Not all children show signs of HHT (i.e., nosebleeds and “red spots” on the skin). Children without nosebleeds or other symptoms of HHT can have AVMs in their lungs or brain that require intervention.³ In fact, potentially life-threatening manifestations of HHT have been identified in asymptomatic children under 12 years of age.¹
- If a family has had genetic testing, then all children in the family should be tested against the identified gene mutation.
- If the family gene has not been identified, then a clinical evaluation will be required.
All children diagnosed with HHT should receive a pediatric screening for HHT. A screening appointment consists of a thorough history, a physical examination, screening for lung AVM (PAVM), and brain magnetic resonance imaging (MRI) with and without contrast.¹ If a child’s initial screening is not conducted at an HHT Center, it would be recommended that all patients with a positive MRI or an abnormal echo bubble test consult an HHT Treatment Center for consideration of more invasive testing and further treatment.
Symptoms of HHT
- In children with HHT
- 33% have nosebleeds by age 10
- 80-90% by age 21
- 95% by age 40
- In children without HHT
- Rare in infancy
- 30% have had one by 5 years old
- 55% of 6-10 year olds have had at least one nosebleed
- 9% of 11-14 year olds have “frequent episodes”
- Mostly outgrown by adulthood
- Seen in >20% of children with HHT
- Exercise intolerance is mistaken for asthma
- Strokes are rare
- “Red spots” on skin, tongue, lips
Pediatric Care Recommendations
What to do if you think your child may have HHT:
- If the diagnosis is unclear, ask about genetic testing
- Once the diagnosis is clear (or there is no familial genetic mutation identified), ask about screening for lung AVMs (PAVM) and brain VMs
- If PAVM screening is positive, consider treatment, utilize prophylactic antibiotics to prevent infectious complications, and perform follow-up screening for changes over time
- If brain VM screening is positive get a referral to a neurovascular team, preferably at an HHT Center of excellence, and consider treatment
- OR, if all screening is completed and negative, talk with your pediatrician about rescreening in 5 years
- Pediatric HHT International Guidelines
- HHT International Guidelines Pediatric Recommendations / Checklist
- HHT International Guidelines Pediatric Fact Sheet
- White, A., Hammill, A. (2021, May). HHT in Pediatrics [Webinar presentation].
- Cure HHT Resource Library Pediatric Resources
Lynne Sekarski, MSN, RN, CPN and Lori Spangenberg, BSN, RN. 'Hereditary Hemorrhagic Telangiectasia: Children Need Screening Too', Pediatric Nursing, 2011, Vol 37(4); 163-168.