Familial hypercholesterolaemia
(FH) is a disorder characterized by high levels, specifically very high levels of low-density cholesterol, in the blood and early diseases. The most common diminish the number of functional LDL receptors in the liver or produce abnormal LDL receptors that never go to the cell surface to function properly. Since the underlying body biochemistry is slightly different in individuals with FH, their high cholesterol levels are less responsive to the kinds of cholesterol control methods which are usually more effective in people without FH. Nevertheless, treatment is usually effective.
Underlined words are explained — tap any of them.
The sections below are general education drawn from public guidelines (NHS, Mayo, CPIC, WHO, ICMR). They are not individually reviewed by a clinician and are not medical advice — always talk to a doctor about your own health.
When to see a doctor
See a doctor if a close relative had a heart attack or very high cholesterol at a young age, if your own cholesterol is very high, or if you notice firm lumps over tendons (like the knuckles or heel) or pale rings around the eyes. This inherited condition keeps cholesterol high from a young age.
Get emergency help for chest pain spreading to the arm or jaw, sudden breathlessness, or sudden weakness or slurred speech. Because this condition strongly raises early heart-attack and stroke risk, know these warning signs.
General guidance, not a diagnosis. When in doubt, see a doctor.
Questions to ask your doctor
- ?Which blood tests confirm this, and is genetic testing useful?
- ?Should my parents, siblings, and children be tested?
- ?How high is my heart-disease risk and what are my targets?
- ?Which lifestyle changes help alongside any treatment?
- ?What early warning signs of heart trouble should I watch for?
- ?How often should I be reviewed?
What to note before your visit
- ·family history of early heart attack or high cholesterol
- ·your own past cholesterol results
- ·any tendon lumps or eye changes
- ·current medicines you take
Test yourself
0/4 answered4 quick questions on Familial hypercholesterolaemia. Tap an answer to check it.
Across the gene set (, , ), 75 -'' are actually seen in South Asians () - many European-absent and still clinically 'uncertain'. For familial , that's a pool of computationally-damaging, India-relevant, clinically-unresolved variants no one has systematically characterised.
A study that would help: Take the South-Asian-observed, European-absent, ClinVar-uncertain in , , and them for : functional or family segregation to move them from 'uncertain' to a real call. Each is a usable diagnostic result.