IllnessLoeys-Dietz-/ Marfan-/ vaskuläres Ehlers-Danlos-Syndrom, Differentialdiagnose

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[Sanger]

Group of diseasesMP6544 Loeys-Dietz / Marfan / vascular Ehlers-Danlos syndrome, differential diagnosis

The clinical differential diagnosis between patients with Marfan (MFS), Loeys-Dietz syndrome (LDS) and those with the Ehlers-Danlos (EDS) vascular type is sometimes quite difficult, especially in the early stages and when the condition is mild. MFS patients have ectopia lentis and remarkably long limbs. Patients with LDS tend to have more translucent skin, and the veins are clearly visible. Severe scarring and slight bruising are more common in LDS patients. Clubfoot, heart defects and cleft palate are more frequently associated with LDS. LDS is similar to the vascular EDS type in terms of skin findings. In both LDS and vascular type EDS, arterial aneurysms are relatively common, spontaneous organ ruptures are less common. Clubfoot is observed in both diseases. Hypertelorism and bifidal uvulas are more common in LDS.

The "classic" MFS is caused by mutations in the FBN1 gene (approx. 95% mutation detection probability in patients meeting the clinical criteria). LDS can be caused by mutations in six genes (SMAD2, SMAD3, TGBF2, TGBF3, TGFBR1, TGFBR2). COL3A1 mutations cause vascular EDS.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1133/https://www.ncbi.nlm.nih.gov/books/NBK1335/https://www.ncbi.nlm.nih.gov/books/NBK1494/

https://www.ncbi.nlm.nih.gov/books/NBK1120/

• Allelic: Acromicric dysplasia (FBN1)
• Allelic: Caffey disease (COL1A1)-IV
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 6 (TGFBR2)
• Allelic: Ectopia lentis, familial (FBN1)
• Allelic: Esophageal cancer, somatic (TGFBR2)
• Allelic: Geleophysic dysplasia 2 (FBN1)
• Allelic: MASS syndrome (FBN1)
• Allelic: Macular degeneration, early-onset (FBN2)
• Allelic: Marfan lipodystrophy syndrome (FBN1)
• Allelic: Multiple self-healing squamous epithelioma, susceptibility to (TGFBR1)
• Allelic: Neural tube defects, folate-sensitive, susceptibility to (MTRR)
• Allelic: Osteogenesis imperfecta, type I (COL1A1)
• Allelic: Polymicrogyria with/-out vascular-type EDS (COL3A1)
• Allelic: Stiff skin syndrome (FBN1)
• Allelic: Weill-Marchesani syndrome 2, AD (FBN1)
• Contractural arachnodactyly, congenital (FBN2)
• DD: Dunbar-/ Ligamentum-arcuatum syndrome stomach pain: compressed A. coeliaca (Truncus coeliacus)
• Ehlers-Danlos syndrome, arthrochalasia type, 1 (COL1A1)
• Ehlers-Danlos syndrome, vascular type (COL3A1)
• Loeys-Dietz syndrome 1 (TGFBR1)
• Loeys-Dietz syndrome 2 (TGFBR1)
• Loeys-Dietz syndrome 3 (SMAD3)
• Loeys-Dietz syndrome 4 (TGFB2)
• Marfan syndrome (FBN1)