Epidemiology

• Increased incidence in Puerto Ricans and inhabitants of Southern Holland

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Physiology

• Autosomal recessive
• Deficiency of unknown enzyme: accumulation of a chromolipid ceroid (related to lipofuscin) in reticuloendothelial system
  • Partial tyrosine-negative albinism
  • Qualitative platelet defect

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Pathologic Patterns

• Desquamative interstitial pneumonia (DIP):
• Usual interstitial pneumonia (UIP): may be seen
• Honeycombing

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Diagnosis

• CXR/Chest CT Patterns
  • ILD: reticulonodular infiltrates
  • Honeycombing: small cystic changes (seen best in lower fields) seen late in course
    • Radiographic honeycombing correlates well with pathologic honeycombing
• FOB
  • BAL may recover ceroid-containing macrophages (which stain with Fontana-Masson silver reduction techniques)
• OLB: extensive fibrosis of interstitium and filling of alveolar spaces with ceroid-containing macrophages

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Clinical

Pulmonary Manifestations

• Interstitial Lung Disease (see ILD-Etiology, [[ILD-Etiology]])
  • Epidemiology: occurs in females>males
  • Diagnosis
    • CXR/Chest CT: reticular pattern -> may progress to honeycombing
    • PFT’s: restrictive pattern with decreased DLCO
  • Clinical: onset in teens-30’s
  • Treatment and Prognosis: usully slowly progressive and unresponsive to treatment
• Pulmonary Hypertension (see Pulmonary Hypertension, [[Pulmonary Hypertension]])
  • Occurs late in course

Hematologic Manifestations

• Platelet Dysfunction:

Derm/Ocular Manifestations

• Oculocutaneous Albinism (partial): tyrosine-negative

GI Manifestations

• Granulomatous Colitis

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Treatment

• ILD: usually unresponsive to treatment

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References

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