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Which are the symptoms of Hyper-IgD Syndrome / Hyperimmunoglobulinemia D With Recurrent Fever (HIDS)?

See the worst symptoms of affected by Hyper-IgD Syndrome / Hyperimmunoglobulinemia D With Recurrent Fever (HIDS) here

Hyper-IgD Syndrome / Hyperimmunoglobulinemia D With Recurrent Fever (HIDS) symptoms

Hyper-IgD Syndrome, also known as Hyperimmunoglobulinemia D with Recurrent Fever (HIDS), is a rare genetic disorder that affects the immune system. It is characterized by recurrent episodes of fever accompanied by various symptoms. The condition typically begins in early childhood, with the first episode occurring before the age of 5.



Fever: The hallmark symptom of HIDS is recurrent fever, which usually lasts for 4 to 7 days. The fever episodes can occur at irregular intervals, ranging from weekly to every few months. The fever is often accompanied by other symptoms.



Abdominal Pain: Many individuals with HIDS experience abdominal pain during fever episodes. The pain can be severe and may be accompanied by diarrhea, vomiting, or nausea. These gastrointestinal symptoms can mimic other conditions such as appendicitis or gastroenteritis.



Joint Pain: Joint pain, also known as arthralgia, is a common symptom of HIDS. The pain usually affects large joints such as the knees, hips, or ankles. The joints may become swollen, tender, and warm to the touch. The pain can be debilitating and may limit mobility during fever episodes.



Rash: Some individuals with HIDS develop a rash during fever episodes. The rash can be maculopapular (small, flat, red spots) or urticarial (raised, itchy, red welts). The rash typically appears on the trunk, limbs, or face and may come and go with the fever episodes.



Lymphadenopathy: Enlarged lymph nodes, known as lymphadenopathy, can occur during fever episodes in individuals with HIDS. The lymph nodes may be tender and palpable in the neck, armpits, or groin area.



Headache: Headaches are a common symptom during fever episodes in HIDS. The headaches can range from mild to severe and may be accompanied by other symptoms such as fatigue or sensitivity to light and sound.



Fatigue: Many individuals with HIDS experience fatigue and general malaise during fever episodes. The fatigue can be debilitating and may persist even after the fever subsides.



Other Symptoms: Additional symptoms that may occur during fever episodes include sore throat, chest pain, eye redness, and swollen glands. These symptoms can vary in severity and may not be present in every episode.



HIDS is caused by mutations in the mevalonate kinase (MVK) gene, which leads to the overproduction of a protein called mevalonate kinase. This excessive production of mevalonate kinase disrupts the normal regulation of the immune system, resulting in the recurrent fever episodes and associated symptoms.



Diagnosis of HIDS is based on clinical symptoms, genetic testing to identify MVK gene mutations, and exclusion of other possible causes of recurrent fever. Treatment aims to manage symptoms and prevent complications. Nonsteroidal anti-inflammatory drugs (NSAIDs) can help alleviate fever, joint pain, and abdominal pain. In some cases, medications that suppress the immune system, such as corticosteroids or biologic agents, may be prescribed to reduce the frequency and severity of fever episodes.



In conclusion, Hyper-IgD Syndrome or Hyperimmunoglobulinemia D with Recurrent Fever (HIDS) is a rare genetic disorder characterized by recurrent fever episodes lasting several days. The fever is often accompanied by symptoms such as abdominal pain, joint pain, rash, lymphadenopathy, headache, and fatigue. Prompt diagnosis and appropriate management can help improve the quality of life for individuals with HIDS.


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