Transient infantile hypertriglyceridemia and hepatosteatosis

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ORPHA:300293OMIM:619324K76.0
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Overview

Transient infantile hypertriglyceridemia and hepatosteatosis (sometimes abbreviated as TIHHS) is a rare metabolic condition that affects babies during infancy. In this condition, infants develop very high levels of triglycerides (a type of fat) in their blood, along with fatty liver (hepatosteatosis), meaning fat builds up in the liver. The word 'transient' is key — this condition is temporary and typically resolves on its own as the child grows, usually by the time they are a toddler or in early childhood. The condition is caused by genetic changes that temporarily affect how the body processes fats during infancy. Babies with this condition may have an enlarged liver, elevated liver enzymes found on blood tests, and very high triglyceride levels that can sometimes be detected because the blood appears milky or creamy (lipemic). Some infants may also show poor feeding, failure to thrive, or abdominal swelling. Because the condition resolves with time, treatment is mainly supportive. Doctors may recommend dietary modifications, such as using medium-chain triglyceride (MCT)-enriched formulas, to help manage fat levels while the infant's metabolism matures. Close monitoring of blood fat levels and liver function is important. The long-term outlook is generally very good, as most children outgrow the condition completely without lasting liver damage or metabolic problems.

Also known as:

Key symptoms:

Very high triglyceride (fat) levels in the bloodFatty liver (fat buildup in the liver)Enlarged liverElevated liver enzymes on blood testsMilky or creamy-looking bloodAbdominal swelling or distensionPoor feeding or difficulty feedingFailure to thrive or poor weight gainIrritabilityPale or fatty stools

Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Infantile

Begins in infancy, roughly 1 month to 2 years old

Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

2 events
Jan 2026ZIRGAN: New indication approved
FDAcompleted
Sep 2009

Zirgan: FDA approved

Treatment of acute herpetic keratitis (dendritic ulcers)

FDAcompleted

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

1 available

Zirgan

ganciclovir· Sirion Therapeutics, Inc.Orphan Drug

Treatment of acute herpetic keratitis (dendritic ulcers)

No actively recruiting trials found for Transient infantile hypertriglyceridemia and hepatosteatosis at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Transient infantile hypertriglyceridemia and hepatosteatosis community →

No specialists are currently listed for Transient infantile hypertriglyceridemia and hepatosteatosis.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Transient infantile hypertriglyceridemia and hepatosteatosis.

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Community

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.How high are my baby's triglyceride levels, and how often will they be monitored?,What type of formula or diet should my baby be on, and for how long?,How will we know when the condition is resolving?,Are there any signs I should watch for at home that would need urgent medical attention?,Does my baby need a liver ultrasound, and how often should it be repeated?,Should my other children or future children be tested for this condition?,Are there any long-term effects I should be aware of even after the condition resolves?

Common questions about Transient infantile hypertriglyceridemia and hepatosteatosis

What is Transient infantile hypertriglyceridemia and hepatosteatosis?

Transient infantile hypertriglyceridemia and hepatosteatosis (sometimes abbreviated as TIHHS) is a rare metabolic condition that affects babies during infancy. In this condition, infants develop very high levels of triglycerides (a type of fat) in their blood, along with fatty liver (hepatosteatosis), meaning fat builds up in the liver. The word 'transient' is key — this condition is temporary and typically resolves on its own as the child grows, usually by the time they are a toddler or in early childhood. The condition is caused by genetic changes that temporarily affect how the body proces

How is Transient infantile hypertriglyceridemia and hepatosteatosis inherited?

Transient infantile hypertriglyceridemia and hepatosteatosis follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Transient infantile hypertriglyceridemia and hepatosteatosis typically begin?

Typical onset of Transient infantile hypertriglyceridemia and hepatosteatosis is infantile. Age of onset can vary across affected individuals.