familial episodic pain syndrome 1

Familial Episodic Pain Syndrome 1 (FEPS-1) Description

Familial Episodic Pain Syndrome 1, also known as FEPS-1, is a rare genetic disorder characterized by severe and debilitating upper body pain episodes. These episodes typically begin in infancy and can be triggered by various factors such as fasting or physical stress.

Key Features:

• Autosomal Dominant Inheritance: FEPS-1 is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition.
• Infancy-Onset Pain Episodes: The first pain episodes usually occur during infancy and can be intense and debilitating.
• Upper Body Pain Predominance: The pain episodes primarily affect the upper body, although they may also involve other areas.
• Triggered by Fasting or Physical Stress: FEPS-1 pain episodes are often triggered by fasting or physical stress.

References:

• [2] describes FEPS-1 as an autosomal dominant neurologic disorder characterized by onset in infancy of episodic debilitating upper body pain.
• [4] states that FEPS Type 1 is characterized by infancy-onset intense and debilitating upper-body episodic pain, triggered by fasting and physical stress.

Note: The information provided above is based on the search results and context provided.

Familial Episodic Pain Syndrome (FEPS) 1, also known as Familial Episodic Pain Syndrome-1, is a rare genetic neurologic disorder characterized by recurrent episodes of intense pain in the upper body. The signs and symptoms of FEPS 1 include:

• Episodic debilitating upper body pain: This is the primary symptom of FEPS 1, with episodes of pain occurring in infancy or early childhood.
• Triggered by fasting, cold, and physical stress: These factors can trigger or exacerbate the episodes of pain in individuals with FEPS 1.
• Dyspnea (breathing difficulties): Some individuals may experience breathing difficulties during episodes of pain.
• Tachycardia (rapid heart rate): A rapid heart rate is another symptom that may be present during episodes of pain.
• Sweating: Sweating can occur as a response to the stress and discomfort caused by the pain episodes.
• Pallor (pale skin): Some individuals may experience pallor, or pale skin, during episodes of pain.
• Cyanosis (blue discoloration of the skin): In some cases, cyanosis may be present due to poor circulation.
• Abdominal wall stiffness: This is another symptom that has been reported in individuals with FEPS 1.

These symptoms can vary in severity and frequency from person to person, but they are generally associated with episodes of intense pain. [1][2][3][4][5][6][7][8][9][10][11][12]

References: [1] - Context result 2 [2] - Context result 5 [3] - Context result 8 [4] - Context result 12 [5] - Context result 14 [6] - Context result 15 [7] - Context result 9 [8] - Context result 10 [9] - Context result 11 [10] - Context result 13 [11] - Context result 4 [12] - Context result 1

Diagnostic Tests for Familial Episodic Pain Syndrome-1

Familial episodic pain syndrome-1 (FEPS-1) is a rare genetic neurologic disorder characterized by episodic debilitating upper body pain triggered by fasting, cold, and physical stress. Diagnosing FEPS-1 can be challenging, but several diagnostic tests can help confirm the condition.

• Genetic Testing: Genetic testing for SCN9A mutations is essential for diagnosing FEPS-1. This test involves analyzing DNA samples from affected individuals to identify pathogenic variants in the SCN9A gene [1].
• Clinical Evaluation: A thorough clinical evaluation by a neurologist or geneticist is crucial to rule out other conditions that may cause similar symptoms. The evaluation should include a detailed medical history, physical examination, and review of laboratory results [2].
• Laboratory Tests: Laboratory tests such as complete blood counts, liver function tests, kidney function tests, and trace elements tests are usually normal in individuals with FEPS-1 [3].

Diagnostic Teams

A diagnostic team for FEPS-1 may include:

• Genetics Specialist: A genetics specialist can help identify the genetic cause of FEPS-1 and provide guidance on genetic testing.
• Neurologist: A neurologist can evaluate the individual's symptoms, perform a physical examination, and rule out other neurological conditions.

References

[1] Familial episodic pain syndrome-1 is an autosomal dominant neurologic disorder characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress (summary by Kremeyer et al., 2010).

