Think You Know How Much HoFH Sucks? Read This!

We may be heading into the holiday season, but there is no Ho! Ho! Ho! in HoFH.

bad santa drinking
I’d rather Santa bring me a truckload of coal than have HoFH.

Most people can’t even  say it, let alone try to live with it: homozygous familial hypercholesterolemia, aka HoFH.

kiera knightly beaver blooper
Yeah…. that’s not what I meant to say. At. ALL.

So what is this condition and how does it affect those who have it?

Homozygous familial hypercholesterolemia (HoFH):

  • Is a rare and severe hereditary lipid disorder
  • Occurs in one in a million births
  • Causes very high serum levels of low-density lipoprotein cholesterol (LDL-C) that is treatment-resistant
  • Puts people who have it at extremely high risk of premature onset coronary heart disease, and many patients die before they reach their mid-30s

Having HoHF can severely impact more than the physical health of people who have it. Trying to manage the disease and normal life is difficult. People with HoFH feel sick most of the time–if not ALL of the time. Frequent doctors’ appointments and in-hospital procedures take a huge chunk of time out of their weeks.

waiting in the hall
So. Many. Hours. In. Waiting. Rooms.

Often people with HoFH end up having cardiovascular surgeries, including stent placement, bypass, and aortic valve replacement. It’s no wonder they report worrying about the uncertainty of their futures.

back to future
This is my future?!?

Having to deal with the physical aspects of HoHF can also significant emotional stress. That, in turn, can affect relationships with family, friends, and coworkers.

Having a severe illness like HoHF is also expensive, but HoHF symptoms and treatment make it difficult to complete an education or hold down a job. The physical signs of HoFH include unsightly fatty deposits or bumps, called xanthomas, which can affect self-esteem. Often these deposits appear on the eyelids, and they are difficult to disguise.

dog tail disguse
You can try to disguise your HoFH, butt…..

The standard-of-care therapy for HoFH is LDL apheresis. Like dialysis, LDL apheresis requires a trip to a hospital or outpatient center where a machine filters a patients blood. Patients report spending at least 5 hours per week traveling to and undergoing the procedure, a considerable chunk of time to schedule around.

So what’s a person with HoHF–and the people who care about them–to do?

Just love love love them–no matter what!

Everyone affected by HoHF should talk with their healthcare professionals honestly about their lifestyles and their commitment to treatment. Helping people understand the whys and hows of HoHF and it’s treatment, as well as helping them find the support they need, is essential to successful treatment.

ludacris thumbs up
You make life with HoFH look easy, even though it’s not. Way to go!

– See more at HCPlive

Here are some other resources!

The Burden of Disease in Homozygous Familial Hypercholesterolemia

NINDS Lipid Storage Diseases Information Page

National Organization for Rare Diseases

Mended Hearts



EmpatheticBadass is a young-at-heart writer from Ohio (Go, Bobcats & The Marching 110!)) who is passionate about being a voice for the patient perspective.

Follow us