Hyperimmunoglobulin D With Periodic Fever
Disease Details
Family Health Simplified
- Description
- Hyperimmunoglobulin D with periodic fever (HIDS) is a rare genetic autoinflammatory disorder characterized by recurrent episodes of fever, abdominal pain, joint pain, and elevated immunoglobulin D levels.
- Type
- Hyperimmunoglobulin D with periodic fever (HIDS) is an autoinflammatory disease. It is inherited in an autosomal recessive manner.
- Signs And Symptoms
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Hyperimmunoglobulin D with periodic fever syndrome (HIDS) is an autoinflammatory disorder characterized by recurrent episodes of fever and various systemic manifestations. Common signs and symptoms include:
- High fever episodes, often lasting 3 to 7 days
- Abdominal pain
- Joint pain or arthritis
- Skin rashes, particularly on the trunk and extremities
- Swollen lymph nodes
- Mouth sores
- Headaches
- Diarrhea or other gastrointestinal disturbances
These symptoms typically begin in childhood and can recur periodically throughout life. - Prognosis
- The prognosis for Hyperimmunoglobulin D with Periodic Fever (HIDS) is generally favorable in terms of life expectancy, as it is not typically life-threatening. However, patients may experience recurrent episodes of high fever, abdominal pain, joint pain, and skin rashes, which can significantly impact their quality of life. The frequency and severity of these episodes tend to decrease with age. Effective management and treatment strategies can help mitigate symptoms and improve overall outcomes.
- Onset
- Hyperimmunoglobulin D with periodic fever syndrome (HIDS) typically has an onset in infancy or early childhood, often within the first year of life.
- Prevalence
- The prevalence of Hyperimmunoglobulin D with Periodic Fever Syndrome (HIDS) is not precisely known, but it is considered a very rare disease. Estimates suggest it affects fewer than 1 in 1,000,000 people worldwide.
- Epidemiology
- Hyperimmunoglobulin D with Periodic Fever Syndrome (HIDS) is a rare autoinflammatory disorder. It is part of the periodic fever syndromes, which are characterized by recurrent episodes of fever and inflammation. The condition is caused by mutations in the MVK gene and typically presents in early childhood. It is more common in individuals of Dutch, French, and Northern European descent but can occur in any ethnic group. The exact prevalence of HIDS is not well documented, but it is considered a rare disorder.
- Intractability
- Hyperimmunoglobulin D with periodic fever syndrome (HIDS) is a hereditary autoinflammatory disorder. While it is not considered entirely intractable, it is chronic and currently has no cure. Symptoms can often be managed through medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids, and biologics like interleukin-1 inhibitors. Management focuses on reducing the frequency and severity of fever episodes and inflammation.
- Disease Severity
- Hyperimmunoglobulin D with periodic fever syndrome (HIDS) is generally considered a rare, autoinflammatory disorder with variable severity. Symptoms include recurrent fevers, abdominal pain, joint pain, and skin rashes. The severity can range from mild to moderate, with some individuals experiencing severe episodes that can significantly impact quality of life. However, life expectancy is typically not affected.
- Pathophysiology
- Hyperimmunoglobulin D with periodic fever (HIDS) is an autoinflammatory disease. It is characterized by recurrent episodes of fever and inflammation, often accompanied by symptoms like abdominal pain, joint pain, rash, and lymphadenopathy. The pathophysiology of HIDS involves mutations in the MVK gene, which encodes the enzyme mevalonate kinase. These mutations lead to reduced activity of the enzyme, disrupting isoprenoid biosynthesis. This disruption results in elevated concentrations of mevalonic acid and contributes to the dysregulation of the inflammatory pathways, including increased production of pro-inflammatory cytokines like interleukin-1 beta (IL-1β). This inflammatory cascade causes the periodic fevers and associated symptoms observed in HIDS.
