Sirolimus for diffuse intestinal infantile hemangioma with PHACE features: systematic review

Area of Science:

• Pediatric Gastroenterology
• Genetics and Genetic Diseases
• Vascular Anomalies

Background:

• Infantile hemangioma (IH) can manifest in the gastrointestinal tract, presenting as diffuse intestinal infantile hemangioma (IIH).
• PHACE syndrome, a complex of anomalies, includes posterior fossa, facial, and visceral abnormalities, with IH being a key feature.
• IIH poses significant clinical challenges, often leading to gastrointestinal bleeding and anemia, with limited treatment options.

Approach:

• A systematic review of 4933 articles identified 46 cases of IIH, analyzing presentations, treatments, and outcomes.
• The study also details a unique case of a 3-month-old infant with cardiovascular anomalies and IIH, treated with sirolimus.
• Literature search encompassed PubMed, EMBASE, and Ovid MEDLINE from 1982 to 2021.

Key Points:

• Gastrointestinal bleeding (40%) and anemia (38%) were the most common IIH presentations.
• Corticosteroids (63%), surgical resection (32.6%), and propranolol (28%) were the most frequent treatments, with bleeding arrest in 84% of cases.
• A significant proportion of IIH cases were associated with PHACE syndrome (definite or possible in 30.5%).

Conclusions:

• Sirolimus demonstrated efficacy in regressing IIH in a patient refractory to propranolol, marking a novel therapeutic approach.
• The findings support the consideration of IIH as a potential diagnostic criterion for PHACE syndrome.
• Further research is warranted to explore the correlation between IIH and PHACE syndrome and optimize treatment strategies.