Texas Mother's Heart Attack at 40 Saves Her Son's Life


FH is autosomal dominant, which means that the genetic mutation can be passed to a child from just one parent. If the mutated allele comes from just one parent, the child develops heterozygous FH; from both parents, it becomes a more serious form of the disorder, homozygous FH.

A diagnosis is made by evaluating family history and total LDL. In some other countries, genetic testing is used, but here it is expensive and not covered by insurance plans, according to Underberg.

Other signs can be cholesterol deposits around the eyes or on the Achilles tendon or rings around the outer part of the iris.

"There is a tremendous lack of awareness," said Underberg. "And early diagnosis can prevent an early death."

FH can be treated with cholesterol-lowering drugs known as statins, as well as an "appropriate diet and lifestyle," said Underberg. "But it's almost impossible to do it on diet alone. Really, it's almost impossible to treat it without medication."

Because Blair is cannot tolerate statins, doctors have tried a number of other treatments, including bile sequesters and a dialysis-like procedure to rid the cholesterol, known as LDL apheresis. None have been completely successful.

"They are struggling to find a path for me, but the good news is my son is on low-dose statins and he is awesome," said Blair.

Because of early diagnosis, Christian's LDL levels are "perfectly normal' and "he should be fine," according to Blair. An ice hockey player, he travels all over the country for tournaments.

"If we can get patients actually diagnosed early, it's the key to preserving hundreds of thousands of lives a year," she said. "Children can be caught early and never have cardiac disease in their future. It would save the nation millions of dollars."

-- This embed didnt make it to copy for story id = 18563080.
  • 1
  • |
  • 2
Join the Discussion
blog comments powered by Disqus
You Might Also Like...