paroxysmal extreme pain disorder

Paroxysmal Extreme Pain Disorder (PEPD): A Rare and Debilitating Condition

Paroxysmal extreme pain disorder, also known as familial rectal pain syndrome, is a rare and genetic neurological disorder characterized by severe episodic pain in various parts of the body, accompanied by skin redness and warmth (flushing).

Key Features:

• Severe episodic pain in areas such as the mandibular, ocular, and rectal regions [1]
• Skin redness and warmth (flushing) corresponding to the site of pain [2]
• Pain attacks usually lasting seconds to minutes [2]
• Flushing typically occurs at the site of pain [3]

Symptoms:

• Severe episodic perirectal pain accompanied by skin flushing, often precipitated by defecation [4]
• Ocular and submaxillary pain associated with triggers such as cold or other irritants may become more prominent with age [5]
• Skin redness and warmth (flushing) in various parts of the body [6]

Inheritance:

• Autosomal dominant disorder, meaning a single copy of the mutated gene is sufficient to cause the condition [9][10]
• Condition is inherited from one's parents, with each child having a 50% chance of inheriting the mutated gene [12]

Age of Onset:

• Symptoms often first manifest at the beginning of life, perhaps even in utero [1]
• Infants may appear stiff and red at the time of delivery, but recover within minutes [11]

Misdiagnosis:

• Condition is most likely to be misdiagnosed as epilepsy and, particularly in infancy, as hyperekplexia and reflex anoxic seizures [6]

References:

[1] - Context 1 [2] - Context 2 & 7 [3] - Context 3 [4] - Context 5 [5] - Context 8 [6] - Context 9 & 13

Characteristics of Paroxysmal Extreme Pain Disorder

Paroxysmal extreme pain disorder (PEPD) is a rare condition characterized by severe pain attacks accompanied by skin redness and warmth (flushing). The symptoms of PEPD can vary, but common signs include:

• Severe pain attacks: These can occur in various parts of the body, including the perirectal region, genitals, limbs, and face. The pain is often described as intense and debilitating.
• Skin redness and warmth (flushing): This symptom typically corresponds to the site of the pain and can be accompanied by sweating and other autonomic responses.
• Episodic nature: PEPD symptoms tend to occur in episodes or attacks, which can last from seconds to minutes.

Additional Symptoms

Some individuals with PEPD may experience additional symptoms, including:

• Ocular and submaxillary pain: Pain in these areas can become more prominent with age.
• Constipation: Constipation is a common problem due to the association of episodes with passing stool.
• Seizures and changes in breathing and heart rate: In some cases, PEPD may be accompanied by seizures or changes in breathing and heart rate.

Age of Onset

PEPD symptoms can manifest at various ages, including:

• Neonatal period: Symptoms have been reported as early as at the time of delivery.
• Infancy: The condition often presents in early infancy, with some cases occurring prenatally.
• Childhood and adulthood: PEPD symptoms can persist throughout life.

References

[1] (Source 3) - Paroxysmal extreme pain disorder is a condition characterized by skin redness and warmth (flushing) and attacks of severe pain in various parts of the body. [2] (Source 5) - Characterized by skin redness, flushing, and severe pain attacks in various parts of the body. [3] (Source 9) - In summary, PEPD tends to present in the neonatal period with predominant autonomic features, flushing, tonic attacks, harlequin color change, and severe pain.

Diagnostic Tests for Paroxysmal Extreme Pain Disorder

Paroxysmal extreme pain disorder (PEPD) diagnosis heavily relies on a patient's medical history, physical exams, and laboratory test results [2]. The following diagnostic tests are used to confirm the presence of PEPD:

• Clinical Genetic Test: A clinical genetic test offered by Laboratorio de Genetica Clinica SL can diagnose conditions such as Paroxysmal extreme pain disorder [3].
• DNA Sequencing: DNA sequencing has a sensitivity of over 99% for detecting nucleotide base changes, small deletions, and insertions in the regions analyzed [6]. This test is used to identify genetic mutations associated with PEPD.
• Nerve Conduction Studies: Nerve conduction studies can help diagnose PEPD by identifying abnormal nerve function and pain attacks with swelling and erythema [7].
• Diagnostic Tests for SCN9A-NPS: The diagnosis of SCN9A neuropathic pain syndromes (SCN9A-NPS), which include PEPD, is established in a proband with a heterozygous pathogenic variant in SCN9A identified by molecular genetic testing [12].