[2] The ideal test candidates for this Episodic Pain Syndrome panel are individuals who present with recurring episodes of pain and have a family history of FEPS.

[3] There were no abnormalities in the blood tests, blood smears, liver and kidney function tests, trace elements tests, cellular immunity test.

Treatment Options for Familial Episodic Pain Syndrome 1 (FEPS1)

Familial episodic pain syndrome 1 (FEPS1) is a rare genetic disorder characterized by recurrent, intense episodes of pain in the upper body. While there is no specific cure for FEPS1, various treatment options can help manage the symptoms and improve quality of life.

Pain Management

The mainstay of treatment for FEPS1 is pain management using medications such as:

• Mexiletine: A nonselective sodium channel blocker that has been used to reduce pain symptoms in patients with FEPS1 [6].
• Lidocaine: Another nonselective sodium channel blocker that can help alleviate pain in individuals with FEPS1 [6].
• Carbamazepine: An anticonvulsant medication that may also be effective in reducing pain in patients with FEPS1 [6].

Other Treatment Options

In addition to pain management, other treatment options for FEPS1 include:

• Keeping warm and avoiding cold environments: This can help prevent or reduce the frequency of pain episodes [4].
• Avoiding triggers: Identifying and avoiding triggers such as fasting, physical stress, or fatigue can also help manage symptoms [5].

Current Research

Researchers are exploring new treatment options for FEPS1, including:

• TRPA1 antagonists: Novel compounds that target the TRPA1 channel, which is implicated in the pathogenesis of FEPS1 [13].
• Novel sodium channel blockers: New medications that may be effective in reducing pain symptoms in patients with FEPS1.

It's essential to consult with a healthcare professional for personalized medical advice and treatment. They can help determine the best course of action based on individual needs and circumstances.

References:

[4] by P Zhang · 2022 · Cited by 2 [5] Familial episodic pain syndrome-1 is an autosomal dominant neurologic disorder characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress (summary by Kremeyer et al., 2010). [6] Medications such as mexiletine, lidocaine, and carbamazepine are nonselective sodium channel blockers and are currently used as analgesics in patients with FEPS1. [13] Novel TRPA1 Antagonists are Multimodal Blockers of Human TRPA1 Channels: Drug Candidates for Treatment of Familial Episodic Pain Syndrome (FEPS) Jeffrey M. Herz, Jeffrey M. Herz.

Differential Diagnosis of Familial Episodic Pain Syndrome

Familial episodic pain syndromes (FEPS) are a group of rare genetic peripheral neuropathies characterized by recurrent, stereotyped episodes of intense pain. When making a differential diagnosis for FEPS, several conditions should be considered.

• Primary or secondary SFN (Small Fiber Neuropathy): This condition is characterized by damage to the small nerve fibers in the skin, leading to burning pain and sensitivity. SFN can be primary (idiopathic) or secondary due to various underlying causes such as diabetes, autoimmune disorders, or infections.
• Vasculitis: Vasculitis refers to inflammation of the blood vessels, which can lead to damage to the nerves and cause pain. This condition can be caused by various factors such as autoimmune disorders, infections, or medications.
• Thrombotic diseases: Thrombotic diseases, such as deep vein thrombosis or pulmonary embolism, can cause pain due to blood clots forming in the veins or arteries.
• Rheumatic diseases: Rheumatic diseases, such as rheumatoid arthritis or lupus, can cause pain and inflammation in various parts of the body.

These conditions should be considered when making a differential diagnosis for FEPS. It is essential to rule out these conditions through thorough medical evaluation and diagnostic testing before diagnosing FEPS.

References:

• [3] Familial episodic pain syndromes (FEPS) are one of the distinctive syndromes characterized by early-childhood onset of severe episodic pain.
• [4] Familial episodic pain syndrome, also known simply as FEPS, is a group of rare genetic peripheral neuropathies which are characterized by recurrent random episodes of intense pain which occur most often in the upper or lower parts of the body occurring in several members of the same family.
• [9] We describe an autosomal-dominant familial episodic pain syndrome characterized by episodes of debilitating upper body pain, triggered by fasting and physical exercise.