About Hyperimmunoglobulinemia D with periodic fever

What is Hyperimmunoglobulinemi D with periodic fever?

Hyperimmunoglobulinemia D with periodic fever (HIDS) is a rare, inherited autoinflammatory disorder characterized by recurrent episodes of fever, abdominal pain, and skin rash. It is caused by mutations in the mevalonate kinase (MVK) gene, which is responsible for the production of an enzyme involved in the synthesis of cholesterol. During episodes of fever, patients may also experience joint pain, swollen lymph nodes, and eye inflammation. Treatment typically involves the use of non-steroidal anti-inflammatory drugs (NSAIDs) and corticosteroids.

What are the symptoms of Hyperimmunoglobulinemi D with periodic fever?

The most common symptoms of Hyperimmunoglobulinemia D with periodic Fever (HIDS) include recurrent episodes of fever, abdominal pain, joint pain, skin rash, and swollen lymph nodes. Other symptoms may include fatigue, headache, sore throat, and weight loss. In some cases, people with HIDS may also experience anemia, eye inflammation, and liver and kidney problems.

What are the causes of Hyperimmunoglobulinemi D with periodic fever?

Hyperimmunoglobulinemia D with periodic fever (HIDS) is an autosomal recessive disorder caused by mutations in the mevalonate kinase (MVK) gene. This gene is responsible for the production of mevalonate, an important precursor for cholesterol and other molecules. Mutations in the MVK gene lead to a deficiency in mevalonate, which in turn leads to an overproduction of certain immune system proteins called immunoglobulins. This overproduction of immunoglobulins causes inflammation and periodic fever episodes.

What are the risk factors for Hyperimmunoglobulinemi D with periodic fever?

1. Genetic predisposition: Hyperimmunoglobulinemia D with periodic fever is an autosomal recessive disorder, meaning that it is inherited from both parents.

2. Age: Hyperimmunoglobulinemia D with periodic fever is most commonly seen in children and young adults.

3. Gender: Hyperimmunoglobulinemia D with periodic fever is more common in males than females.

4. Ethnicity: Hyperimmunoglobulinemia D with periodic fever is more common in people of Mediterranean descent.

5. Exposure to certain infections: Exposure to certain infections, such as Epstein-Barr virus, may increase the risk of developing Hyperimmunoglobulinemia D with periodic fever.

Is there a cure/medications for Hyperimmunoglobulinemi D with periodic fever?

Yes, there is a cure for Hyperimmunoglobulinemia D with periodic fever. Treatment typically involves medications such as corticosteroids, immunosuppressants, and biologic agents. In some cases, intravenous immunoglobulin (IVIG) may be used to reduce inflammation and improve symptoms. Additionally, lifestyle modifications such as avoiding triggers, getting adequate rest, and eating a healthy diet may help reduce symptoms.