hyperimmunoglobulinemia D periodic fever syndrome

Hyperimmunoglobulinemia D Periodic Fever Syndrome (HIDS)

HIDS, also known as Mevalonate Kinase Deficiency (MKD), is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction. The condition is caused by mutations in the mevalonate kinase gene, leading to impaired production of mevalonate, a crucial intermediate in the cholesterol synthesis pathway.

Symptoms

The main symptom of HIDS is recurrent episodes of high fever, which typically begin during infancy or early childhood. Each episode can last for 3-7 days and recur every 2-12 weeks. The fevers often come on suddenly with shaking chills, accompanied by other symptoms such as:

• Painful mouth ulcers
• Lymphadenopathy (swollen lymph nodes)
• Skin rash
• High levels of IgD antibodies in the blood

Causes and Diagnosis

HIDS is an autosomal recessive disorder, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition. The diagnosis is typically made based on clinical presentation, laboratory tests, and genetic analysis.

Treatment and Management

There is no cure for HIDS, but treatment focuses on managing symptoms during episodes of fever and preventing complications. This may include:

• High-dose corticosteroids
• Anti-inflammatory medications
• Antibiotics to prevent secondary infections
• Pain management

Early recognition and treatment can help reduce the severity and frequency of episodes.

References

• [1] A rare autoinflammatory disease, and form of mevalonate kinase deficiency (MKD), characterized by periodic attacks of fever and a systemic inflammatory reaction ...
• [3] Recurrent episodes of fever are the main symptom of MKD. They may last for 3 to 7 days and recur every 2–12 weeks.
• [5] Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory ...
• [9] Hyper IgD syndrome (HIDS) is characterized by recurrent episodes of fever, painful mouth ulcers, lymphadenopathy, skin rash, and high IgD levels.

Recurring Episodes of Fever and Inflammation

Hyperimmunoglobulinemia D periodic fever syndrome (HIDS), also known as Hyper-IgD syndrome or HIDS, is a rare inherited autoinflammatory syndrome characterized by recurring episodes of fever and inflammation. The symptoms typically begin in infancy and can last for several days to weeks.

Common Symptoms:

• Episodic high fevers: Recurring episodes of high fever are the main symptom of HIDS.
• Skin rashes: Many people with HIDS experience skin rashes during episodes of fever.
• Swollen neck lymph nodes (cervical lymphadenopathy): Enlarged lymph nodes in the neck are a common symptom.
• Abdominal pain: Pain in the abdomen is often reported by individuals with HIDS.
• Arthritis and/or vomiting: Some people may experience joint pain or vomiting during episodes of fever.

Other Possible Symptoms:

• Joint pain
• Headaches
• Diarrhea

Important Note: Growth and development are usually not affected, and disease complications are rarely seen in patients with HIDS. However, individuals with the more severe form of mevalonate kinase deficiency (MVA) may experience signs and symptoms at all times, not just during episodes of fever.

References:

• [1] - Hyperimmunoglobulinemia D syndrome is a disease that triggers episodes of inflammation in your body.
• [2] - During episodes of fever, people with HIDS typically have enlargement of the lymph nodes (lymphadenopathy), abdominal pain, joint pain, diarrhea, skin rashes, and ...
• [7] - Hyperimmunoglobulin D syndrome (HIDS) causes episodic high fevers with skin rashes, swollen neck lymph nodes, abdominal pain, arthritis and/or vomiting and ...
• [8] - ... periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).
• [9] - Recurrent episodes of fever are the main symptom of MKD. They may last for 3 to 7 days and recur every 2–12 weeks.
• [11] - Hyper IgD syndrome is the less severe form of a metabolic disorder known as mevalonate kinase deficiency. It is considered an auto-inflammatory disease, with recurrent episodic or chronic unexplained inflammation, characterized by periodic episodes of fever, and other symptoms such as joint pain, swollen lymph nodes, skin rash, headaches, and abdominal pain.
• [13] - Severity of symptoms, and signs of chronic inflammation, can vary greatly between each case of MKD, but these are generally lifelong diseases for most patients.

Diagnostic Tests for Hyperimmunoglobulinemia D Periodic Fever Syndrome

Hyperimmunoglobulinemia D periodic fever syndrome (HIDS) is a rare genetic disorder characterized by recurring episodes of fever and inflammation. Diagnosing HIDS can be challenging, but several diagnostic tests can help confirm the condition.

• Serum IgD level: Elevated levels of immunoglobulin D (IgD) in the blood are a hallmark of HIDS. A serum IgD test can show high levels of IgD, which is often present in people with this syndrome [1][2].
• Genetic testing: DNA analysis of the mevalonate kinase gene can confirm the diagnosis of HIDS. This genetic test can identify mutations in the MK gene that are associated with the condition [3][4].
• Blood tests: Blood tests, such as a complete blood count (CBC) and C-reactive protein (CRP), can show signs of inflammation during an episode of fever [5][6].
• Urine test: A urine test may also be performed to rule out other conditions that can cause similar symptoms.

