal nevi, scoliosis/skeletal and spinal anomalies; DVT, deep venous thrombosis; K–T, Klippel–Trénaunay; M-CM, megalencephaly-capillary malformation; PE, pulmonary embolism; PROS, PIK3CA-related overgrowth spectrum