What is the prevalence of Hyper-IgD Syndrome / Hyperimmunoglobulinemia D With Recurrent Fever (HIDS)?

Hyper-IgD Syndrome, also known as Hyperimmunoglobulinemia D With Recurrent Fever (HIDS), is a rare autosomal recessive disorder characterized by recurrent episodes of fever accompanied by various symptoms such as abdominal pain, joint pain, skin rashes, and swollen lymph nodes.

The prevalence of HIDS is estimated to be approximately 1 in 50,000 to 1 in 1,000,000 individuals. It primarily affects individuals of European descent, particularly those of Dutch or French ancestry. The condition usually manifests in early childhood, with symptoms recurring every few weeks to months and lasting for several days.

HIDS is caused by mutations in the mevalonate kinase (MVK) gene, which leads to the overproduction of a protein called mevalonate kinase. This excess protein triggers an inflammatory response, resulting in the characteristic symptoms of the syndrome.

Diagnosis of HIDS is often challenging due to its rarity and the variability of symptoms. Genetic testing can confirm the presence of MVK gene mutations, aiding in the identification of affected individuals.

Although there is no cure for HIDS, treatment focuses on managing symptoms and preventing complications. This may involve the use of nonsteroidal anti-inflammatory drugs (NSAIDs) to alleviate fever and pain, as well as other medications to control inflammation.

In conclusion, Hyper-IgD Syndrome/HIDS is a rare genetic disorder with an estimated prevalence of 1 in 50,000 to 1 in 1,000,000 individuals. It primarily affects individuals of European descent and is characterized by recurrent fever episodes and various accompanying symptoms. Early diagnosis and appropriate management can help improve the quality of life for individuals living with this condition.