What Are the Adult Complications of Williams Syndrome?

As you or your loved one transitions into adulthood, medical needs shift. While early childhood often focuses on developmental milestones and structural heart issues, adulthood requires monitoring for complications related to the body’s connective tissues, metabolism, and emotional well-being ^[1][2]. The most common adult-onset complications include high blood pressure, gastrointestinal problems like chronic constipation and colonic diverticula, early-onset hearing loss, joint stiffness, endocrine issues like diabetes, and increased anxiety ^[3][4][5]. Transitioning from pediatric to adult specialists usually begins in the late teens to early twenties and is a vital part of long-term care ^[6].

Cardiovascular Health and High Blood Pressure

Because Williams syndrome is caused by a missing elastin gene (elastin is the protein that allows tissues to stretch), blood vessels can be stiffer and narrower than normal ^[1].

• Hypertension (High Blood Pressure): This is highly common in adults and requires lifelong monitoring, as it can develop at any age ^[3][7].
• Blood Vessel Narrowing: Narrowing of the aorta or renal arteries (the vessels supplying the kidneys) can worsen over time or cause hypertension ^[8][9]. Regular checkups help manage these risks before they become severe.

Gastrointestinal and Digestive Changes

While chronic stomach and bowel issues are common in adulthood, they are highly manageable with the right proactive care ^[4].

• Chronic Constipation and Colonic Diverticula: Chronic constipation is a frequent, lifelong issue. Over time, it contributes to a higher risk of developing small, bulging pouches in the digestive tract lining (diverticulosis) ^[4]. Aggressively managing constipation is key to preventing these pouches from becoming inflamed or infected (diverticulitis).
• Ongoing Digestive Issues: Chronic abdominal pain and acid reflux (GERD) are also commonly reported ^[4][2].

Endocrine and Metabolic Issues

The endocrine system, which produces hormones, requires annual surveillance as metabolic imbalances and weight changes become more common with age ^[2].

• Diabetes and Weight Management: Adults have a significantly higher risk for impaired glucose tolerance and type 2 diabetes, often compounded by weight gain ^[4][10].
• Thyroid Dysfunction: The thyroid gland may be underactive (hypothyroidism), causing fatigue and weight changes. Annual screening of thyroid hormone levels is recommended ^[11][2].
• Calcium Levels: High blood calcium (hypercalcemia) is most famous as a childhood complication, but it can persist or recur in adulthood. It requires ongoing monitoring to protect kidney health ^[12][13].

Musculoskeletal and Sensory Changes

The lack of elastin affects joints and hearing over time, but supportive therapies can make a big difference.

• Joint Stiffness and Bone Health: Progressive joint stiffness is common, sometimes leading to a reduced range of motion or specific issues like lockjaw (temporomandibular joint ankylosis) ^[14]. Physical therapy can help maintain mobility. Additionally, adults are at an increased risk for osteoporosis (weak and brittle bones), requiring bone density monitoring ^[15].
• Hearing Loss: While children with Williams syndrome often have sensitive hearing (hyperacusis), adults frequently develop early-onset sensorineural hearing loss (nerve-related hearing loss) ^[16][17]. Regular audiology exams can determine if hearing aids are needed to maintain quality of life.

Mental Health and Behavioral Changes

Emotional well-being is just as important as physical health. Anxiety often becomes a primary functional limitation in adulthood ^[5].

• Anxiety and Phobias: Up to a quarter of adults with Williams syndrome experience significant mental health challenges, with generalized anxiety and specific phobias being the most common ^[5]. These can be intensified by major life transitions, such as leaving school or moving.
• Support: Ongoing psychological support and counseling are highly recommended to help manage anxiety, navigate changes, and improve daily functioning.

Building an Adult Care Team

As you or your loved one approaches adulthood (typically starting around age 18 to 21), pediatric specialists should gradually be replaced by adult providers who understand the unique nuances of Williams syndrome ^[6]. Key specialists to add include:

• Adult Congenital Cardiologist: To monitor blood pressure and vessel narrowing ^[9].
• Endocrinologist: To track thyroid function, calcium levels, and blood sugar ^[2].
• Gastroenterologist: To aggressively manage constipation and screen for diverticulitis ^[4].
• Psychiatrist or Psychologist: To provide strategies and treatment for managing anxiety and life transitions ^[5].