Together in Care and Discovery

Alström Syndrome is an ultra-rare, autosomal recessive ciliopathy caused by pathogenic variants in ALMS1. It is characterized by progressive multiorgan involvement, including retinal dystrophy, sensorineural hearing loss, cardiomyopathy, metabolic dysfunction, and systemic fibrosis. Diagnosis is best confirmed through molecular genetic testing. Clinical suspicion should increase when multiple system involvement presents early in life.

Common early features include:

• Cone-rod dystrophy with nystagmus and photophobia in infancy

• Progressive sensorineural hearing loss

• Dilated or restrictive cardiomyopathy

• Severe early-onset obesity, insulin resistance, or type 2 diabetes
  Other presentations may include developmental delay, hepatic dysfunction, or renal impairment. Symptom expression and progression vary significantly.

There is no curative therapy. Management is multidisciplinary, with routine surveillance and early intervention for cardiac, metabolic, hepatic, renal, endocrine, and ophthalmologic complications. Evidence-based care is focused on reducing morbidity, slowing progression of organ dysfunction, and supporting functional development.

Recommended care team composition includes:

• Primary care physician overseeing integrated management

• Cardiology (cardiomyopathy surveillance and treatment)

• Endocrinology and metabolic care

• Ophthalmology and audiology

• Hepatology, nephrology, nutrition, and pulmonary support
  Access to rare disease clinics with experience in ciliopathies is ideal.

• Structured nutrition and physical therapy programs

• Early and ongoing speech, occupational, and mobility therapies

• Proactive glucose and lipid control to mitigate cardiometabolic burden
  These interventions may slow disease progression and maintain functional independence.

For patients with Alström Syndrome admitted to the hospital or outpatient facilities, even if for routine minor surgery, it is vitally important that medical and nursing staff is aware that hypoxia (low blood oxygen levels) can occur very rapidly in patients with Alström Syndrome.   In some patients, this has led to life-threatening heart/lung problems because of the reduced reserve capacity of the cardiorespiratory system.  Please use all precautions for monitoring oxygen saturation.

Alström Syndrome International provides:

• Family support and patient education resources

• Sibling programs

• Regular international family and research conferences
  Clinicians are encouraged to refer families early to reduce isolation and improve care navigation.

• Enrollment in the Alström International Patient Registry

• Referral to clinics with expertise in multisystem genetic disorders

• Access to validated educational materials
  Shared decision-making and proactive care planning are essential due to progressive disease course.