Hyperimmunoglobulinemia D with periodic fever

Hyperimmunoglobulinemia D with periodic fever syndrome (HIDS), also known as Mevalonate Kinase Deficiency, is a rare genetic disorder characterized by recurrent episodes of fever, along with additional symptoms such as abdominal pain, arthritis, skin rash, and lymphadenopathy. This condition is caused by mutations in the MVK gene, which encodes the enzyme mevalonate kinase, crucial for cholesterol and isoprenoids synthesis.

Symptoms and Signs

The hallmark of HIDS is the recurrent fever episodes that typically begin in infancy or early childhood. These fevers, lasting from a few days to a week, are often accompanied by other symptoms including:

• Abdominal pain
• Vomiting and diarrhea
• Arthritis or arthralgia
• Skin rash, often described as a maculopapular or urticarial rash
• Lymphadenopathy
• Headache and fatigue

The symptoms can be triggered by various factors, including vaccinations, physical trauma, or infections.

Genetics

HIDS is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. The disorder is caused by mutations in the MVK gene, which leads to reduced activity of the mevalonate kinase enzyme. This enzyme plays a key role in the biosynthesis of cholesterol and isoprenoids, which are vital for various cellular functions.

Diagnosis

Diagnosis of HIDS is based on the clinical presentation and the history of recurrent fever episodes. Laboratory tests may show elevated levels of immunoglobulin D (IgD) and, in some cases, immunoglobulin A (IgA). Genetic testing can confirm the diagnosis by identifying mutations in the MVK gene.

Treatment

There is no cure for HIDS, and treatment focuses on managing symptoms and reducing the frequency of fever episodes. Options may include:

• Nonsteroidal anti-inflammatory drugs (NSAIDs) for pain and inflammation
• Corticosteroids to control severe symptoms
• Biologic agents, such as anakinra, a recombinant human interleukin-1 receptor antagonist, have shown promise in reducing the frequency and severity of fever episodes.

Prognosis

The prognosis for individuals with HIDS varies. While the disorder does not typically affect life expectancy, the recurrent fever episodes and associated symptoms can significantly impact quality of life. With appropriate management, many individuals can lead active lives.

See Also

• Familial Mediterranean Fever
• TNF Receptor Associated Periodic Syndrome (TRAPS)
• Cryopyrin-Associated Periodic Syndromes (CAPS)

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