hyperimmunoglobulinemia D with periodic fever

Hyperimmunoglobulinemia D with periodic fever (HIDS) is an autoinflammatory condition characterized by recurrent episodes of fever and systemic inflammation. It is associated with pathogenic variants in the MVK gene, which affects the function of the mevalonate kinase enzyme. Affected individuals experience episodes that typically include high fever, skin rash, and gastrointestinal symptoms such as abdominal pain, vomiting, and diarrhea. Precise prevalence data are not available, and the condition is considered rare.

The clinical presentation of HIDS includes a range of symptoms that affect multiple organ systems. Characteristic features, always present in affected individuals, include hepatosplenomegaly, skin rash, and elevated urine mevalonic acid levels. Other common manifestations involve recurrent fever, cervical lymphadenopathy, abdominal pain, and gastrointestinal disturbances such as vomiting and diarrhea, as well as musculoskeletal discomfort including arthralgia and myalgia. Not all individuals experience every symptom, and severity varies considerably.

HIDS is caused by pathogenic variants in the MVK gene and follows an autosomal recessive pattern of inheritance. This means that an affected individual inherits two copies of the mutated gene, one from each parent, who may be asymptomatic carriers. The mutation leads to a deficiency in mevalonate kinase, an enzyme crucial for proper inflammatory regulation. Families are encouraged to seek genetic counseling to understand the risks and implications for family planning.

Currently, management of HIDS focuses on supportive care and symptom management as there are no treatments specifically approved for this condition. Treatment is tailored to the individual and typically involves a multidisciplinary team, with regular surveillance to monitor for potential complications. This includes managing acute symptoms during fever episodes and coordinating long-term care with specialists experienced in autoinflammatory disorders. Patients should discuss treatment options with their healthcare team and consider genetic counseling as part of comprehensive care.

The long-term outlook for individuals with hyperimmunoglobulinemia D with periodic fever is highly variable, as the frequency and severity of inflammatory episodes differ from person to person. With current standards of care, many individuals are able to manage symptoms and maintain a good quality of life despite recurrent episodes. Outcomes described in medical literature continue to evolve as standards of care improve, and families often find it helpful to connect with specialists familiar with this condition for ongoing support and guidance. Genetic counseling is also recommended to help families understand inheritance patterns and plan for the future.