# Alström Syndrome ER Quick-Reference Card

A printable, fillable card for emergency rooms, first responders, and unfamiliar healthcare providers. Print, fill in, and keep one in each car, wallet, and bag — and one on the refrigerator at home.

This document contains:

1. Front of card — patient identification and condition summary (designed to fit on a single side of a 4×6 index card or business card)

2. Back of card — current medications and emergency contacts

3. Extended ER summary — a more detailed printable handout for clinicians who want to know more

4. Fill-in-the-blank template — copy and customize for your child or yourself

Designed to be folded into a wallet or laminated for repeated use. Update annually or when significant medical information changes.

CARD — Front Side (Print on 4×6 card)

═══════════════════════════════════════════════════════════════
  MEDICAL ALERT — ALSTRÖM SYNDROME
═══════════════════════════════════════════════════════════════

  Patient name: __________________________________________
  Date of birth: _____________  Age: _______
  Weight: _________ kg / _________ lbs (date: _________)

  CONDITION: Alström Syndrome (OMIM #203800)
  ALMS1 mutations: ____________________  / ____________________

  KEY MEDICAL ISSUES (check all that apply):
  ☐ Cone-rod dystrophy (severe vision loss / blind)
  ☐ Sensorineural hearing loss (☐ hearing aids ☐ cochlear implant)
  ☐ Dilated/restrictive cardiomyopathy
  ☐ Type 2 diabetes (insulin: yes/no, dose: _____ units/day)
  ☐ Sleep apnea (CPAP/BiPAP at home)
  ☐ Chronic kidney disease (eGFR: _____ )
  ☐ Liver disease / NAFLD
  ☐ Severe insulin resistance

  PRIMARY ALLERGIES: _____________________________________

  EMERGENCY CONTACT 1: ___________________________________
                          __________________________________

  EMERGENCY CONTACT 2: ___________________________________
                          __________________________________

  PRIMARY DOCTOR: _______________________________________
  PHONE: ________________________________________________

═══════════════════════════════════════════════════════════════
   THIS IS A RARE GENETIC CONDITION (1 in 1,000,000).
   PLEASE READ REVERSE OR ATTACHED FOR DETAILS.
═══════════════════════════════════════════════════════════════

CARD — Back Side

═══════════════════════════════════════════════════════════════
  CURRENT MEDICATIONS
═══════════════════════════════════════════════════════════════

  Medication               Dose             Frequency
  ─────────────────────────────────────────────────────────────
  ____________________     ____________     ___________________
  ____________________     ____________     ___________________
  ____________________     ____________     ___________________
  ____________________     ____________     ___________________
  ____________________     ____________     ___________________
  ____________________     ____________     ___________________

  IF DIABETIC:
  Most recent HbA1c: _______ (date: _______)
  Insulin pump: yes / no    CGM: yes / no

  IF CARDIAC INVOLVEMENT:
  Most recent echo EF: _______ %  (date: _______)
  Most recent BNP: _______       (date: _______)

  IF KIDNEY DISEASE:
  Most recent creatinine: _______  (date: _______)

═══════════════════════════════════════════════════════════════
  KEY SPECIALIST CONTACTS
═══════════════════════════════════════════════════════════════

  Cardiologist:  _________________________________________
                 Phone: __________________________________

  Endocrinologist: _______________________________________
                   Phone: ________________________________

  Geneticist: ____________________________________________
              Phone: _____________________________________

  Center of Excellence: __________________________________
                        Phone: ___________________________

═══════════════════════════════════════════════════════════════
  ER STAFF: PLEASE NOTIFY PRIMARY CARE / SPECIALIST TEAM
  PROMPTLY OF ANY ED PRESENTATION OR ADMISSION.
═══════════════════════════════════════════════════════════════

Extended ER summary handout (1-page A4 / Letter)

For clinicians who want more detail. Print and attach to medical records or hand to the ED physician on arrival.

ALSTRÖM SYNDROME — INFORMATION FOR EMERGENCY/UNFAMILIAR CLINICIANS

PATIENT: _______________________________________________________

CONDITION SUMMARY
Alström Syndrome (OMIM #203800) is an ultra-rare autosomal recessive
ciliopathy caused by biallelic loss-of-function variants in the ALMS1
gene on chromosome 2. Approximately 1 in 1,000,000 people are affected.
The condition is multisystem and progressive, affecting eyes, ears,
heart, metabolism, kidneys, liver, lungs, and other systems over time.

KEY FEATURES IN THIS PATIENT
☐ Progressive cone-rod dystrophy with photophobia, nystagmus,
  and severe central vision impairment
☐ Sensorineural hearing loss (hearing aids ☐ / cochlear implants ☐)
☐ Cardiomyopathy: history ___________________________________
  Current ejection fraction (date): ___________________________
☐ Type 2 diabetes — usually severe insulin resistance,
  high insulin requirements (current insulin TDD: _______ units)
☐ Truncal obesity / metabolic syndrome
☐ Hypertriglyceridemia (most recent: _______ mg/dL)
☐ Chronic kidney disease (most recent eGFR: _______, creatinine: _______)
☐ NAFLD / liver involvement
☐ Sleep apnea (CPAP/BiPAP — bring device when admitted)

CRITICAL CLINICAL CONSIDERATIONS
1. ANESTHESIA — Cardiac considerations are critical. If sedation
   or general anesthesia is being considered, please consult
   anesthesia and cardiology before proceeding when feasible.

