sitosterolemia 2

Sitosterolemia 2 is a condition affecting lipid metabolism, primarily characterized by markedly elevated cholesterol levels leading to features such as tendon xanthomatosis. The condition is caused by pathogenic variants in the ABCG5 gene, which plays a critical role in the transport of plant sterols and cholesterol in the body. It generally presents in childhood, although the severity and age of onset can vary between individuals. Precise prevalence estimates are not well established, and available data suggest that the condition is quite uncommon.

The core clinical features of sitosterolemia 2 include hypercholesterolemia and tendon xanthomatosis, both of which are consistently observed in affected individuals. These findings often prompt further evaluation when unusually high cholesterol levels are encountered at a young age or when tendon deposits become evident. Not all individuals experience additional symptoms, and the overall presentation can vary widely between affected persons. That severity and clinical manifestations differ considerably from person to person.

Sitosterolemia 2 is caused by pathogenic variants in the ABCG5 gene, which is essential for the proper regulation of plant sterol and cholesterol transport. The condition is inherited in an autosomal recessive pattern, meaning that an affected individual has inherited two altered copies of the gene, one from each parent. Because both parents must contribute a pathogenic variant for the condition to manifest, families with shared ancestry may be at higher risk of both being carriers. Genetic counseling is advised to help families understand the implications and recurrence risks associated with this inheritance pattern.

Currently, management of sitosterolemia 2 focuses on supportive care and symptom management as there are no FDA-approved treatments specifically linked to the condition. Treatment is tailored to the individual and typically involves a multidisciplinary team, with dietary modifications and cholesterol-lowering strategies often playing a central role. Patients are advised to consult their healthcare provider to discuss personalized treatment options and appropriate strategies for managing cholesterol levels. Genetic counseling is also recommended to help families navigate the implications of the condition.

The course of sitosterolemia 2 is variable, with outcomes differing from one individual to another. With current standards of care and ongoing advances in medical management, many individuals maintain a good quality of life into adulthood despite the lifelong nature of the condition. Outcomes described in medical literature continue to evolve as standards of care improve, and factors such as age at diagnosis and access to specialized management can influence the overall trajectory. As individual experiences with sitosterolemia 2 differ significantly, families often find it helpful to connect with genetic counselors and specialists to obtain tailored guidance and support.