Overview
Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome is an extremely rare condition that affects three major organ systems in the body: the lungs, the liver, and the bone marrow. In this syndrome, the lungs develop pulmonary fibrosis, which means the lung tissue becomes scarred and stiff, making it harder to breathe and get enough oxygen into the blood. The liver shows hepatic hyperplasia, meaning abnormal overgrowth of liver tissue, which can interfere with normal liver function. The bone marrow, which is responsible for making blood cells, becomes hypoplastic — meaning it does not produce enough blood cells. This can lead to low red blood cells (anemia), low white blood cells (increasing infection risk), and low platelets (increasing bleeding risk). Symptoms typically include progressive shortness of breath, fatigue, frequent infections, easy bruising or bleeding, and liver-related problems. Because this syndrome is so rare, treatment options are largely supportive and aimed at managing symptoms in each affected organ system. There is no established cure, and management usually involves a team of specialists working together. The condition may also be referred to by its component features, and its extreme rarity means that much about its natural history and underlying cause remains poorly understood.
Key symptoms:
Shortness of breath that gets worse over timeChronic dry coughFatigue and low energyFrequent infectionsEasy bruising or unusual bleedingPale skin due to anemiaEnlarged liverAbnormal liver functionLow blood cell countsReduced exercise toleranceUnexplained weight lossFeeling of breathlessness even at rest in advanced stages
Clinical phenotype terms (16)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome.
Community
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Start the conversation →Latest news about Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
1 articlesCaregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the current severity of lung, liver, and bone marrow involvement in my case?,Are there any medications that could slow the progression of the lung fibrosis?,How often should blood counts and liver function be monitored?,Should I be evaluated for bone marrow transplant or lung transplant?,What signs or symptoms should prompt me to go to the emergency room?,Is genetic testing recommended for me or my family members?,Are there any clinical trials or research studies I could participate in?
Common questions about Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
What is Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome?
Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome is an extremely rare condition that affects three major organ systems in the body: the lungs, the liver, and the bone marrow. In this syndrome, the lungs develop pulmonary fibrosis, which means the lung tissue becomes scarred and stiff, making it harder to breathe and get enough oxygen into the blood. The liver shows hepatic hyperplasia, meaning abnormal overgrowth of liver tissue, which can interfere with normal liver function. The bone marrow, which is responsible for making blood cells, becomes hypoplastic — meaning it d
How is Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome inherited?
Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.