Multisystem Langerhans cell histiocytosis with liver dysfunction as the first presentation: A case report

Area of Science:

• Histiocytosis and related disorders
• Oncology
• Pathology

Background:

• Langerhans cell histiocytosis (LCH) is a rare clonal proliferative disease of Langerhans cells with unknown etiology.
• LCH diagnosis is challenging due to diverse clinical presentations and multi-organ involvement, ranging from isolated to systemic disease.

Purpose of the Study:

• To report a complex case of multisystem Langerhans cell histiocytosis (LCH) with initial liver dysfunction presentation.
• To highlight diagnostic difficulties in LCH due to atypical organ involvement and varied clinical manifestations.

Main Methods:

• Case report of a 35-year-old male diagnosed with multisystem LCH.
• Diagnostic procedures included skull and liver biopsies.
• Treatment involved chemotherapy, leading to partial remission.

Main Results:

• The patient presented with liver dysfunction, later diagnosed with LCH involving bones, lungs, spleen, liver, and bile ducts.
• Skull biopsy confirmed Langerhans cell infiltration, but liver biopsy showed sclerosing cholangitis without LCH cells.
• Atypical organ involvement and presentation led to diagnostic delays.

Conclusions:

• This case underscores the diagnostic complexities of LCH, particularly when presenting atypically.
• Findings may improve understanding of LCH pathophysiology, diagnosis, and treatment strategies.
• Early and accurate diagnosis is crucial for effective management of LCH.