The girl's physical exam was classic for a preschooler. Her height, weight, blood pressure, and development were all within normal limits. Her anxiety at getting her 4-year-old shots was typical, as she asked over and over, "Will they hurt?"
What wasn't so typical were her hands and feet; the findings would unfortunately turn her and her family's world upside down.
Toward the bottom of both Achilles tendons, she had small raised areas that made the tendons bow out for about an inch.
Her knuckles were unusual as well. "Have her knuckles always looked like this?" I asked, pointing out the small yellowish protrusions on top of each knuckle that looked like calluses.
"Not really," her aunt answered, "but she loves to punch her uncle's heavy bag so I thought that was from that."
"Possibly," I thought, but something didn't feel right.
There are several rheumatologic diseases that affect a child's joints and tendons and can cause swelling around them. I ordered several lab tests to see if this was the case and had the preschooler, now with two sore arms from her vaccines and a freshly placed Dora sticker on her chest, come back for a follow-up visit in a few weeks with the promise that there would be no more shots then.
All the lab work came back normal, including tests to look for inflammation in her body that could cause swelling of her joints, as well as others to look for old infections that could also cause swelling.
Then her grandfather brought her for her follow-up appointment. As I looked into his eyes, another diagnosis came to mind and I ordered one more test.
In November 2011, the National Heart, Lung and Blood Institute released a set of recommendations titled "Expert Panel on Integrated Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents." Although they were immediately endorsed by the American Academy of Pediatrics, the guidelines drew some criticism from the pediatric community for recommending that all children should be screened for cholesterol between ages 9 and 11 and again between 17 and 21, regardless of risk factors.
This was in addition to screening earlier in a child's life if there were family risk factors related to high cholesterol, such as a close relative with early heart disease.
The goals of these recommendations were to identify children who had familial hypercholesterolemia - high cholesterol at an early age that can run in families - so they could be identified and treated at an early age to lessen the risk of early heart disease.
The lab called the next day with a critical result. Our preschooler's cholesterol test came back at an extremely elevated 600 (normal is under 130), most of it due to LDL "bad" cholesterol. This pointed to homozygous familial hypercholesterolemia (HoFH), a very rare condition in which abnormal cholesterol genes are received from each parent, putting the child at high risk for very early heart disease.
On her grandfather's eyelids were the classic yellowish skin deposits of fat underneath the skin called xanthelasma, a potential sign of high cholesterol, which he does have and which apparently runs on both sides of the family.
The swellings on the little girl's Achilles tendon as well as her knuckles were also signs of fatty deposits under the skin.
She was immediately started on several medications to lower her cholesterol, and put on a heart-healthy diet. She also was referred for a procedure called LDL apheresis. It resembles dialysis, with a machine selectively removing the bad cholesterol.
She is being followed closely by several cholesterol specialists and is a potential candidate for several newer drugs that have been shown to reduce cholesterol in patients with HoFH. She will be seen much more frequently and has a long road ahead, but she is a fighter. Just ask her uncle's heavy bag.
Daniel Taylor is an associate professor at Drexel College of Medicine and a pediatrician with St. Christopher's Hospital for Children. Daniel.Taylor@DrexelMed.edu .