Overview
Familial episodic pain syndrome with predominantly upper body involvement is an extremely rare inherited condition that causes repeated episodes of intense pain, mainly affecting the upper parts of the body such as the arms, shoulders, chest, and sometimes the neck and jaw. The pain episodes typically begin in early childhood and can be triggered by factors such as cold weather, physical exertion, fatigue, or illness. During an episode, the pain can be severe and debilitating, often lasting from minutes to hours or even days. Between episodes, affected individuals usually feel normal and do not have ongoing pain. This condition belongs to a group of disorders known as familial episodic pain syndromes, which are caused by changes in genes that control how nerve cells send pain signals. Specifically, this form is linked to mutations in the TRPA1 gene, which encodes a protein involved in sensing pain and temperature. The faulty protein makes pain-sensing nerves overly excitable, leading to episodes of pain without any tissue damage. There is currently no cure for this condition. Treatment focuses on managing pain during episodes and trying to prevent triggers. Pain relief medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) or other analgesics may be used, though responses to treatment can vary. Some patients find that avoiding known triggers helps reduce the frequency and severity of episodes. Because the condition is so rare, treatment approaches are often individualized based on each patient's experience.
Key symptoms:
Episodes of severe pain in the upper bodyPain in the arms and shouldersChest pain during episodesPain in the neck or jaw areaPain triggered by cold temperaturesPain triggered by physical exertion or fatiguePain triggered by fasting or hungerEpisodes that come and go with pain-free intervalsSweating during pain episodesFlushing or redness of the skin during episodesStiffness in affected areas during episodesDifficulty using arms or upper body during episodes
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Familial episodic pain syndrome with predominantly upper body involvement.
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Specialists
View all specialists →No specialists are currently listed for Familial episodic pain syndrome with predominantly upper body involvement.
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 Familial episodic pain syndrome with predominantly upper body involvement.
Community
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Caregiver 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 triggers should my family and I try to avoid to reduce pain episodes?,What pain medications are safest and most effective for this condition?,Are there any new treatments or clinical trials we should know about?,Should other family members be tested for the TRPA1 gene mutation?,How can we best manage pain episodes at home versus when should we seek emergency care?,Will the episodes change in frequency or severity as my child grows older?,Can you refer us to a pain management specialist experienced with rare genetic pain conditions?
Common questions about Familial episodic pain syndrome with predominantly upper body involvement
What is Familial episodic pain syndrome with predominantly upper body involvement?
Familial episodic pain syndrome with predominantly upper body involvement is an extremely rare inherited condition that causes repeated episodes of intense pain, mainly affecting the upper parts of the body such as the arms, shoulders, chest, and sometimes the neck and jaw. The pain episodes typically begin in early childhood and can be triggered by factors such as cold weather, physical exertion, fatigue, or illness. During an episode, the pain can be severe and debilitating, often lasting from minutes to hours or even days. Between episodes, affected individuals usually feel normal and do no
How is Familial episodic pain syndrome with predominantly upper body involvement inherited?
Familial episodic pain syndrome with predominantly upper body involvement follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Familial episodic pain syndrome with predominantly upper body involvement typically begin?
Typical onset of Familial episodic pain syndrome with predominantly upper body involvement is childhood. Age of onset can vary across affected individuals.