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.

Currently, management focuses on supportive care and symptom management as there are no approved treatments specifically for complement factor H deficiency. Treatment plans are typically personalized and involve a multidisciplinary team to monitor and manage any clinical issues that arise. Patients are encouraged to discuss treatment options with their healthcare team to determine the most appropriate approach, and genetic counseling is recommended to guide families through management and family planning decisions.

The long-term outlook for individuals with complement factor H deficiency is highly variable and depends on the severity of symptoms, age at diagnosis, and access to specialized care. With current standards of care, many individuals are able to manage symptoms effectively, and modern advances continue to improve overall outcomes. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with genetic counselors and clinical specialists to understand what to expect and to tailor ongoing care and support.