familial episodic pain syndrome 3

Familial Episodic Pain Syndrome-3 (FEPS3) is an autosomal dominant disorder characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes affecting the upper extremities as well [8][10]. The pain comes in cycles lasting several days, is exacerbated by fatigue, may be accompanied by other symptoms such as changes in weather or physical stress/exertion, and may or may not diminish with age [4][11].

FEPS3 typically manifests in infancy, with the disease manifesting as episodic pain in the distal limbs [7]. The exact cause of FEPS3 is unknown, but it is believed to be a genetic condition that is inherited in an autosomal dominant pattern [2][9].

Symptoms of FEPS3 may include:

• Intense episodic pain in the distal lower extremities or upper extremities
• Pain cycles lasting several days
• Exacerbation by fatigue, changes in weather, physical stress/exertion
• May be accompanied by other symptoms such as changes in mood or appetite

It's worth noting that FEPS3 is a rare condition and more research is needed to fully understand its causes and effects.

Familial Episodic Pain Syndrome 3 (FEPS3) is a rare genetic disorder characterized by intense episodic pain, primarily affecting the distal lower extremities but sometimes also involving the upper extremities. The symptoms of FEPS3 can vary slightly from person to person, but they typically include:

• Intense episodic pain: This is the primary symptom of FEPS3, and it can occur in cycles lasting several days.
• Numbness and tingling sensations: Many people with FEPS3 experience numbness or tingling sensations in their affected limbs.
• Burning sensations: Some individuals may also experience burning sensations in their affected areas.
• Sweating: Sweating is a common symptom of FEPS3, often occurring during episodes of pain.
• Tachycardia and breathing difficulties: In some cases, people with FEPS3 may experience rapid heart rate (tachycardia) and breathing difficulties during episodes of pain.
• Pallor: Some individuals may also experience pallor (pale skin) during episodes of pain.

These symptoms can be triggered or exacerbated by factors such as fatigue, cold exposure, fasting, weather changes, and physical stress or exertion. It's worth noting that the condition may or may not improve with age [10][11][12].

In infants, the onset of FEPS3 typically occurs early in life, manifesting as episodic pain in the distal limbs [6]. As individuals grow older, the symptoms can persist or change over time.

It's essential to consult a healthcare professional for an accurate diagnosis and proper management of FEPS3.

Based on the available information, it appears that Familial Episodic Pain Syndrome 3 (FEPS3) is a rare genetic disorder characterized by intense episodic pain mainly affecting the distal lower extremities.

Diagnostic Tests:

• Exome-based NextGen sequencing with CNV analysis is considered an effective approach for diagnosing FEPS3, as it allows for cost-effective reflexing to PGxome or other exome-based tests [number 3].
• 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, including those with a history of lower extremity involvement triggered by fatigue [number 2].

Genetic Testing:

• Genetic testing can reveal mutations in the SCN11A gene, which is associated with FEPS3. For example, heterozygous mutations c.674G > T and c.671T > C in the SCN11A gene have been identified as causing pain in individuals with FEPS3 [number 7].

Other Considerations:

• Familial episodic pain syndrome is a rare genetic peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain in the upper body or lower limbs. This condition may be considered when diagnosing FEPS3 [number 8].
• A subtype of familial episodic pain syndrome, known as FEPS3, is characterized by intense, episodic and/or cyclic pain mainly localized in the distal lower limbs [number 9].

It's worth noting that Familial Episodic Pain Syndrome 3 (FEPS3) is an autosomal dominant disorder caused by mutation in the SCN11A gene, which is a rare genetic condition. The diagnostic tests mentioned above are considered effective approaches for diagnosing FEPS3.

References: [number 2], [number 3], [number 7], [number 8], and [number 9]

Treatment Options for Familial Episodic Pain Syndrome 3 (FEPS3)

Familial episodic pain syndrome 3 (FEPS3) is a rare genetic disorder characterized by intense, episodic pain in the distal lower extremities. While there is no specific cure for FEPS3, various treatment options can help manage the symptoms and improve quality of life.

Pain Management

• Nonsteroidal anti-inflammatory drugs (NSAIDs): These medications can provide relief from pain and inflammation. However, their effectiveness may vary depending on individual cases [10].
• Mexiletine, lidocaine, and carbamazepine: These nonselective sodium channel blockers are currently used as analgesics to reduce pain symptoms [6].

Other Treatment Options

• Warmth and cold avoidance: Keeping warm and avoiding cold environments can help alleviate pain symptoms [4].
• Painkillers: The main treatment for FEPS3 is the use of painkillers to reduce pain symptoms, in addition to keeping warm and avoiding cold environments [10].

Current Research and Future Directions

While there are some treatment options available, more research is needed to develop specific therapies for FEPS3. Novel TRPA1 antagonists have shown promise as multimodal blockers of human TRPA1 channels, which could be a potential treatment option for FEPS3 [15].

Familial Episodic Pain Syndrome 3 (FEPS3) is a rare genetic disorder characterized by intense episodic pain, primarily affecting the distal lower extremities in early childhood. When making a differential diagnosis for FEPS3, it's essential to consider other conditions that may present with similar symptoms.

Primary or secondary Small Fiber Neuropathy (SFN): SFN should be considered as part of the differential diagnosis for FEPS3, particularly when patients experience pain and sensory disturbances in their extremities [9][1]. This condition is a relatively common clinical diagnosis that can mimic the symptoms of FEPS3.

Vasculitis: Vasculitic diseases, such as polyarteritis nodosa or giant cell arteritis, should also be considered in the differential diagnosis for FEPS3. These conditions can cause recurrent episodes of pain and inflammation in the extremities [1].

Thrombotic diseases: Thrombotic disorders, like thrombophlebitis or deep vein thrombosis, may present with similar symptoms to FEPS3, including pain and swelling in the affected limbs [1].

Rheumatic diseases: Rheumatological conditions, such as rheumatoid arthritis or lupus, can also be considered in the differential diagnosis for FEPS3. These conditions often involve chronic inflammation and pain in the joints and extremities [1].

In addition to these conditions, other factors that may contribute to the differential diagnosis of FEPS3 include:

• SCN9A-PEPD: This is a rare genetic disorder characterized by neonatal or infantile onset of autonomic manifestations, including skin flushing and harlequin color change. It's essential to consider this condition when evaluating patients with symptoms similar to FEPS3 [8].
• SCN11A familial episodic pain syndrome: This is another rare genetic disorder that presents with recurrent episodes of intense pain in the hands and feet, accompanied by autonomic features like hyperhidrosis and diarrhea [11].

When making a differential diagnosis for FEPS3, it's crucial to consider these conditions and factors to ensure accurate identification and treatment of the underlying cause.

References:

[1] Context result 9 [8] Context result 8 [11] Context result 11