- Carrier Status
- Hyperimmunoglobulin D with periodic fever syndrome (HIDS), also known as Mevalonate Kinase Deficiency (MKD), is an autosomal recessive disorder. Therefore, individuals must inherit two defective copies of the MVK gene (one from each parent) to manifest the disease. Carriers, who possess only one defective copy, typically do not show symptoms of HIDS but can pass the defective gene to their offspring. "Nan" is not applicable in this context.
- Mechanism
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Hyperimmunoglobulin D with periodic fever syndrome (HIDS) is an autoinflammatory disorder characterized by recurrent episodes of fever and elevated levels of immunoglobulin D (IgD).
**Mechanism:**
HIDS is primarily caused by mutations in the MVK gene, which encodes the enzyme mevalonate kinase. This enzyme plays a crucial role in the mevalonate pathway, essential for the biosynthesis of cholesterol and other isoprenoids.
**Molecular Mechanisms:**
1. **Loss of Enzyme Activity:** Mutations in the MVK gene lead to reduced activity or a complete deficiency of mevalonate kinase.
2. **Accumulation of Mevalonate Precursors:** The reduced enzyme activity results in the accumulation of upstream metabolites in the mevalonate pathway.
3. **Inflammatory Response:** The buildup of these precursors triggers an inflammatory response, possibly through the activation of innate immune pathways, leading to the characteristic episodes of fever and inflammation.
4. **Elevated Immunoglobulin D:** The exact reason for elevated IgD levels in HIDS is not fully understood, but it is believed to be a secondary effect of the chronic inflammation and immune dysregulation resulting from the enzyme deficiency.
Understanding these mechanisms helps in diagnosing and managing the condition, which may include anti-inflammatory treatments and other supportive therapies. - Treatment
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For Hyperimmunoglobulin D with Periodic Fever Syndrome (HIDS), particularly treatment aspects, the following options may be considered:
- **Nonsteroidal Anti-Inflammatory Drugs (NSAIDs)**: To reduce fever and inflammation.
- **Corticosteroids**: Short courses can be used to manage severe inflammatory episodes.
- **Biologic agents**: Such as interleukin-1 inhibitors (e.g., anakinra, canakinumab) to reduce inflammatory responses.
- **Colchicine**: Sometimes used to prevent or reduce the frequency of attacks, though its effectiveness can vary.
Management typically involves a combination of these treatments tailored to the patient's specific symptoms and response to therapy. Regular monitoring and adjustment by a healthcare professional are essential. - Compassionate Use Treatment
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Hyperimmunoglobulin D with Periodic Fever Syndrome (HIDS) is a rare autoinflammatory disorder. For compassionate use treatment and off-label or experimental treatments, several approaches may be considered:
1. **Anakinra**: An interleukin-1 (IL-1) receptor antagonist, used off-label, has shown efficacy in reducing inflammation and fever episodes in HIDS patients.
2. **Canakinumab**: Another IL-1 beta inhibitor, also used off-label, has been effective in managing symptoms in some HIDS patients.
3. **Tocilizumab**: An interleukin-6 (IL-6) receptor antagonist that has shown promise in case studies and might be used off-label.
4. **Colchicine**: Typically used for conditions like gout and Familial Mediterranean Fever, colchicine has been explored for HIDS on an experimental basis.
5. **Anti-TNF Agents**: Drugs such as etanercept, infliximab, and adalimumab, which inhibit tumor necrosis factor (TNF), have been used off-label in some cases with varying results.
6. **HSCT (Hematopoietic Stem Cell Transplantation)**: Although highly experimental, HSCT has been considered in severe, refractory cases.
It is important to note that these treatments should be tailored to individual patient needs and carried out under strict medical supervision. Consulting with a medical professional who specializes in autoinflammatory disorders is crucial for managing HIDS. - Lifestyle Recommendations
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For Hyperimmunoglobulin D with Periodic Fever Syndrome (HIDS):
### Lifestyle Recommendations:
1. **Regular Monitoring:**
- Keep regular medical appointments to monitor symptoms and manage fever episodes.
