Living with Hyperlipidemia due to hepatic triglyceride lipase deficiency
An inherited condition affecting how the body breaks down fats, leading to high triglycerides and cholesterol in the blood.
Understanding Hyperlipidemia due to hepatic triglyceride lipase deficiency
People have more triglycerides and cholesterol in the blood. They have more high-density lipoproteins (HDL) and fewer low-density lipoproteins (LDL), and LDL particles are often unusually large. Some people develop hardened arteries and heart disease in mid-adulthood, while others do not. It is unknown whether the risk is greater than for the general population.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Chest pain (angina)
- Small yellow fatty skin bumps (eruptive xanthomas)
- Early heart artery disease
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in LIPC are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the LIPC gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: hepatic lipase deficiency; hyperlipidemia due to hepatic lipase deficiency; hyperlipidemia due to hepatic triacylglycerol lipase deficiency; hyperlipidemia due to hl deficiency; hyperlipidemia due to htgl deficiency; lipc deficiency
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hyperlipidemia due to hepatic triglyceride lipase deficiency.
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