Complement deficiency syndromes
| Complement deficiency | |
|---|---|
 |
|
| Complement pathway (normal) | |
| Classification and external resources | |
| Specialty | hematology |
| ICD-10 | D84.1 |
| ICD-9-CM | 279.8 |
| OMIM | 217000 120820, 120900, 610102 |
| DiseasesDB | , 34381 |
| eMedicine | med/419 ped/447 |
Complement deficiency is an immunodeficiency of absent or suboptimal functioning of one of the complement system proteins. Because there are redundancies in the immune system, many complement disorders are never diagnosed, some studies estimated that less than 10% are identified.Hypocomplementemia may be used more generally to refer to decreased complement levels while secondary complement disorder is to low complement levels that are not directly due to a genetic cause but secondary to another medical condition.
The following symptoms (signs) are consistent with complement deficiency in general:
The cause of complement deficiency is genetics (though cases of an acquired nature do exist post infection). The majority of complement deficiencies are autosomal recessive, while properdin deficiency could be X-linked inheritance, and finally MBL deficiency can be both
Vaccinations for encapsulated organisms is crucial for preventing infections in complement deficiencies. Among the possible complications are the following:
The mechanism of complement deficiency consists of:
Among the diagnostic tests that can be done in determining if an individual has complement deficiencies is:
In terms of management for complement deficiency, immunosuppressive therapy should be used depending on the disease presented. A C1-INH concentrate can be used for angio-oedema (C1-INH deficiency).
Pneumococcus and haemophilus infections prevention can be taken via immunization for those with complement deficiency.Epsilon-aminocaproic acid could be used to treat hereditary C1-INH deficiency, though the possible side effect of intravascular thrombosis should be weighed.
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