2. INSULIN MANAGEMENT — Patients with Alström often require
   insulin doses far higher than typical type 2 diabetes patients.
   Do not assume standard ranges; verify usual requirement before
   adjusting.

3. PHOTOPHOBIA / VISION — Patient is sensitive to bright lighting.
   Reduce ambient light when possible. Patient cannot rely on visual
   information for orientation.

4. HEARING LOSS — Speak clearly and face the patient or accompanying
   family member. Consider written communication or use of an
   intervener if needed.

5. CARDIOMYOPATHY HISTORY — Even if currently asymptomatic, history
   of cardiomyopathy means cardiac status should be assessed before
   any significant intervention. Avoid significant fluid overload.

6. KIDNEY FUNCTION — Adjust medication dosing for kidney function.
   Avoid nephrotoxic agents when possible (NSAIDs, IV contrast
   without prophylaxis).

7. CONNECT WITH SPECIALIST TEAM — Patient's primary care and
   subspecialty teams should be notified of any ED presentation.

WHEN SHOULD YOU TEST FOR ALSTRÖM SYNDROME (if undiagnosed)?
Consider Alström if a patient presents with combinations of:
- Severe early-life photophobia + nystagmus
- Cone-rod dystrophy (any age)
- Unexplained dilated cardiomyopathy in infancy
- Bilateral progressive sensorineural hearing loss in childhood
- Childhood obesity + early type 2 diabetes
- Combined retinal disease + cardiomyopathy (any age)
Genetic testing: ALMS1 sequencing or comprehensive ciliopathy panel.

REFERENCES
- GeneReviews®: Alström Syndrome
  https://www.ncbi.nlm.nih.gov/books/NBK1267/
- 2020 International Consensus Management Guidelines (Tahani et al.)
  Orphanet J Rare Dis. 2020;15(1):253.
- NORD: rarediseases.org/rare-diseases/alstrom-syndrome
- Alström Syndrome International: alstrom.org
- Alström Syndrome UK: alstrom.org.uk

PATIENT-FACING RESOURCE: https://myalstrom.com

How to use this card

Prepare the card

1. Print both sides (or print as a 2-page document)

2. Fill in patient-specific information

3. Have the medical reviewer (your child's pediatrician or specialist) sign or initial the card to validate the medical content

4. Update annually or when significant medical information changes

Make multiple copies

  • One in each parent's wallet
  • One in the family car (glove compartment)
  • One in the diaper/medical bag
  • One on the refrigerator at home (where first responders are trained to look)
  • One in the school nurse's office
  • One with the babysitter or backup caregivers
  • One with the Yellow Dot or similar emergency-info program in your area, if applicable
  • Consider laminated versions for durability

When to use it

  • Visiting an ER or urgent care
  • After-hours coverage with an unfamiliar physician
  • Travel — bring extras when traveling
  • During hospital admissions
  • Any new healthcare provider's first visit

Other emergency identification options

  • Medical alert bracelet with "Alström Syndrome" and a phone number
  • iPhone Medical ID — accessible from lock screen, no unlock needed
  • Android Personal Safety / Medical info — similar
  • Yellow Dot programs in many US states — sticker on car alerting first responders to look for medical info
  • Pre-Hospital Medical Care Directives for adults

Digital version

If your CMS supports it, also offer:

  • A web-based version of this card that families can fill in online and download as PDF
  • A web-based "share with provider" link that produces a printable summary
  • Integration with patient portals so the information is directly available to ER staff at major hospitals

When to update the card

Update the card promptly when:

  • Medication changes
  • New specialists added
  • Major test results change (HbA1c, EF, eGFR)
  • New diagnoses or complications
  • New allergies
  • New emergency contacts
  • Cochlear implant placement
  • Pump or CGM started
  • Recent significant hospitalizations

Plan to review annually as part of yearly medical visits.

Important notes

  • This card supplements, doesn't replace, communication with your medical team
  • ER staff still need to evaluate the specific situation
  • The information here is general — specifics depend on your or your child's medical situation

Frequently Asked Questions

Will ER staff actually read this?

Most do. Even when busy, the card serves as quick orientation that helps them ask the right questions and call the right specialists. A medical-alert bracelet directs attention to the wallet card or phone medical ID.

What if my child can't communicate?

The card speaks for them. Have it accessible to first responders — the wallet, the school nurse, the refrigerator are common places.

Should we include genetic test results?

A summary (the actual variants) helps if specialist clinicians want to look them up. The full report is in your care binder; the card is for quick orientation.

Can I get a wallet card pre-made?

MedicAlert Foundation, Lauren's Hope, and similar services produce wallet cards and bracelets. Custom services often offer Alström-specific cards. Patient organizations (ASI, ASUK) sometimes provide them as members benefits.

This card template is for informational purposes only and is not a substitute for direct communication with your medical team. The information you fill in should be verified by your medical team.

Template last updated April 30, 2026. Update your filled card annually or when medical information changes.