Living with Transient infantile hypertriglyceridemia and hepatosteatosis
A rare genetic condition in infants with an enlarged fatty liver and high blood fats that improve with age.
Understanding Transient infantile hypertriglyceridemia and hepatosteatosis
Infants may have trouble gaining weight, vomiting, and a swollen belly. The fatty liver can later be followed by scarring (fibrosis). Triglyceride levels drop or return to normal as a child gets older.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Enlarged liver (hepatomegaly)
- Scarring of the liver (hepatic fibrosis)
- Enlarged spleen (splenomegaly)
- Vomiting
- Short stature
- Trouble gaining weight
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 GPD1 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
This condition is caused by changes in the GPD1 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: transient infantile hypertriglyceridemia and fatty liver
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 Transient infantile hypertriglyceridemia and hepatosteatosis.
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