The condition this treatment was approved for

High cholesterol you were born with

Familial hypercholesterolemia is a fault in how your body clears cholesterol from the blood. It is inherited, it is present from your first day, and it is the condition lipoprotein apheresis is approved to treat.

FH is not high cholesterol that crept up on you. It is a single inherited gene fault, and it has been raising your LDL since childhood.

Your liver clears LDL cholesterol out of your blood using receptors on its surface. In FH those receptors are missing, reduced in number, or do not work properly, so LDL stays in circulation instead of being removed. The result is a cholesterol level that is high from the start and stays high, regardless of how carefully you eat.

That last point matters, because people with FH are often told for years that they simply need to try harder with diet and exercise. Both are worth doing. Neither addresses the underlying fault.

Two forms

One faulty copy, or two.

FH is inherited in a straightforward pattern. Which form you have depends on whether you inherited the fault from one parent or from both, and the difference between them is enormous.

Forms of familial hypercholesterolemia
Heterozygous FH	One faulty copy, inherited from one parent. LDL runs roughly twice the usual level, from birth. Affects about 1 in 250 people, which makes it one of the most common serious genetic conditions there is, and one of the most frequently missed.
Homozygous FH	Two faulty copies, one from each parent. LDL runs as much as ten times the usual level, with disease appearing in childhood. Far rarer, at roughly 1 in 200,000, and it needs specialist treatment early in life.
How it passes on	Each child of a parent with heterozygous FH has a 1 in 2 chance of inheriting it. So does each brother or sister.

Recognising it

What makes a physician think of FH.

No single one of these confirms it, and a formal diagnosis uses a scoring system alongside your history and sometimes a genetic test. But together they are the pattern that should prompt the question.

SIGN 01

Very high cholesterol, young

An LDL that is high in your twenties or thirties, and stays high whatever you eat or how much you exercise.

SIGN 02

Heart disease early in the family

A parent, sibling or grandparent with a heart attack, stent or bypass before 55 in men or 65 in women.

SIGN 03

Cholesterol you can see

Firm swellings over the knuckles, elbows or Achilles tendons, yellowish patches around the eyelids, or a pale ring at the edge of the iris.

SIGN 04

It runs in a line

High cholesterol appearing in every generation, rather than in one person who gained weight.

Most people with FH do not know they have it. They know their family has bad luck with hearts.

If you have FH, your family may too

Tell your relatives. It is the most useful thing you can do.

Because the fault passes down in a simple pattern, finding one person with FH points directly at others. Each parent, sibling and child has a one-in-two chance of carrying the same gene, and most of them will have no idea.

Testing relatives of a known case, which clinicians call cascade screening, finds people decades before they would otherwise present, when treatment still has time to change the outcome. A cholesterol panel is enough to start.

Treatment

What is tried, and in what order.

FH responds to treatment. Most people do well on medication, and the aim is always to get there with the simplest thing that works.

High-intensity statin

The starting point, and enough on its own for some people with the milder form.

Ezetimibe added

Blocks absorption in the gut. Often paired with a statin rather than replacing it.

PCSK9 inhibitor, or bempedoic acid

Injectable or oral agents that can bring LDL down substantially further when the first two are not enough.

Lipoprotein apheresis

When maximum tolerated medication still leaves you above goal, or you cannot tolerate the doses your risk requires. This is where we come in.

Where apheresis fits

The four groups it is indicated for.

Indicated for patients with familial hypercholesterolemia for whom diet has been ineffective and maximum drug therapy has been either ineffective or not tolerated.

Indicated patient groups
Group A · Homozygous FH	LDL-C greater than 500 mg/dL
Group B · Heterozygous FH	LDL-C ≥ 300 mg/dL
Group C · Heterozygous FH with vascular disease	LDL-C ≥ 70 mg/dL with documented coronary artery disease or documented peripheral artery disease
Group D · Heterozygous FH with elevated Lp(a)	Lp(a) ≥ 60 mg/dL (130 nmol/L) with documented coronary artery disease or documented peripheral artery disease

Referral information for physicians →

Why treating it early matters so much

Arterial damage is driven by how much LDL your arteries are exposed to and for how long. Someone with FH starts accumulating that exposure in childhood rather than in middle age, which is why untreated FH brings heart disease forward by decades rather than years.

It also means the benefit of lowering LDL compounds. Every year spent closer to goal is a year of exposure you do not accumulate, which is the same reasoning behind treating on a regular schedule rather than chasing a single good number. How apheresis lowers it →

Begin / consultation

Inherited cholesterol that medication cannot bring to goal?

Send us your lipid panel and your history. We will tell you whether you meet the criteria, including when the answer is no.

Request a Consultation 561-488-5535