Hyper-IgD Syndrome
Hyper-IgD Syndrome Causes
The syndrome is said to be caused by gene mutations of the coding mevalonate kinase, which is an essential enzyme for the synthesis of cholesterol. The method by which the abnormality generates the syndrome is unknown.
Hyper-IgD Syndrome Definition
Hyper-IgD syndrome is an uncommon inherited disorder wherein an individual has high immunoglobulin D that causes recurring attacks of fever and chills that onsets during the first year of life. The attacks typically last four to six days, which may be accompanied by other symptoms like abdominal pain, skin rash, and joint pain. The frequency and severity of the attacks vary significantly from one case to another. These episodes can be triggered through physiologic stress, for instance minor trauma or vaccination.
Hyper-IgD Syndrome Diagnosis
Diagnosing the syndrome is through examination, history, and level of serum IgD. Other tests can be done to determine nonspecific abnormalities, and confirm diagnosis.
Hyper-IgD Syndrome Symptoms and Signs
The syndrome has several symptoms including chills, fever, diarrhea, vomiting, headache, abdominal pain, red spots on skin, lymph gland swelling in neck, and high IgD level.
Hyper-IgD Syndrome Treatment
There are no specific or standard treatments for preventing the attacks. Affected individuals can expect recurrent fever bouts all through their life; however attacks have the tendency to lessen in frequency after an individual's adolescence.