Living with Pancreatic triacylglycerol lipase deficiency
A rare inherited condition in which the body can't absorb dietary fat well, causing oily stools but normal growth.
Understanding Pancreatic triacylglycerol lipase deficiency
It starts in infancy or childhood. People have greasy, bulky stools. Growth and development are normal. Levels of the fat-soluble vitamins A, D, and E can be low.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Greasy stools (steatorrhea)
- Bloated belly
- Belly pain
- Tiredness (fatigue)
- Weight loss
- Trouble digesting food (exocrine pancreatic insufficiency)
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 digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in PNLIP 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
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- 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 PNLIP gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: lipase, congenital absence of pancreatic; pancreatic triglyceride lipase deficiency; pl 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 Pancreatic triacylglycerol lipase deficiency.
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