Beckwith-Wiedemann Syndrome (BWS) is a rare genetic overgrowth disorder. While often identified in infancy or childhood due to its distinct features, its implications and management extend well into adulthood. Understanding the long-term effects and necessary care for adults with BWS is important for maintaining health and quality of life.
What is Beckwith-Wiedemann Syndrome?
Beckwith-Wiedemann Syndrome (BWS) is an overgrowth syndrome impacting multiple body systems. It is caused by abnormalities affecting gene regulation on chromosome 11, specifically in the 11p15.5 region. These genetic changes disrupt normal growth control, leading to characteristic features.
The clinical presentation of BWS varies widely, reflecting its classification as a spectrum disorder. While many cases arise sporadically (without a family history), about 5-10% are inherited. This genetic basis influences the specific characteristics and health considerations throughout life.
Adult Manifestations of Beckwith-Wiedemann Syndrome
The physical and health characteristics of BWS can evolve into adulthood. While overgrowth often slows around age eight, some features may persist or lead to new concerns. Hemihyperplasia, the asymmetric overgrowth of a body part, can remain noticeable, potentially leading to painful scoliosis in some individuals.
Enlarged organs (visceromegaly) and a large tongue (macroglossia) are common features with adult implications. Macroglossia can lead to ongoing difficulties with speech, swallowing, and dental alignment even after childhood surgery. Kidney issues, such as nephrocalcinosis, nephrolithiasis, or renal cysts, can also develop throughout life.
While the risk of embryonal tumors like Wilms tumor (kidney cancer) and hepatoblastoma (liver cancer) is highest in early childhood, typically before age seven, some tumor risks extend into adulthood. For example, adrenal tumors have been observed in adults, with a reported cumulative tumor rate of up to 20% into early adulthood. Other rare tumors, such as acute lymphoblastic leukemia and testicular Sertoli cell tumors, have also been noted.
Ongoing Medical Care and Surveillance
Ongoing medical care for adults with BWS focuses on managing persistent features and monitoring for potential complications. Regular medical monitoring is important, and individuals may benefit from a multidisciplinary approach involving various specialists, even as specific guidelines for adult BWS management are still developing.
Endocrinologists can manage metabolic issues, such as lingering blood sugar imbalances, though severe hypoglycemia is more common in infancy. Oncologists provide continued tumor surveillance, especially for individuals with molecular subtypes linked to higher long-term risks. While overall tumor risk decreases significantly after childhood, vigilance, potentially through imaging like ultrasounds or MRIs, may be recommended based on individual genetic profiles and clinical history.
Orthopedic specialists may be involved if hemihyperplasia leads to limb length discrepancies or scoliosis, with interventions ranging from shoe inserts to surgery. Regular dental evaluations are also beneficial due to macroglossia’s potential long-term effects on oral health. Surveillance protocols should be tailored to each person’s specific presentation and genetic findings.
Genetic Considerations for Adults with BWS
BWS results from various genetic and epigenetic changes, including abnormal methylation patterns, paternal uniparental disomy (UPD), and mutations in genes like CDKN1C. The specific genetic cause influences the likelihood of passing the condition to offspring.
For adults with BWS considering family planning, genetic counseling is highly recommended. While approximately 80% of BWS cases are sporadic and have a low chance of recurrence in subsequent children, certain genetic mechanisms can lead to a higher recurrence risk, potentially up to 50%. Genetic counselors can explain these complex inheritance patterns, help interpret genetic test results, and provide accurate risk assessments for future generations. This guidance allows adults with BWS to make informed decisions about reproductive options and understand the implications for their children.