Tenascin-X Deficiency Causing Classical-Like Ehlers-Danlos Syndrome Type 1 in Humans is a Significant Risk Factor of...

Area of Science:

• Genetics and rare diseases
• Connective tissue disorders
• Gastrointestinal and respiratory medicine

Background:

• Classical-like Ehlers-Danlos syndrome type 1 (clEDS1) is a rare genetic disorder caused by tenascin-X deficiency.
• Tenascin-X is vital for extracellular matrix and collagen stability.
• Previous studies suggested a risk of gastrointestinal (GI) perforations and tracheal ruptures in clEDS1 patients.

Purpose of the Study:

• To characterize GI perforations and tracheal ruptures in individuals with clEDS1.
• To assess the frequency and nature of these severe complications.
• To inform clinical management and preventive strategies for clEDS1.

Main Methods:

• An international case series of individuals with confirmed clEDS1 and GI/tracheal events was compiled.
• Retrospective assessment of clinical features was performed.
• Data from previously reported cases were included.

Main Results:

• Fifteen clEDS1 individuals were included in the study.
• Ten experienced spontaneous GI perforations, with seven having multiple perforations and severe diverticulosis.
• Three individuals suffered iatrogenic tracheal ruptures.

Conclusions:

• Severe GI complications and tracheal ruptures are significantly more common in clEDS1 than in the general population.
• Vigilance is advised during intubation and GI endoscopic procedures for clEDS1 patients.
• Referrals to clinical geneticists are recommended for suspected clEDS1 cases, especially with unexplained GI perforations and connective tissue symptoms.