Familial episodic pain syndrome

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Obesity, Sleep & Internal medicine
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Familial episodic pain syndrome
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Episodic pain, abdominal pain, muscle pain
Complications	N/A
Onset	Childhood
Duration	Episodic
Types	N/A
Causes	Genetic mutation
Risks	Family history
Diagnosis	Genetic testing, clinical evaluation
Differential diagnosis	Irritable bowel syndrome, abdominal migraine
Prevention	N/A
Treatment	Pain management, lifestyle modifications
Medication	N/A
Prognosis	N/A
Frequency	Rare
Deaths	N/A

Familial episodic pain syndrome (FEPS) is a rare genetic disorder characterized by episodes of pain, usually triggered by fatigue, fasting, or physical stress. The condition is inherited in an autosomal dominant manner, meaning that an affected person has a 50% chance of passing the disorder onto each of their children.

Symptoms

The primary symptom of familial episodic pain syndrome is recurrent episodes of pain, typically in the limbs and torso. The pain is often described as a deep, aching sensation that can last from hours to days. Other symptoms can include fatigue, nausea, and in some cases, fever. The frequency and severity of episodes can vary widely among affected individuals.

Causes

Familial episodic pain syndrome is caused by mutations in the TRPA1 gene. This gene provides instructions for making a protein that is involved in the detection of harmful substances and signals for inflammation and pain. Mutations in the TRPA1 gene lead to an overactive protein, which can trigger pain signals in response to normal activities or mild stress.

Diagnosis

Diagnosis of familial episodic pain syndrome is based on the presence of characteristic symptoms, a family history of the disorder, and genetic testing to identify a mutation in the TRPA1 gene. Because the condition is so rare, it can often be misdiagnosed as other conditions that cause recurrent pain, such as fibromyalgia or chronic fatigue syndrome.

Treatment

There is currently no cure for familial episodic pain syndrome, and treatment is focused on managing symptoms. This can include pain relievers, anti-inflammatory drugs, and lifestyle modifications to avoid triggers. Some individuals may also benefit from physical therapy or other non-drug therapies.

Prognosis

The long-term outlook for individuals with familial episodic pain syndrome can vary. Some people may have mild symptoms and infrequent episodes, while others may experience severe pain and frequent episodes that interfere with daily life. However, the condition does not appear to affect lifespan.

See also

• Pain management
• Genetic disorder
• TRPA1

NIH genetic and rare disease info

• NIH info on Familial episodic pain syndrome

Familial episodic pain syndrome is a rare disease.