complement factor H deficiency

Complement factor H deficiency is an inherited condition affecting the regulation of the immune system’s complement pathway. It is caused by pathogenic variants in the CFH gene, a key regulator in this system. The condition demonstrates multiple inheritance patterns, as it can be passed on in both autosomal dominant and autosomal recessive manners. Precise prevalence figures are not well established, and the clinical presentation can vary widely among affected individuals.

The clinical features of complement factor H deficiency have not been fully delineated in the available data, and individuals may experience a range of symptoms related to dysregulation of the complement system. Some may encounter inflammatory episodes or other immune-related challenges, while others may have a milder course. Not all individuals experience all features, and severity varies considerably. Because of this variable expressivity, ongoing evaluation by a healthcare team is important to monitor any emerging symptoms.

Complement factor H deficiency results from pathogenic variants in the CFH gene, which encodes a protein responsible for regulating the complement cascade. The condition has been reported to follow both autosomal dominant and autosomal recessive inheritance patterns, meaning that in some families a single altered copy may be associated with disease while in others, two altered copies may be necessary. This variability in inheritance contributes to the diverse clinical manifestations observed. Genetic counseling is recommended to help families understand the potential implications and risks for relatives. Associated genes include CFH.