Heiner syndrome

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ORPHA:99932E83.1+J99.8*
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Overview

Heiner syndrome is a rare pulmonary disease of infancy and early childhood characterized by pulmonary hemosiderosis (iron accumulation in the lungs) caused by hypersensitivity to cow's milk proteins. The condition is also known as milk-induced pulmonary disease or cow's milk-induced pulmonary hemosiderosis. It primarily affects the respiratory system, but gastrointestinal and hematologic systems are also commonly involved. The ICD-10 coding reflects both the iron metabolism disturbance (E83.1+) and the secondary pulmonary manifestation (J99.8*). Key clinical features include chronic or recurrent pulmonary infiltrates, pulmonary hemosiderosis, iron deficiency anemia, failure to thrive, chronic cough, wheezing, hemoptysis, recurrent upper respiratory infections, and gastrointestinal symptoms such as vomiting, diarrhea, and occult blood in stools. Affected children typically have elevated serum precipitins (antibodies) against cow's milk proteins, and peripheral blood eosinophilia may be present. Chest radiographs often reveal diffuse or patchy pulmonary infiltrates. The cornerstone of treatment is strict elimination of cow's milk and cow's milk-based products from the diet, which typically leads to dramatic clinical improvement with resolution of pulmonary infiltrates and improvement in anemia. Symptoms generally recur upon re-exposure to cow's milk proteins. Supportive treatment may include iron supplementation for anemia and, in severe cases, corticosteroids to manage acute pulmonary inflammation. Most children outgrow the condition, and the long-term prognosis is generally favorable with appropriate dietary management and early diagnosis.

Also known as:

Age of Onset

Infantile

Begins in infancy, roughly 1 month to 2 years old

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Heiner syndrome.

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No actively recruiting trials found for Heiner syndrome at this time.

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No specialists are currently listed for Heiner syndrome.

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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 Heiner syndrome.

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Community

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Common questions about Heiner syndrome

What is Heiner syndrome?

Heiner syndrome is a rare pulmonary disease of infancy and early childhood characterized by pulmonary hemosiderosis (iron accumulation in the lungs) caused by hypersensitivity to cow's milk proteins. The condition is also known as milk-induced pulmonary disease or cow's milk-induced pulmonary hemosiderosis. It primarily affects the respiratory system, but gastrointestinal and hematologic systems are also commonly involved. The ICD-10 coding reflects both the iron metabolism disturbance (E83.1+) and the secondary pulmonary manifestation (J99.8*). Key clinical features include chronic or recurr

At what age does Heiner syndrome typically begin?

Typical onset of Heiner syndrome is infantile. Age of onset can vary across affected individuals.