Periodic fever syndromes Save

Understanding Periodic Fever Syndromes

Periodic fever syndromes refer to a group of rare genetic disorders characterized by recurrent episodes of high fever and inflammation. These syndromes are typically seen in childhood, but can also occur in adulthood. While there are several types of periodic fever syndromes, the most common ones include Familial Mediterranean Fever (FMF), Hyper IgD Syndrome (HIDS), and Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS).

1. Familial Mediterranean Fever (FMF)

FMF is an autosomal recessive disorder primarily affecting individuals of Mediterranean descent. It typically presents with recurrent episodes of fever, accompanied by abdominal pain, chest pain, and joint inflammation. FMF episodes usually last between 1 to 3 days and can occur every few weeks. Attacks may be triggered by stress, infections, or certain foods.

2. Hyper IgD Syndrome (HIDS)

HIDS is an autosomal recessive disorder characterized by recurrent fevers that last for approximately 3 to 7 days. These fevers may be accompanied by other symptoms such as headache, joint pain, and abdominal pain. HIDS is caused by mutations in the mevalonate kinase gene and can be triggered by various factors, including vaccinations and infections.

3. Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS)

TRAPS is an autosomal dominant disorder caused by mutations in the tumor necrosis factor receptor superfamily 1A (TNFRSF1A) gene. It typically presents with recurrent episodes of prolonged fever lasting for approximately 1 to 3 weeks. Additional symptoms may include muscle pain, skin rashes, and abdominal pain.

Periodic fever syndromes can be challenging to diagnose as the symptoms overlap with various other conditions. A thorough medical history, physical examination, and genetic testing are essential for accurate diagnosis.

1. Genetic testing
2. Thorough medical history
3. Physical examination

Management of periodic fever syndromes focuses on relieving symptoms and preventing complications. Treatment may involve medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) to reduce inflammation and control fever. Additionally, lifestyle modifications, including stress reduction techniques and avoiding triggers, may also be recommended.

It is important to consult with a healthcare professional to receive proper diagnosis and guidance regarding periodic fever syndromes. Although rare, early recognition and appropriate management can significantly improve the quality of life for individuals with these syndromes.