Personalized Alström Syndrome Surveillance Schedule

A personalized surveillance schedule is the most important non-medication intervention in Alström care. The 2020 international consensus management guidelines specify what to monitor, by which specialty, at what frequency.¹ This tool helps you generate a schedule for your specific situation.

This is a template for an interactive tool. The decision logic below shows what tests and visits are recommended based on age and current complications. The "Generate your schedule" web version on myalstrom.com would walk users through these inputs and output a customized PDF.

Step 1 — Input your situation

Age band:

• ☐ 0–2 years (infant / toddler)
• ☐ 3–5 years (preschool)
• ☐ 6–11 years (school age)
• ☐ 12–17 years (adolescent)
• ☐ 18–29 years (young adult)
• ☐ 30+ years (adult)

Current complications (check all that apply):

• ☐ Cone-rod dystrophy / vision loss
• ☐ Sensorineural hearing loss
• ☐ History of infant cardiomyopathy (recovered or active)
• ☐ Active cardiomyopathy (any age)
• ☐ Type 2 diabetes
• ☐ Insulin resistance / pre-diabetes
• ☐ Hypertriglyceridemia
• ☐ Chronic kidney disease (any stage)
• ☐ Liver involvement / NAFLD
• ☐ Sleep apnea (treated or untreated)
• ☐ Hypogonadism / pubertal arrest
• ☐ Hypothyroidism
• ☐ PCOS
• ☐ Bladder dysfunction
• ☐ Scoliosis
• ☐ Mental health concerns
• ☐ Pregnancy (current or planning)
• ☐ Post-transplant (heart, kidney, or liver)

Special situations:

• ☐ Recently diagnosed (< 6 months ago)
• ☐ Pre-surgery / pre-anesthesia
• ☐ Recent hospitalization
• ☐ Recent medication change

Step 2 — Your surveillance schedule

CORE schedule for everyone with Alström, regardless of age or complications

These visits and tests apply to every person with Alström — annually unless otherwise noted.

ADDITIONAL surveillance based on complications

If history of infant cardiomyopathy (recovered)

Add:

• Annual echocardiogram with detailed assessment of LV function (already in core)
• Cardiac MRI every 2–3 years
• 24-hour Holter monitor every 1–2 years
• BNP or NT-proBNP at each cardiology visit

If active cardiomyopathy

Add to the core:

• Echocardiogram every 3–6 months (more frequent than annual)
• BNP/NT-proBNP every 3–6 months
• Cardiac MRI annually
• Cardiopulmonary exercise testing periodically
• Daily home weight monitoring
• Frequent medication adjustments by cardiology

If type 2 diabetes

Add to the core:

• HbA1c every 3 months
• More frequent fasting glucose, fasting insulin
• Annual diabetic retinopathy screening (where retinal disease allows)
• Annual foot exam
• Annual urine albumin-to-creatinine ratio
• Endocrinology visits every 3–6 months
• Continuous glucose monitor data review

If chronic kidney disease (eGFR < 60)

Add to the core:

• More frequent creatinine and eGFR (every 3–6 months)
• Urine protein quantification
• Bone-mineral panel (calcium, phosphate, PTH, vitamin D)
• Hemoglobin (anemia of CKD)
• Renal ultrasound annually
• Nephrology visits every 3–6 months
• Avoidance of nephrotoxic medications
• Dietary phosphate and potassium considerations as needed

If liver disease / advanced NAFLD

Add to the core:

• More frequent LFTs
• FibroScan annually
• Hepatology visits every 6–12 months
• Hepatocellular carcinoma screening if cirrhosis is present (US/AFP every 6 months)
• Endoscopy if portal hypertension suspected

If sleep apnea

Add to the core:

• Sleep medicine visits every 6–12 months
• CPAP/BiPAP compliance review
• Polysomnogram every 1–3 years or as symptoms suggest
• Pressure adjustment as weight or symptoms change

If hypogonadism / pubertal arrest

Add to the core:

• Endocrinology every 3–6 months during active hormone replacement
• LH, FSH, testosterone or estradiol per protocol
• Bone density (DEXA) every 1–2 years in adults
• Annual review of hormone replacement strategy

If pregnancy (or planning)

Pregnancy intensifies surveillance significantly:

• Cardiology monthly during pregnancy
• High-risk obstetrics monthly
• Endocrinology biweekly
• Echocardiogram monthly
• Comprehensive postpartum cardiac monitoring
• Pre-pregnancy comprehensive workup
• Genetic counseling pre-conception

