What is the Difference Between Ehlers Danlos and Marfan Syndrome?
🆚 Go to Comparative Table 🆚Ehlers-Danlos syndrome (EDS) and Marfan syndrome (MFS) are both multisystemic disorders that primarily affect the connective tissues, which include the heart, blood vessels, skin, joints, bones, eyes, and lungs. However, they have distinct manifestations and genetic causes.
Ehlers-Danlos syndrome is a group of clinically and genetically heterogeneous connective tissue disorders, with six subtypes currently recognized. The most common features of EDS include skin hyperextensibility, atrophic scarring, joint hypermobility, and generalized tissue fragility. EDS is caused by various gene mutations, affecting different types of collagen or the proteins that interact with collagen.
On the other hand, Marfan syndrome is an autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene, which codes for the extracellular matrix protein fibrillin-1. MFS is characterized by cardiovascular, ocular, and skeletal manifestations, with common features including aortic disease (e.g., aortic aneurysm and dissection), joint hypermobility, and tall stature with disproportionately long extremities.
While both disorders share some overlapping features, such as joint hypermobility and aortic aneurysm, they have distinct clinical presentations and genetic causes. EDS is characterized by skin hyperextensibility and tissue fragility, while MFS is associated with cardiovascular, ocular, and skeletal manifestations.
Comparative Table: Ehlers Danlos vs Marfan Syndrome
Ehlers-Danlos syndrome (EDS) and Marfan syndrome (MFS) are both heritable connective tissue disorders (HCTD) that affect various organ systems, including the heart, blood vessels, skin, joints, bone, eyes, and lungs. They share some degree of phenotypical overlap in cardiovascular, skeletal, and cutaneous features. Here is a table highlighting the differences between Ehlers-Danlos syndrome and Marfan syndrome:
| Feature | Ehlers-Danlos Syndrome (EDS) | Marfan Syndrome (MFS) |
|---|---|---|
| Genetic Defect | Mutations in genes encoding collagen types I, III, and V | Heterozygous mutations in FBN1, coding for the extracellular matrix protein fibrillin-1 |
| Primary Manifestations | Joint hypermobility, skin hyperextensibility, and tissue fragility | Cardiovascular, ocular, and skeletal manifestations |
| Cardiovascular Issues | Up to one quarter of EDS patients show aortic aneurysmal disease | Aortic aneurysm, aortic dissection, and mitral valve prolapse |
| Joint Manifestations | Hypermobile and less commonly hypomobile joints | Joint hypermobility, tall stature with disproportionately long extremities |
| Skin Manifestations | Skin hyperextensibility, bruising, and slow wound healing | Stretchable skin with reduced elastic recoil, striae, and hernias |
| Ocular Manifestations | Subluxation of the lens of the eye | Ectopia lentis |
| Prevalence | Estimated prevalence ranges from 1:5,000 to 1:25,000 | Estimated prevalence ranges from 1:5,000 to 1:25,000 |
| Subtypes | Classified into 13 different types based on clinical presentation, genetic defect, and type of collagen affected | No subtypes |
Please note that this table does not cover all the clinical features and manifestations of these syndromes. It is intended to provide a general overview of their differences.
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