Patient Organisation and Resources

The following patient organisation may maintain a list of experts or expert centers for people living with Paroxysmal extreme pain disorder:

• The Foundation for Peripheral Neuropathy
• GARD Genetic and Rare Diseases Information Center

These organisations can provide information on diagnostic tests, treatment options, and genetic counseling.

References: [2] - Context 2 [3] - Context 3 [6] - Context 6 [7] - Context 7 [12] - Context 12

Treatment Options for Paroxysmal Extreme Pain Disorder

Paroxysmal extreme pain disorder (PEPD) is a rare and debilitating condition characterized by severe pain attacks, skin redness, and flushing. While there is no cure for PEPD, various treatment options are available to manage the symptoms and improve quality of life.

Sodium Channel Inhibitors

Treatment for PEPD often involves the use of sodium channel inhibitors, which can help reduce the frequency and severity of pain attacks [12]. These medications work by blocking the activity of sodium channels in nerve cells, thereby reducing the transmission of pain signals to the brain.

• Carbamazepine: This is a commonly used medication for PEPD, as it has been shown to be partially effective in reducing the number or severity of pain attacks [1]. High doses of carbamazepine may be required to achieve optimal results.
• Antiepileptic drugs: These medications can also be used to manage PEPD symptoms. They work by stabilizing electrical activity in the brain and nervous system, which can help reduce pain transmission [12].
• Tricyclic antidepressants: These medications can be used to treat co-existing depression or anxiety symptoms that may accompany PEPD.
• Inhibitors of serotonin and noradrenaline reabsorption: These medications can also be used to manage PEPD symptoms by regulating the levels of neurotransmitters involved in pain transmission.

Other Treatment Options

While these treatment options are available, it's essential to note that there is currently no causal treatment for paroxysmal extreme pain disorder [12]. A healthcare professional should be consulted to determine the best course of treatment and management plan for each individual case.

References:

[1] Paroxysmal extreme pain disorder originally named familial rectal pain syndrome, ... Treatment. Carbamazepine is at least partly effective at reducing the number or severity of attacks in PEPD patients. [12] Currently, we do not have any causal treatment for paroxysmal extreme pain disorder. Treatment is based on the use of sodium channel inhibitors. Antiepileptic drugs, tricyclic antidepressants and inhibitors of the reabsorption of serotonin and noradrenaline are used.

Paroxysmal extreme pain disorder (PEPD) has several differential diagnoses, which are conditions that may present with similar symptoms but have distinct underlying causes.

• Primary erythermalgia: This is a condition characterized by recurrent episodes of burning pain and skin redness, particularly in the hands and feet. Like PEPD, primary erythermalgia can cause significant discomfort and disability.
• Hyperekplexia: Also known as startle disease, hyperekplexia is a rare genetic disorder that affects the nervous system. It can cause sudden, severe muscle contractions and episodes of pain, which may be similar to those experienced in PEPD.
• Fabry disease: This is a genetic disorder caused by a deficiency of the enzyme alpha-Gal A. Fabry disease can lead to painful episodes, particularly in the hands and feet, as well as other symptoms such as skin redness and kidney problems.
• Complex regional pain syndrome (CRPS): CRPS is a condition characterized by chronic pain and inflammation in one or more limbs. While it may not present with the same episodic nature as PEPD, CRPS can cause significant pain and disability.

These differential diagnoses are important to consider when evaluating patients with symptoms of PEPD, as they require distinct approaches to diagnosis and treatment [1][2][3][4].

References: [1] Fertleman et al. (2007) - Paroxysmal extreme pain disorder: a review of the literature. [2] Fertleman et al. (2006) - The distinctive features of paroxysmal extreme pain disorder. [3] Chapter 84, Differential diagnosis (See Chapter 84) [4] Part II: Differential diagnoses and management, Journal of the American Academy of Dermatology, 90, 3, (465-474)