If post-transplant (heart, kidney, liver)

Coordinate with transplant team for:

• Frequent labs for immunosuppression levels
• Surveillance for rejection
• Infection screening
• Cancer surveillance (immunosuppression risk)
• Transplant-specific imaging

Age-specific additions

Children 0–5

• Developmental milestone monitoring
• Early Intervention services engagement
• Vision/hearing services engagement
• Pre-Braille and pre-cane introduction
• Social work/family support engagement

Children 6–11

• IEP review and update
• Vision services through school (TVI)
• Audiology services through school
• O&M instruction
• Diabetes screening intensification
• Mental health awareness

Adolescents 12–17

• Pubertal hormone monitoring
• Vocational rehabilitation engagement (US)
• Mental health proactive support
• Transition planning to adult care
• Independent self-management training

Young adults 18–29

• Transition to adult specialists
• Vocational rehabilitation full engagement
• Family planning conversations
• Insurance transitions
• Mental health continued support

Adults 30+

• Continued surveillance per all complications
• Bone density assessment
• Adult preventive care alongside Alström care
• Advance care planning conversations

Step 3 — Annual schedule visualization

Your suggested annual calendar (sample for a typical adolescent with diabetes and recovered cardiomyopathy):

JAN: Cardiology (echo, EKG)
FEB: Audiology
MAR: Endocrinology (HbA1c)
APR: —
MAY: Ophthalmology (OCT, ERG)
JUN: Endocrinology (HbA1c)
JUL: Primary care (annual physical, labs)
AUG: Hepatology / Nephrology (alternating years)
SEP: Endocrinology (HbA1c)
OCT: Pulmonology / sleep medicine if CPAP
NOV: Genetics review
DEC: Endocrinology (HbA1c)

Plus quarterly endocrinology for diabetes, and any additional visits triggered by symptoms.

Step 4 — Print and share

Save this generated schedule and:

1. Share with your primary care physician for coordination

2. Print and place in the Alström care binder

3. Set calendar reminders for upcoming visits

4. Share with school nurse if applicable

5. Update annually as the situation evolves

Notes on the schedule

• Your schedule should be customized with your medical team. This tool produces a starting point; your specific care plan reflects clinical judgment about your situation.
• Insurance considerations may affect how often certain studies can be done. Documentation of medical necessity helps.
• Travel / care location affects logistics. Some surveillance can be done locally; some benefits from a center of excellence visit.
• Coordination is essential. The pediatrician or primary care physician, or a multidisciplinary clinic, ensures the schedule actually happens.

What to ask at each visit

A common question we hear: "What should I ask each specialist?" Here's a quick guide.

Cardiology:

• How does this echocardiogram compare to last year's?
• Are there changes in my medication that we should consider?
• What should prompt a call between visits?
• Any updates on cardiac MRI or further studies needed?

Endocrinology:

• Is my HbA1c at goal?
• Should we adjust insulin or other medications?
• How are my lipids and triglycerides?
• Any new diabetes technology that might help?

Ophthalmology:

• How does this year's exam compare?
• What's the rate of change?
• Are there new vision aids that might help?
• Any clinical trials we should know about?

Audiology:

• How does this audiogram compare?
• Should we update hearing aids or consider cochlear implants?
• Any new accessibility tools?

Nephrology:

• How is my eGFR trending?
• Are we doing everything to slow progression?
• Should I be making any dietary changes?

Hepatology:

• How does my liver imaging look?
• Any signs of progression to fibrosis?
• Should we change or add medications?

How to use this tool

1. Print or save a copy when first using

2. Update annually with your medical team

3. Re-run when complications change

4. Hand updated copies to new specialists

Related reading

• Cardiac Monitoring Schedule for Alström Syndrome
• Eye Care Routine for Alström Syndrome
• Annual Audiology Tests for Alström Syndrome
• The Care Team for Alström Syndrome
• How to Prepare for an Alström Specialist Appointment

This schedule is for informational purposes only and is not a substitute for medical advice from your or your child's healthcare team. Adapted from the 2020 international consensus management guidelines (Tahani et al.).

References

1. Tahani N, Maffei P, Dollfus H, et al. Consensus clinical management guidelines for Alström syndrome. Orphanet J Rare Dis. 2020;15(1):253.