Lung and Breathing Problems in Alström Syndrome

Pulmonary involvement in Alström Syndrome takes different forms at different ages. Children often have recurrent respiratory infections and asthma-like symptoms. Adults sometimes develop pulmonary fibrosis or pulmonary hypertension. Sleep apnea is common across age groups. This article covers the spectrum of lung involvement and how it's managed.

Recurrent respiratory issues are common in children with Alström and often become more noticeable in the early years. A 2017 study of 38 patients with Alström found:¹

• Chronic respiratory infections — recurrent bronchitis, sinusitis
• Wheezing and asthma-like symptoms — sometimes responsive to inhaled medications
• Persistent nasal congestion or rhinorrhea
• Higher rates in children under 5 compared to older patients

The underlying mechanisms include cilia dysfunction in airway epithelial cells, which contributes to impaired clearance of secretions, and the generally increased burden of metabolic and immune-related issues.

Management in children

• Treatment of acute infections — antibiotics when bacterial, supportive care otherwise
• Inhaled bronchodilators and corticosteroids for asthma-like symptoms
• Nasal saline irrigation and topical steroids for chronic sinusitis
• Vaccinations — keep up-to-date including flu and pneumococcal
• Respiratory hygiene — handwashing, avoiding sick contacts when possible
• Avoiding tobacco smoke and vaping

Some children with frequent infections benefit from chest physiotherapy or specialized airway clearance techniques.

Sleep apnea is common in Alström across age groups due to:

• Truncal obesity affecting airway dynamics
• Possibly direct effects on respiratory control

Untreated sleep apnea worsens insulin resistance, blood pressure, cardiac function, and daytime fatigue. We cover this in detail in Sleep Apnea and CPAP in Alström Syndrome.

Indications for sleep study

• Snoring with witnessed apneas
• Daytime sleepiness
• Morning headaches
• Restless sleep
• Poor school or work performance
• Worsening cardiac or metabolic markers

Lung issues in adults with Alström can include:

Pulmonary fibrosis

Some adults develop interstitial lung disease and pulmonary fibrosis — scarring of lung tissue that impairs oxygen exchange. Symptoms include progressive shortness of breath and dry cough. Management involves a pulmonologist; some patients benefit from anti-fibrotic medications.²

Pulmonary hypertension

Elevated pressure in the pulmonary arteries can develop, sometimes related to:

• Underlying lung disease
• Cardiac involvement
• Chronic hypoxia from sleep apnea

Pulmonary hypertension specialists manage this with medications and surveillance.

Bronchiectasis

Permanent dilation of the airways with chronic infection — described in some Alström patients, particularly with chronic respiratory issues from childhood.³

Obesity hypoventilation syndrome

In some adults with significant obesity, the lungs can't ventilate effectively — leading to chronic carbon dioxide retention. Treatment involves CPAP/BiPAP and weight management.

The 2020 international consensus guidelines recommend:⁴

Pediatric pulmonary surveillance

• Pulmonary history at routine visits
• Sleep study if symptoms suggest sleep apnea
• Chest imaging if respiratory issues persist

Adult pulmonary surveillance

• Annual pulmonary history and exam
• Sleep study at diagnosis and as symptoms warrant
• Spirometry (lung function tests) periodically
• Chest imaging as clinical indications arise

Reasons to involve pulmonary specialty care:

• Recurrent or chronic respiratory infections
• Asthma not responding to standard treatment
• Suspected sleep apnea
• Progressive shortness of breath
• Suspected pulmonary fibrosis or pulmonary hypertension
• Pre-operative respiratory assessment

• Sleep Apnea and CPAP in Alström Syndrome
• Childhood Obesity in Alström Syndrome
• Cardiac Monitoring Schedule for Alström Syndrome

April 30, 2026.