Random
How many different inherited hypophosphatemic disorders are included in genetic testing?
17
Crysvita is Contraindicated in (three answers)
1. Concomitant use of oral phosphate and/or active Vit. D
2. Serum phosphorous is within or above the normal range
3. Patients with severe renal impairment or end stage renal disease
Patients with TIO often present with these symptoms
severe musculoskeletal pain
Weak muscles
Fractures
Gait abnormalities
UCL and PDL have a patient find goal of
20
Describe the process and resources available to get a patient started on Crysvita remotely (without coming in to the office)?
Docusign to get patient consent
Remote genetic testing - Invitae can send buccal swab kit
Orsini can do in home blood draw for genetic test *after* start form comes in.
How old must a patient be to be eligible for genetic testing? Are there any exceptions?
6 months
An office can request to test patients younger than 6 months. They have to contact Invitae directly.
Name 3 diagnostic criteria for TIO in comparison to other hypophosphatemic disorders?
1. Acquired; often presents later in life with rapid symptom onset
2: Negative for genetic testing
3. No Family History of hypophosphatemia/osteomalacia
What are the most common locations of tumors in TIO patients?
1: lower extremeties
2: The Head
3: Pelvic/Hip area
4: Abdomen/Thorax/Neck
5: Upper Extremeties
Describe the biochemical findings you would expect in an XLH patient?
Low Serum Phosphorus
Inappropriately normal Vit D
Low TMP/GFR
High ALP in children
Elevated FGF23
Which of the following is NOT a criteria for ordering genetic testing?
Has sent in an Ultracare SF for XLH
Previous diagnosis related to hypophosphatemia
Family member with confirmed XLH diagnosis
Has sent in an Ultracare SF for XLH
Correct answer: Has sent in a COMPLETED Ultracare SF for XLH.
TIO is associated with: (Choose all that apply)
Mesenchymal Tumors
FGF 23 in excess
Family history of TIO
Mesenchymal Tumors
FGF 23 in excess
Which of the following is INCORRECT?
For genetic counseling patients must:
Have a previous diagnosis of XLH or family member diagnosed with XLH
Have a doctor's referral
Be 6 months or older
Have a doctor's referral
What is the easiest way for existing patients on Crysvita to enroll in genetic counseling?
Name 3 benefits of genetic counseling to XLH families beyond family planning
* Further education on disease state and progressive nature of XLH specifically
* Mapping of family tree to see other generations affected
*Ability to have other family members genetic tested if desired
*Answer questions about discrimination concerns due to their genetic condition.
*Connect family members to XLH treating physicians if necassary
*Connect to patient advocacy groups
What is the percentage of TIO patients are often misdiagnosed?
95%
Rookies only:
If there is an affected father with XLH, what are the chances that his biological daughter will also have XLH?
100%
Describe the symptoms that present for adult XLH patients that are unique in comparison to pediatric XLH patients.
Spinal Stenosis
Senseoneural Hearing Loss
Pseudofractures
Osteoarthritis
Rookies Only:
Describe your role as an UltraCare Liaison to a target that you are meeting for the first time.
Clarify role as clinical expert that can assist with XLH disease state information and resources, Crysvita information and resources, etc. I am your point person for anything XLH or Crysvita related, and I have a colleague that works directly with patients to assist them with access to Crysvita as well. Clearly define roles and distinction between UCL and UCG.
Rookie Only:
Pronounce this word correctly:
Enthesopathy
Have the winner also describe the underlying cause of enthesopathy, how it would manifest in patient-reported symptoms (Stiffness) and how UCL would review Stiffness data in adult patients.
A physician calls you to report that their adult XLH patient is not reaching the normal level of serum phosphorus. How do you respond?
Ask about timing of labs to determine if peak/trough. If trough, review adult clinical trial data from iCVA.
If Peak, refer to MSL for further guidance.
TIO may also be known as:
oncogenic ostemalacia
oncogenic hypophosphatemic ostemalacia
Excess FGF 23 results in this (3 answers)
Reduced expression of NaPi2A and NaPi2c which leads to renal phosphate wasting
Up-Regulation of 24 hydroxylase which has a catabolic effect on 125OH2D
Down-regulation of 1a Hydroxylase which prevents the conversion of 25OHD to 125OH2D.
The last two effects lead to inappropriately normal 125OH2D, which along with the renal phosphate wasting leads to chronic hypophosphatemia.
What is a proband?
It is the first person diagnosed with the disorder
Describe the clinical trial findings regarding Crysvita impact on growth for pediatric patients
Utilize iCVA to discuss improvement in growth.
Walk through the diagnostic process for a suspected TIO patient?
Biochemical findings: Low serum phosphorus, inappropriately normal 125OH2D.
Assess Family History - no family history & sudden onset of symptoms = consider TIO.
Test FGF23.
Functional imaging to locate tumor
surgical resection