Living with Lipase deficiency, combined
A rare inherited condition with high blood fat (triglycerides) that can lead to pancreatitis and diabetes.
Understanding Lipase deficiency, combined
Triglycerides are a type of fat. The condition can lead to related health problems. It usually shows up in adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Inability to make and keep healthy fat tissue (lipodystrophy)
- Type 2 diabetes
- Inflammation of the pancreas (pancreatitis)
- Fatty yellow skin bumps (tuberous xanthoma)
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 LMF1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National Pancreas Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: National Pancreas Foundation
- 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 National Pancreas Foundation
- 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
It is caused by a change in the LMF1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: combined lipase deficiency; familial lipase maturation factor 1 deficiency; familial lmf1 deficiency; lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency; lpl and hl deficiency; lpl and htgl deficiency
Patient organizations
- National Pancreas FoundationLipase deficiency, combined · United States
You are more than your diagnosis
Perspectives from people navigating life with Lipase deficiency, combined.
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