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Hypercholesterolaemia familiaris
Inherited high cholesterol from birth — not the value alone counts but the years, which is why an early start works most strongly.
Also known as: FH · inherited high cholesterol · LDL receptor defect · xanthomas
Open in the tool — with search and all the links →This compilation is for information and replaces neither medical diagnosis nor treatment. If you have symptoms, see a doctor.
The commonest inherited metabolic disorder of all — and at the same time one of the least often recognised. About three in a thousand people carry it in its simple form, and the great majority do not know. The cause is usually a defect of the LDL receptor, the docking site through which the liver retrieves cholesterol from the blood. If it works only halfway, too much LDL cholesterol stays in the blood lifelong — typically above 4.9 mmol/l, often much higher, and that from childhood on. Therein lies the special point: it is not the value alone that counts, but the number of years the vessels are exposed to it. Untreated, about half of men before the age of 50 and around 30 in 100 women before 60 suffer a cardiovascular event. Inheritance is dominant: every child of an affected person has a 50 percent probability. Visible signs can occur but are often absent — yellowish nodules on the Achilles tendon or eyelids, a pale ring around the iris at a young age. Suspicion rests mainly on three things: a persistently very high LDL, heart attacks or strokes in the family at an unusually young age, and high cholesterol in close relatives. It is secured through the value over time, the family history and if needed a genetic test. The decisive point: it is very treatable. Statins are the basis, supplemented by further agents if the target is not reached. And because the trait lies in the family, cascade screening of relatives belongs to it — siblings, children, parents. Every affected person found early gains decades.
Heart attack or stroke in parents, siblings or grandparents at a young age — men before 55, women before 60 — is the strongest clue of all and is rarely asked about actively.
Once the diagnosis is made, siblings, children and parents should know their values. A simple blood test is enough as a first step — every person found early gains decades.
Because risk builds over decades, starting treatment early works more strongly than late, very strict treatment. That also takes the pressure off having to get everything right at once.
In the familial form the high LDL is not a consequence of lifestyle but of the trait. Diet and exercise remain valuable but usually do not suffice alone — knowing this visibly relieves many people.
Yellowish thickenings on the Achilles tendon or finger extensor tendons and a pale ring around the iris at a young age are rare but very telling clues.
Smoking, high blood pressure and diabetes multiply an already raised risk. Precisely here every single improvement pays off especially.
Statins inhibit an enzyme in the liver; the liver cells then pull more LDL out of the blood. The value falls for as long as they are taken. The familial form is written in the genes — it does not go away, it is managed.
About one in two hundred and fifty people is affected — far more common than long assumed — and the great majority do not know. An LDL above 4.9 mmol/l in adults or above 4.0 in children suggests it, especially with heart attacks in the family before fifty-five in men and sixty in women. Untreated, the hardening of the arteries begins decades earlier; treated from childhood or adolescence, the outlook is close to normal.
Values above five millimoles per litre in adults or above four in children that hardly move with diet. The diet is not the cause here — a docking site that works only half is.
A heart attack or a bypass operation in men before fifty-five or in women before sixty, in parents, siblings, grandparents. That is the strongest pointer of all — and it appears in no blood test.
Thickenings of the Achilles tendon or the extensor tendons on the back of the hand, yellowish deposits on the eyelids, a white ring around the cornea before the age of forty-five.
That is the reason this condition is so rarely recognised: there are no complaints. It is found through the value, through the family, or not at all.
The central value. Persistently above about 4.9 mmol/l without another explanation should raise the thought of a familial form — clearly lower in children.
Also inherited and independently risk-relevant — measuring once in a lifetime is worthwhile, especially with a family history.
Reflects the total number of vessel-damaging particles and usefully complements LDL.
They lower the blood fats and act on the excitability of the heart muscle. Oily sea fish twice a week is the best-supported route; very high doses from capsules are not a harmless more.
Keeps the rhythm steady and lowers blood pressure. Water tablets drive it down, certain blood pressure drugs and a weak kidney drive it up — which is why it is checked under treatment.
A lack favours extra beats and at the same time keeps a potassium deficiency going. Anyone replacing only the potassium sees no success while the magnesium is missing.
Less salt lowers blood pressure measurably, and most of it is not in the salt cellar but in bread, cheese, cured meat and ready meals. With very low blood pressure the opposite applies.
2 g a day lowers LDL by about 8–10 % after 3–4 weeks. In the familial form this comes in addition to treatment and does not replace it — the cause lies in the receptor.
Monacolin K is chemically the same as the statin lovastatin — it is not a gentler remedy but the same one at a varying dose. Side effects and interactions are identical, but the amount in the capsule is not checked.
Effects on inflammation and triglycerides established; cardiovascular prevention is mixed. Watch quality and freshness.
Effective when deficient; effects on sleep and stress plausible but moderate. Too much causes loose stool.
Before a very high LDL is classed as inherited, the values that also drive it up belong checked: underactive thyroid, kidney disease, liver. A treated underactive thyroid lowers the LDL noticeably on its own.
In pregnancy the blood fats rise strongly anyway, and the usual medicines are stopped. That belongs discussed before a planned pregnancy — not afterwards.
Because the trait comes from one parent, it affects half the children on average. Testing the family is the single most effective measure here — it finds people who feel nothing yet.
In the familial form diet lowers LDL by about 10–15 % — helpful, but the cause lies in the receptor. Studied is keeping saturated fat below 7 % of daily energy, about 15 g at 2000 kcal.
5–10 g soluble fibre a day lowers LDL by about 5 %, 2 g plant sterols by about 8–10 % after 3–4 weeks. In FH neither replaces treatment; they come on top.
Lowers LDL by about 10–15 %. In the familial form the cause lies in the receptor — dietary change comes in addition to treatment, it does not replace it.
Widely used for muscle pain on statins. Controlled trials found no clear difference from placebo — personal reports diverge.