It's essential to note that diagnosis of HIDS should be made by a physician with expertise in this type of disease. A combination of clinical evaluation, laboratory tests, and genetic analysis is often necessary to confirm the diagnosis [7][8].

References: [1] - Context 5 [2] - Context 5 [3] - Context 6 [4] - Context 6 [5] - Context 8 [6] - Context 8 [7] - Context 4 [8] - Context 9

Treatment Options for Hyperimmunoglobulinemia D Periodic Fever Syndrome

Hyperimmunoglobulinemia D periodic fever syndrome (HIDS) is a rare genetic disorder characterized by recurrent episodes of fever and inflammation. While there is no established treatment, various medications have been used to manage symptoms.

• NSAIDs: Nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen or naproxen, may help relieve symptoms during attacks [2].
• Corticosteroids: High-dose prednisone has been effective in some patients, especially when given at the beginning of an attack [2].
• TNF-alpha inhibitors: Etanercept has been successfully used to treat four children with HIDS [1].
• Interleukin inhibitors: Canakinumab (Ilaris) has shown promise in treating HIDS symptoms [4][5].
• Anakinra: This medication can be used to treat symptoms, although its effectiveness may vary [7].

Emerging Treatment Options

Recent studies have explored the use of other medications to manage HIDS symptoms. These include:

• Simvastatin: A study in 2020 found that simvastatin treatment reduced inflammatory attacks in patients with HIDS [8].
• Tocilizumab: Case reports from China have demonstrated the effectiveness of tocilizumab in reducing flares of HIDS in children [9].

It is essential to note that each patient's response to these treatments may vary, and more research is needed to establish the most effective treatment strategies for HIDS.

References:

[1] Korppi M. (2011) - Cited by 56

[2] Rigante D. (2006) - Cited by 100

[4] Padeh YC. (Cited by 4)

[5] Sep 9, 2021 - Subdivisions

[7] Symptoms can be treated with nonsteroidal anti-inflammatory drugs, corticosteroids, and anakinra.

[8] Jeyaratnam J. (2020) - Cited by 44

[9] Li C. (2024) - Case Report

Hyperimmunoglobulinemia D periodic fever syndrome (HIDS), also known as mevalonate kinase deficiency (MKD), is a rare autoinflammatory disorder characterized by recurrent episodes of fever, often accompanied by other symptoms such as abdominal pain, joint pain, and skin rashes. When diagnosing HIDS, it's essential to consider its differential diagnoses, which include other periodic fever syndromes.

Other Periodic Fever Syndromes:

• Familial Mediterranean Fever (FMF): This is the most frequently seen periodic fever syndrome in many countries, including Turkey. It's characterized by recurrent episodes of fever, often accompanied by abdominal pain and joint pain.
• Tumor Necrosis Factor Receptor-1 Associated Periodic Syndrome (TRAPS): This is another autoinflammatory disorder that presents with recurring episodes of fever, often accompanied by joint pain and skin rashes.
• Muckle-Wells Syndrome: This rare genetic disorder is characterized by recurrent episodes of fever, often accompanied by joint pain, skin rashes, and sensorineural hearing loss.

Key Differences:

• Serum IgD Levels: HIDS patients typically have elevated serum IgD levels, although normal levels can be seen in some cases (22% in one study). In contrast, FMF patients usually have normal serum IgD levels.
• Mevalonic Acid and Mevalonate Kinase Levels: Elevated mevalonic acid and low mevalonate kinase levels are characteristic of HIDS, whereas TRAPS and Muckle-Wells Syndrome may show different laboratory findings.

Other Differential Diagnoses:

• Autoinflammatory Disorders: Other autoinflammatory disorders, such as periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA), should be considered in the differential diagnosis of HIDS.
• Infectious, Malignant, and Autoimmune Disorders: A wide range of conditions, including infectious diseases, malignancies, and autoimmune disorders, can present with febrile attacks and should be ruled out.

Conclusion:

Differential diagnosis of hyperimmunoglobulinemia D periodic fever syndrome (HIDS) requires a thorough evaluation of the patient's clinical presentation, laboratory findings, and family history. Other periodic fever syndromes, such as FMF, TRAPS, and Muckle-Wells Syndrome, should be considered in the differential diagnosis, along with other autoinflammatory disorders and conditions that can present with febrile attacks.

References:

• Korppi M, Van Gijn ME, Antila K. Hyperimmunoglobulinemia D and periodic fever syndrome in children. Review on therapy with biological drugs and case report. Acta Paediatr. 2011;100(1):21-25.
• [Hyperimmunoglobulinemia D and periodic fever syndrome] Nihon Rinsho Meneki Gakkai Kaishi. 2011;34(5):382-7.

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