Hyperimmunoglobulin D syndrome

Hyperimmunoglobulin D syndrome (HIDS) is a rare autoinflammatory disease characterized by recurrent episodes of fever and inflammation with no known cause. It is also known as mevalonate kinase deficiency (MKD), named after the enzyme that is dysfunctional in this condition.

Symptoms

The primary symptom of HIDS is recurrent fever that begins during infancy or early childhood. These fevers typically last for three to seven days and return every four to six weeks. Other symptoms can include abdominal pain, diarrhea, vomiting, headache, joint pain, lymphadenopathy, and skin rash.

Causes

HIDS is caused by mutations in the MVK gene, which provides instructions for making an enzyme called mevalonate kinase. This enzyme is involved in the production of several important substances in the body, including cholesterol, certain proteins, and other lipids. Mutations in the MVK gene reduce the activity of mevalonate kinase, leading to a buildup of mevalonic acid and related compounds in the body, which triggers an inflammatory response.

Diagnosis

Diagnosis of HIDS is based on clinical symptoms and confirmed by genetic testing for mutations in the MVK gene. Additional tests may include measuring the levels of immunoglobulin D (IgD) and immunoglobulin A (IgA) in the blood, although these are not always elevated in people with HIDS.

Treatment

There is currently no cure for HIDS, and treatment is focused on managing symptoms. This may include nonsteroidal anti-inflammatory drugs (NSAIDs) to reduce fever and inflammation, corticosteroids to suppress the immune system, and biologic therapy with drugs such as anakinra or canakinumab that block the inflammatory response.

Prognosis

The prognosis for individuals with HIDS varies. Some people experience a decrease in the frequency and severity of fever episodes as they get older, while others continue to have frequent episodes throughout their lives. The disease does not typically affect life expectancy.

See also

• Autoinflammatory diseases
• Periodic fever syndrome
• Familial Mediterranean fever
• Tumor necrosis factor receptor associated periodic syndrome

NIH genetic and rare disease info

• NIH info on Hyperimmunoglobulin D syndrome

Hyperimmunoglobulin D syndrome is a rare disease.

Hyperimmunoglobulin D syndrome Resources
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