2. **Diet:**
- A balanced diet to support overall health, particularly during fever episodes.
3. **Hydration:**
- Stay well-hydrated, especially during febrile episodes to prevent dehydration.
4. **Rest:**
- Ensure adequate rest during and after fever episodes to help the body recover.
5. **Stress Management:**
- Implement stress-reduction techniques such as meditation, yoga, or gentle exercise to potentially reduce the frequency of episodes.
6. **Avoid Triggers:**
- Identify and avoid known triggers that can induce fever episodes, such as certain foods, infections, or stress.
7. **Support System:**
- Engage with support groups or counseling to manage emotional and psychological aspects of living with a chronic condition.
8. **Emergency Plan:**
- Develop an emergency plan for severe episodes, including having medications and a plan to seek urgent medical care if necessary.
### Nan:
There is no specific information recommending the use or avoidance of nanotechnology in the treatment or management of Hyperimmunoglobulin D with Periodic Fever Syndrome as of now. - Medication
- Hyperimmunoglobulin D with periodic fever syndrome (HIDS) is a rare inherited auto-inflammatory disorder. There is no cure, but treatments typically focus on managing symptoms and reducing inflammation. Nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids, and biological agents like anakinra or etanercept may be prescribed to control fever and inflammation. Regular monitoring and supportive care are also important.
- Repurposable Drugs
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Hyperimmunoglobulin D with periodic fever syndrome (HIDS) is a rare autoinflammatory disorder characterized by recurrent episodes of fever, abdominal pain, and rash, often accompanied by increased levels of immunoglobulin D (IgD).
For treatment, various immunosuppressive and anti-inflammatory drugs that are repurposed for managing HIDS symptoms include:
1. **Corticosteroids**: These can help reduce inflammation and manage acute flare-ups.
2. **Colchicine**: Often used to prevent fever episodes.
3. **TNF-alpha inhibitors**: Drugs such as etanercept and infliximab may help control inflammation.
4. **IL-1 inhibitors**: Anakinra and canakinumab are effective in reducing inflammation in some patients.
5. **Statins**: Though primarily used for cholesterol management, they have an anti-inflammatory effect that may benefit HIDS patients.
It is important for patients with HIDS to work closely with their healthcare providers to determine the most effective treatment strategy. - Metabolites
- Hyperimmunoglobulin D with periodic fever syndrome (HIDS) is a genetic disorder characterized by recurrent episodes of fever and elevated levels of immunoglobulin D (IgD). Specific metabolites associated with HIDS, particularly in relation to its underlying genetic mutation in the MVK gene, are elevated levels of mevalonic acid. Elevated mevalonic acid levels can be detected in urine especially during febrile episodes. These metabolites are linked to defects in the mevalonate pathway, which is critical for cholesterol and isoprenoid biosynthesis.
- Nutraceuticals
- There is currently no robust evidence to suggest that nutraceuticals are effective in treating Hyperimmunoglobulin D Syndrome (HIDS) or Hyper-IgD Syndrome. Management of HIDS primarily involves medications such as NSAIDs for symptom relief, corticosteroids, and biologics like anakinra or canakinumab to control inflammation. Always consult with a healthcare professional for appropriate treatment options.
- Peptides
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Hyperimmunoglobulin D with Periodic Fever Syndrome (HIDS) is an autoinflammatory disorder characterized by recurrent episodes of fever, rash, abdominal pain, and joint pain. It is caused by mutations in the MVK gene, which affects the mevalonate kinase enzyme.
Peptides: There is currently no specific peptide-based therapy for HIDS. Management typically involves anti-inflammatory and immunosuppressive medications.
Nanotechnology (Nan): There is ongoing research in the use of nanotechnology for drug delivery and diagnostic purposes in various diseases, including autoinflammatory conditions like HIDS. However, as of now, there is no approved nanotechnology-based treatment for HIDS.