Hereditary Periodic Fever Syndromes (HPFS) refers to a group of rare genetic disorders characterized by recurrent episodes of fever and other associated symptoms. These syndromes are typically inherited in an autosomal dominant manner, meaning that only one copy of the mutated gene is necessary to cause the condition.
The fevers in HPFS are recurrent and can last from a few days to several weeks. They tend to occur periodically, with symptom-free intervals between episodes. Along with fever, affected individuals may also experience inflammation in various parts of the body, including the joints, skin, and internal organs.
There are several subtypes of HPFS, each with its unique set of symptoms and specific genes associated with the condition. Some of the most common types include Familial Mediterranean Fever (FMF), Hyperimmunoglobulinemia D Syndrome (HIDS), and TNF Receptor Associated Periodic Syndrome (TRAPS).
Diagnosis of HPFS involves a thorough evaluation of the patient's medical history, detailed physical examination, and genetic testing to identify the specific gene mutation responsible for the syndrome. Treatment options for HPFS include management of symptoms and prevention of complications, which may involve the use of nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids, or other medications depending on the subtype.
It is essential for individuals with HPFS to have regular follow-ups with healthcare professionals, as early diagnosis and appropriate management can help alleviate symptoms, prevent long-term complications, and improve quality of life.
