Myalgia-eosinophilia syndrome associated with tryptophan

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Overview

Myalgia-eosinophilia syndrome associated with tryptophan, also known as eosinophilia-myalgia syndrome (EMS), is a systemic disorder that was first identified in 1989 in association with the ingestion of contaminated L-tryptophan dietary supplements. The condition is characterized by severe, debilitating myalgia (muscle pain) and marked peripheral eosinophilia (elevated eosinophil counts in the blood, typically greater than 1,000 cells per microliter). The disease affects multiple body systems including the musculoskeletal, dermatological, neurological, and pulmonary systems. Key clinical features include intense muscle pain, skin changes such as scleroderma-like skin thickening and fasciitis, peripheral neuropathy, fatigue, hair loss, skin rashes, and respiratory symptoms including cough and dyspnea. Some patients develop ascending polyneuropathy, cognitive difficulties, and cardiac involvement. The condition can range from mild to life-threatening, and in the original epidemic, several deaths were reported. The syndrome was linked to specific contaminants (including a compound known as 'Peak E' or 1,1'-ethylidenebis[tryptophan]) found in L-tryptophan produced by a single manufacturer. Treatment is primarily supportive and includes discontinuation of L-tryptophan supplementation, corticosteroids to reduce inflammation and eosinophilia, and symptomatic management of pain, neuropathy, and skin manifestations. While many patients improve after withdrawal of the offending supplement and corticosteroid therapy, some develop chronic symptoms including persistent myalgia, neuropathy, and skin changes that may require long-term management. There is no specific curative therapy, and the chronic phase of the disease can be difficult to treat.

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Abnormal pleura morphologyHP:0002103Flat occiputHP:0005469
Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Myalgia-eosinophilia syndrome associated with tryptophan.

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No specialists are currently listed for Myalgia-eosinophilia syndrome associated with tryptophan.

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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

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Common questions about Myalgia-eosinophilia syndrome associated with tryptophan

What is Myalgia-eosinophilia syndrome associated with tryptophan?

Myalgia-eosinophilia syndrome associated with tryptophan, also known as eosinophilia-myalgia syndrome (EMS), is a systemic disorder that was first identified in 1989 in association with the ingestion of contaminated L-tryptophan dietary supplements. The condition is characterized by severe, debilitating myalgia (muscle pain) and marked peripheral eosinophilia (elevated eosinophil counts in the blood, typically greater than 1,000 cells per microliter). The disease affects multiple body systems including the musculoskeletal, dermatological, neurological, and pulmonary systems. Key clinical feat

How is Myalgia-eosinophilia syndrome associated with tryptophan inherited?

Myalgia-eosinophilia syndrome associated with tryptophan follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Myalgia-eosinophilia syndrome associated with tryptophan typically begin?

Typical onset of Myalgia-eosinophilia syndrome associated with tryptophan is adult. Age of onset can vary across affected individuals.