[Durgical](https://durgical.com/en/) › [DurgiPedia](https://durgical.com/en/durgipedia/) › [Conditions](https://durgical.com/en/conditions/) › Familial dysbetalipoproteinemia (type III hyperlipoproteinemia)

[Conditions](https://durgical.com/en/conditions/) · [Metabolism: cholesterol and lipoproteins](https://durgical.com/en/conditions/)

# Familial dysbetalipoproteinemia (type III hyperlipoproteinemia)

An inherited disorder in which the liver poorly clears lipoprotein remnants; cholesterol and triglycerides rise and xanthomas appear.

Updated 2026-11-01

## Structures involved

Tap one to see what it is and open it in 3D.

- [LAD (anterior descending artery)](https://durgical.com/en/anatomy/anterior-interventricular-artery/)
- [Femoral artery](https://durgical.com/en/anatomy/femoral-artery/)
- [Right coronary artery](https://durgical.com/en/anatomy/right-coronary-artery/)
- [Popliteal artery](https://durgical.com/en/anatomy/popliteal-artery/)
- [Achilles tendon](https://durgical.com/en/anatomy/calcaneal-tendon/)

## In biochemistry

- [Apolipoprotein E (ApoE)](https://durgical.com/en/biochemistry/enzymes/apolipoprotein-e/)
- [Lipoprotein metabolism](https://durgical.com/en/biochemistry/topics/lipoprotein-metabolism/)
- [VLDL (very-low-density lipoprotein)](https://durgical.com/en/biochemistry/topics/vldl/)
- [Fredrickson classification of hyperlipoproteinaemias](https://durgical.com/en/biochemistry/topics/fredrickson-classification-of-hyperlipoproteinaemias/)

## What it is

A dyslipidaemia caused by ApoE that binds receptors poorly (almost always the ε2/ε2 genotype), with build-up of chylomicron and VLDL remnants.

## Who gets it

About 1% of people carry ε2/ε2, but only a small share develop the disease, because a second factor is needed. It appears in adulthood; in women, often after menopause.

## Causes

- ApoE2 homozygosity (ε2/ε2), recessive inheritance
- Rarely, dominant APOE variants
- A second factor: obesity, diabetes, hypothyroidism, alcohol or menopause

## Risk factors

- ε2/ε2 genotype
- Obesity and insulin resistance
- Hypothyroidism
- Alcohol use

## Pathophysiology

ApoE2 has cysteine at positions 112 and 158 and binds the LDL receptor and LRP1 poorly. Chylomicron and VLDL remnants (cholesterol-rich β-VLDL) stay in the blood; macrophages take them up, forming xanthomas and plaques. Cholesterol and triglycerides rise in similar proportion.

## Symptoms and signs

- Xanthomas in the palm creases (xanthoma striatum palmare, very typical)
- Tuberoeruptive xanthomas on elbows and knees
- Angina at a young age
- Calf pain when walking (claudication)

## Red flags

- [Chest](https://durgical.com/en/anatomy/region/chest/) pain or claudication with high cholesterol and triglycerides
- Stroke symptoms
- Non-healing toe ulcers

## Diagnosis

**Clinical**
Palmar or tuberoeruptive xanthomas with cholesterol and triglycerides raised in similar proportions.

**Tests**
Lipid panel; ApoB relatively low for the non-HDL cholesterol; lipoprotein electrophoresis or ultracentrifugation (broad beta band); APOE genotype; TSH, glucose and [liver](https://durgical.com/en/anatomy/liver/) tests to find the second factor.

**Imaging**
Arterial Doppler ultrasound or CT angiography when there is vascular disease.

## Treatment

**Lifestyle**
Weight loss, better diet and less alcohol (usually responds very well)

**Medical**
Treatment of hypothyroidism and diabetes

**Medical**
Statins and fibrates

**Follow-up**
Lipid and cardiovascular risk follow-up

## Complications

- Premature coronary disease
- Peripheral artery disease
- Stroke
- Pancreatitis if triglycerides rise very high

## Prognosis

It responds well to diet and drugs; the outlook depends on controlling atherosclerosis.

## Test yourself

Think of the answer, then tap the question to see it.

## Which APOE genotype is linked to type III hyperlipoproteinaemia?

ε2/ε2.

## Which lipoproteins build up in dysbetalipoproteinaemia?

Chylomicron and VLDL remnants (IDL or β-VLDL).

## Which xanthoma is almost diagnostic of this disease?

Xanthoma striatum palmare, in the palm creases.

## Why do not all ε2/ε2 people develop the disease?

A second factor that raises remnants, such as obesity, diabetes or hypothyroidism, is needed.

[Add to my cards (4)](https://durgical.app/estudiar/?add=/en/conditions/familial-dysbetalipoproteinemia/)

## Related conditions

- [Familial hypercholesterolemia](https://durgical.com/en/conditions/familial-hypercholesterolemia/)
- [Atherosclerosis and dyslipidaemia](https://durgical.com/en/conditions/atherosclerosis-and-dyslipidaemia/)
- [Peripheral artery disease](https://durgical.com/en/conditions/peripheral-artery-disease/)
- [Hypothyroidism](https://durgical.com/en/conditions/hypothyroidism/)

Educational information, not medical advice. For any symptom, see a health professional.

Sources: [Familial dysbetalipoproteinemia: MedlinePlus Medical Encyclopedia](https://medlineplus.gov/ency/article/000402.htm) (MedlinePlus, US National Library of Medicine, 2026); [APOE gene: MedlinePlus Genetics](https://medlineplus.gov/genetics/gene/apoe/) (MedlinePlus, US National Library of Medicine, 2026).

[← All conditions](https://durgical.com/en/conditions/)

## **Spotted a mistake?** We are always improving for the community. Tell us what is wrong and our team will review it. Report a mistake

Representative model, for educational purposes only.

---
Source: https://durgical.com/en/conditions/familial-dysbetalipoproteinemia/
License: CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). Cite as: DurgiPedia (durgical.com), https://durgical.com/en/conditions/familial-dysbetalipoproteinemia/