I know many of you may be away but I wanted to reach out to those of you who have had experience caring for children with HOFH.
I have a 6 yo with HOFH (genetically confirmed) with LDL-c levels at diagnosis at age 4.5 years in the 800-900 mg/dL range with low HDL-c levels and Lp(a) 5 times normal. At initial work-up, he was found to have coronary artery disease in all 3 vessels, but none that we felt warranted intervention at such a young age. He was placed on crestor, metoprolol, ASA, zetia (but removed after continued elevated of LFTs and with no change in his LDL levels) and has been on lomitapide (compassionate use) for 15 months. He also has been on apheresis weekly for over 1 year. The lomitapide, unfortunately, has not had the desired effect with very little decrease in his levels and so he has necessitated weekly apheresis. I have been trying to get evolocumab (compassionate use) for quite a while but there has been a major hold up with CHOP and I am honestly not sure he will do okay with an injection.
He has not been doing well with his apheresis. He is combative, throwing things, and requiring 4 nurses to hold him down. He has behavior problems at school, too but nothing like this. I got a call yesterday that they couldn’t do the apheresis as it just wasn’t safe so he will need to skip a week. He gets 1 mg lorazepam prior to the procedure but now it is not working. I am discussing options with one of the anesthesiologists regarding sedation but this would be weekly sedation, which is a big deal, especially someone with coronary artery disease.
Do any of you have any ideas/thoughts on what more can be done? I feel like I’m in such a bind but he can’t keep missing his apheresis.
I appreciate any insight you may have. I hope you are all having a wonderful holiday.