Living with Paroxysmal extreme pain disorder
A genetic condition with attacks of severe pain and skin flushing that can begin in infancy.
Understanding Paroxysmal extreme pain disorder
The flushed area usually matches the area of pain. Attacks last seconds to minutes, but sometimes hours, and can start in infancy. Early in life, pain is often in the lower body and triggered by a bowel movement. Later, the pain moves to the head and face. Triggers include cold wind, strong emotions, spicy foods, and cold drinks.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Attacks of severe pain
- Skin redness and warmth (flushing)
- Constipation
- Seizures in young children
- Slow heartbeat or short pauses in breathing (young children)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in SCN9A are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: The Foundation for Peripheral Neuropathy
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with The Foundation for Peripheral Neuropathy
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the SCN9A gene cause this condition. It is autosomal dominant, which means one changed copy of the gene is enough to cause it.
Also known as: familial rectal pain; pain, submandibular, ocular, and rectal, with flushing; pexpd; rectal pain, familial; submandibular, ocular and rectal pain with flushing
Patient organizations
- The Foundation for Peripheral NeuropathyParoxysmal extreme pain disorder · United States
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Perspectives from people navigating life with Paroxysmal extreme pain disorder.
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