ABOUT EHLERS-DANLOS SYNDROME

Years of unexplained symptoms — hypermobility, fragile skin, chronic pain — and a medical system that couldn't connect them. The connection is genetic, and it has a name.

Whole genome sequencing identifies the specific genetic variants underlying EDS — giving you the molecular diagnosis that directs targeted care and long-term management.

COL5A1
COL3A1
TNXB

About this condition

Ehlers-Danlos Syndrome (EDS)

Ehlers-Danlos Syndrome comprises at least 14 distinct genetic subtypes, each caused by defects in collagen synthesis, processing, or stability. Classic EDS (cEDS), caused by COL5A1 mutations, produces severe skin hyperextensibility, atrophic scarring, and delayed wound healing. Vascular EDS (vEDS), caused by COL3A1 mutations, is the most life-threatening form — characterized by spontaneous vascular rupture, organ perforation, and median lifespan of about 51 years. Hypermobile EDS (hEDS), the most common form, remains genetically unresolved in most cases — likely involving multiple genes rather than a single identifiable mutation.

Prevalence is estimated at 1 in 2,500 to 1 in 5,000 overall, though variation exists across populations. Over 20 genes are now associated with EDS across all subtypes. Classic EDS predominantly affects individuals of European ancestry, while vascular EDS shows no strong ancestral bias. Age of symptom onset ranges from infancy (in classic forms with obvious skin findings) to early adulthood. Skin hyperextensibility, bruising, and joint hypermobility are often the earliest signs — sometimes dismissed as benign variants until a pathological finding (such as sudden arterial rupture) reveals the true diagnosis.

Understanding EDS subtype matters profoundly for medical management. A COL3A1 variant confirms vascular EDS and mandates aggressive surveillance: high-dose beta-blockers to reduce vascular stress, avoidance of contact sports and Valsalva maneuvers, and consideration of prophylactic vascular repair. A COL5A1 variant directs wound care strategies and activity guidance. For hEDS patients who remain genetically unresolved, a negative result confirms the clinical diagnosis stands — surveillance protocols continue even without molecular confirmation. Genetic cascade screening identifies first-degree relatives at risk, enabling early intervention.

Fourteen EDS subtypes exist, each with distinct genetic causes and drastically different long-term prognoses — from manageable skin involvement to life-threatening vascular rupture.

Gene locus: COL5A1 (9q34.3), COL3A1 (2q32.2), TNXB (6p21.33)

Standard panels cover only the most common EDS genes. Approximately 50% of non-hEDS patients receive no molecular diagnosis — missing the genetic subtype that guides treatment.

The specific EDS gene causing your symptoms may not be on the panel

Targeted EDS panels typically focus on COL5A1 and COL3A1, capturing the most common subtypes. However, over 20 genes are now associated with EDS across all subtypes — including TNXB, PLOD1, FKBP14, and others — many of which are rarely interrogated by standard panels. Structural variants, intronic mutations, and regulatory changes frequently go undetected by exome-focused sequencing. Whole genome sequencing provides complete interrogation of all known EDS genes, including regions that standard panels miss entirely.

Knowing the genetic cause changes the management for life

Genotype predicts phenotype — and phenotype predicts which clinical interventions matter most. A COL3A1 variant patient needs high-dose beta-blockers, activity restriction, and vascular monitoring; a COL5A1 patient needs wound care optimization and activity counseling. Approximately 50% of EDS patients remain genetically unresolved, making molecular diagnosis a game-changer for cascade screening and family planning. A genetic finding enables surveillance tailored to the specific genetic subtype and risk profile.

Years of unexplained symptoms — hypermobility, fragile skin, chronic pain — and a medical system that couldn't connect them. The connection is genetic, and it has a name.

Ehlers-Danlos Syndrome (EDS)

Standard panels cover only the most common EDS genes. Approximately 50% of non-hEDS patients receive no molecular diagnosis — missing the genetic subtype that guides treatment.

The specific EDS gene causing your symptoms may not be on the panel

Knowing the genetic cause changes the management for life

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