Ehlers‐Danlos syndrome type IV: A subset of patients distinguished by low serum levels of the amino‐terminal propeptide of type III procollagen

Steinmann, Beat; Superti‐Furga, Andrea; Joller‐Jemelka, H. I.; Cetta, Giuseppe; Byers, Peter H.

doi:10.1002/ajmg.1320340113

Cited by 25 publications

(8 citation statements)

References 26 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…It has been suggested that measurement of serum amino-terminal propeptide of type III procollagen (P-III-NP) may also provide a useful marker of disease. 14 importance of type III collagen defects in individuals with aneurysms in the absence of the vascular EDS phenotype.…”

Section: Vascular Type (Iv)mentioning

confidence: 99%

The molecular genetics of the Ehlers-Danlos syndrome

1999

Clinical and Experimental Dermatology

View full text Add to dashboard Cite

The identification and investigation of many inherited disorders has an importance out of proportion to their frequency because of the insights they provide into physiological, pathological and molecular mechanisms. This is true of the heritable disorders of connective tissue which are a diverse group of conditions involving cutaneous, musculoskeletal, cardiovascular, ocular, gastrointestinal and pulmonary systems. The Ehlers-Danlos syndrome (EDS), which shows great clinical variability and genetic heterogeneity, is one example which has particular relevance to the dermatologist and is the focus of this review.

show abstract

Section: Vascular Type (Iv)mentioning

confidence: 99%

The molecular genetics of the Ehlers-Danlos syndrome

1999

Clinical and Experimental Dermatology

View full text Add to dashboard Cite

show abstract

“…These complications relate to a reduced strength of the vascular and hollow organ soft tissue. Diagnosis of EhlersDanlos syndrome type IV is confirmed by fibroblast culture demonstrating reduced levels of collagen 3A [21] or by identifying germline missense or nonsense mutations in the COL3A1 gene.…”

Section: Introductionmentioning

confidence: 99%

“…Spontaneous bowel perforation may be the first presentation of the disease. It may be clinically and pathologically misinterpreted as diverticular perforation, as diverticula occur secondary to the reduced resistance of the submucosal soft tissue [3,21]. Only few reports on structural abnormalities in perforated colons of Ehlers-Danlos syndrome type IV are available [3,5].…”

Section: Introductionmentioning

confidence: 99%

Pathology of the large intestine in patients with vascular type Ehlers-Danlos syndrome

et al. 2007

View full text Add to dashboard Cite

The vascular type of Ehlers-Danlos syndrome (type IV) is an infrequent disease caused by heterozygous germline mutations in the procollagen 3A gene (COL3A1). Clinical signs include characteristic facial features, easy bruising, and a translucent skin. These signs are less obvious than the hyperflexibility of skin and joints seen in other types of Ehlers-Danlos syndrome. Therefore, diagnosis of Ehlers-Danlos syndrome type IV is usually not considered until complications have occurred. Complications include spontaneous ruptures of vessels and hollow organs, particularly the colon. We, herein, report pathologic findings in colon specimens from related Ehlers-Danlos syndrome type IV patients. Thorough examination revealed abnormalities of the large bowel architecture including abrupt changes in the caliber of the lamina muscularis, secondary diverticula formation, and strongly reduced expression of abnormal collagen 3. These findings are not seen in other diseases of the colon and should prompt the pathologist to include Ehlers-Danlos syndrome type IV in the differential diagnosis of spontaneous bowel perforation in younger patients.

show abstract

“…In a major subset of patients affected by EDS type IV, the amount of procollagen III-aminopropeptide is low and the fibroblasts secrete only a small amount of procollagen III. 17 Genetically, a low serum procollagen IIIaminopropeptide level or a defect in the collagen type III metabolism may be used to screen other family members. The linkage of EDS type IV with COL3A1, a direct demonstration of a gene defect, or protein studies on chronic villous biopsy specimens are all methods for making a prenatal diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Ruptured Dissecting Aneurysm in Bilateral Iliac Arteries Caused by Ehlers-Danlos Syndrome Type IV: Report of a Case

et al. 2001

View full text Add to dashboard Cite

Ehlers-Danlos syndrome (EDS) is an inherited disorder of connective tissue characterized by hyperextensible skin, hypermobile joints, and abnormalities of the cardiovascular system. Ten types and several subtypes of EDS have so far been recognized based on genetic, clinical, and biochemical characteristics. The spectrum of the disorder varies from mild to life-threatening vascular complications. EDS type IV is a particularly dangerous form with a lethal spontaneous rupture of the major arteries and aneurysmal formation. We present herein a case of a ruptured dissecting aneurysm in the bilateral iliac arteries caused by EDS type IV. A previously healthy 33-year-old man without any physical features of this connective tissue disorder experienced a metachronous vascular rupture two times. Successful synthetic bypass grafting was performed with great difficulty. The diagnosis of EDS type IV was made afterwards based on an electrophoresis analysis of a skin biopsy specimen which revealed a lack of type III collagen. Surgical intervention in cases of arterial complications in EDS type IV patients have been reported to be both difficult and frequently unsuccessful. The early clinical recognition of this syndrome is therefore of great importance due to the hazards of such surgical therapies.

show abstract

Ehlers‐Danlos syndrome type IV: A subset of patients distinguished by low serum levels of the amino‐terminal propeptide of type III procollagen

Cited by 25 publications

References 26 publications

The molecular genetics of the Ehlers-Danlos syndrome

The molecular genetics of the Ehlers-Danlos syndrome

Pathology of the large intestine in patients with vascular type Ehlers-Danlos syndrome

Ruptured Dissecting Aneurysm in Bilateral Iliac Arteries Caused by Ehlers-Danlos Syndrome Type IV: Report of a Case

Contact Info

Product

Resources

About