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Consensus clinical management guidelines for Alström syndrome.
Natascia Tahani1, Pietro Maffei2,3, Hélène Dollfus4,5
1Department of Diabetes, Endocrinology and Metabolism, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham, B15 2TH, UK.
Orphanet Journal of Rare Diseases
|September 22, 2020
Summary
Alström Syndrome (ALMS) is a rare genetic disorder affecting multiple systems, causing progressive visual and hearing loss, obesity, and organ dysfunction. Early diagnosis and expert multidisciplinary care are crucial for managing ALMS and improving patient outcomes.
Area of Science:
- Genetics and Rare Diseases
- Pediatric Multisystem Disorders
- Clinical Guidelines Development
Background:
- Alström Syndrome (ALMS) is an ultra-rare, autosomal recessive genetic disorder caused by ALMS1 gene variants.
- It is a progressive multisystem disease with variable onset, affecting vision, hearing, cardiac, metabolic, liver, renal, and endocrine functions.
- Higher incidence in isolated populations necessitates awareness and specialized care.
Purpose of the Study:
- To establish evidence-based guidelines for the standard of care in Alström Syndrome.
- To provide a framework for diagnosis, management, and multidisciplinary care for all age groups.
- To improve the quality of life for patients with ALMS through early intervention.
Main Methods:
- Systematic literature review.
- Incorporation of authors' clinical experience with ALMS patients.
- Adoption of the Appraisal of Guidelines for Research & Evaluation (AGREE II) system for guideline development, evidence grading, and recommendation strength.
Main Results:
- Guidelines define the standard of care for suspected or diagnosed Alström Syndrome.
- Recommendations cover multidisciplinary and multiprofessional team management.
- Emphasis on early diagnosis and intervention to slow disease progression.
Conclusions:
- Multidisciplinary expert teams are essential for optimal Alström Syndrome patient management.
- Adherence to these guidelines can lead to improved patient outcomes and quality of life.
- These guidelines serve specialists, primary caregivers, and patients/families.
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