Overview
Familial episodic pain syndrome (FEPS) is a rare inherited condition that causes repeated episodes of intense pain, most commonly affecting the upper body, arms, and legs. The pain episodes typically begin in infancy or early childhood and can be triggered by factors such as fatigue, cold weather, fasting, or illness. During an episode, a person may experience severe pain in the joints, muscles, or other parts of the body that can last from minutes to days. Some forms of the condition also involve sweating, skin flushing, or other symptoms during pain attacks. The condition is caused by mutations in genes that affect how nerve cells sense and transmit pain signals. These genes are involved in sodium or other ion channels, which are tiny gateways in nerve cells that control electrical signals. When these channels do not work properly, the nerves can become overly sensitive and fire pain signals when they normally would not. There are several subtypes of familial episodic pain syndrome (FEPS1, FEPS2, FEPS3), each linked to a different gene. Treatment is mainly focused on managing pain during episodes. Some patients respond to common pain medications, while others may benefit from specific drugs that target the affected ion channels. There is currently no cure, but many patients find that episodes become less frequent or less severe as they get older.
Also known as:
Key symptoms:
Episodes of severe pain in the arms and legsPain in the upper body, chest, or abdomen during episodesJoint pain during flare-upsSweating during pain episodesSkin flushing or redness during attacksPain triggered by cold weather or temperature changesPain triggered by fatigue or physical stressPain triggered by fasting or not eatingPain triggered by illness or infectionEpisodes that start in infancy or early childhoodPain that comes and goes with symptom-free periods in betweenMuscle stiffness or cramping during episodesDifficulty sleeping during pain episodes
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Familial episodic pain syndrome.
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Specialists
View all specialists →No specialists are currently listed for Familial episodic pain 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 Familial episodic pain syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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.Which subtype of familial episodic pain syndrome does my child have, and which gene is affected?,What are the best medications to manage pain during episodes?,Are there specific triggers we should try to avoid?,Will the episodes get better as my child grows older?,Should other family members be tested for this condition?,Are there any clinical trials or new treatments being studied for this condition?,What should we do if pain becomes severe and does not respond to our usual medications?
Common questions about Familial episodic pain syndrome
What is Familial episodic pain syndrome?
Familial episodic pain syndrome (FEPS) is a rare inherited condition that causes repeated episodes of intense pain, most commonly affecting the upper body, arms, and legs. The pain episodes typically begin in infancy or early childhood and can be triggered by factors such as fatigue, cold weather, fasting, or illness. During an episode, a person may experience severe pain in the joints, muscles, or other parts of the body that can last from minutes to days. Some forms of the condition also involve sweating, skin flushing, or other symptoms during pain attacks. The condition is caused by mutat
How is Familial episodic pain syndrome inherited?
Familial episodic pain syndrome 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 typically begin?
Typical onset of Familial episodic pain syndrome is infantile. Age of onset can vary across affected individuals.