1/82. Aneurysms and hypermobility in a 45-year-old woman.EDS type IV presents a diagnostic and therapeutic challenge to the primary care physician, surgeon, and rheumatologist. In patients for whom the diagnosis is known, avoidance of trauma, contact sports, or strenuous activities, joint bracing and protection, and counseling on contraception are helpful preventive strategies. In patients presenting with vascular, gastrointestinal, or obstetric complications, a history of hypermobility and skin fragility (easy bruising, abnormal scarring, poor wound healing) should lead to a suspicion of this diagnosis, and to caution in the use of certain invasive diagnostic and operative techniques. Efforts should be made to examine family members. Most importantly, when caring for such patients, the acute onset of headaches, chest pain, shortness of breath, and abdominal pain should arouse suspicion of a potentially catastrophic vascular or visceral event.- - - - - - - - - - ranking = 1keywords = family, family member, member (Clic here for more details about this article) |
2/82. Emergency repair of type A aortic dissection in type IV ehlers-danlos syndrome.ehlers-danlos syndrome type IV is a distinctive syndrome in which thin and fragile skin, premature ageing, bruising and scarring are combined with lethal or life-threatening arterial weakness. aortic rupture either at the aortic root and arch, or sometimes lower down the artery, are particularly characteristic. Even quite minor injury can produce dangerous vascular tearing and damage. Technical difficulties encountered in arterial repair or venous ligature are particularly worrying. The authors report the treatment of a ruptured type A aortic dissection associated with ehlers-danlos syndrome where the extreme fragility of the tissues and tendency to bleed posed a difficult task for the surgeon.- - - - - - - - - - ranking = 0.00054012438125229keywords = life (Clic here for more details about this article) |
3/82. ehlers-danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis.We report on a 43-year-old male patient with ehlers-danlos syndrome (EDS) type IV with acute myocardial infarction (MI) without organic coronary stenosis. The disease was complicated with pneumothorax, subcutaneous and mediastinal emphysema, and splenic artery rupture. Three of the patient's family members suffered sudden cardiac death or MI. A diagnosis of EDS type IV was confirmed by decreased production of type III collagen by 86%. Mutation analysis revealed a point mutation in the COL3A1 gene that substituted glycine for aspartate at amino acid position 877. This mutation had not been reported as pathogenic for EDS type IV. These findings suggest close linkage between the mutation and the phenotype with familial MI.- - - - - - - - - - ranking = 1keywords = family, family member, member (Clic here for more details about this article) |
4/82. Ruptured dissecting aneurysm in bilateral iliac arteries caused by Ehlers-Danlos syndrome type IV: report of a case.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.- - - - - - - - - - ranking = 0.00054012438125229keywords = life (Clic here for more details about this article) |
5/82. COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in ehlers-danlos syndrome II.We studied four affected individuals from a family of three generations with ehlers-danlos syndrome II. Type V collagen transcripts of affected individuals were screened by reverse transcriptase-polymerase chain reaction. Amplification of the exon 9-28 region of alpha1(V) yielded normal and larger products from the proband. Sequencing of cDNA revealed a 100-base pair insertion from the 3'-end of intron 13 between exons 13 and 14 in one allele. The genomic defect was identified as an A(-2)--> G substitution at the exon 14 splice acceptor site. A cryptic acceptor site -100 nucleotide within intron 13 is used instead of the mutant splice site. The insertion shifts the reading frame 1 and results in a stop codon within exon 17. The mutant transcript was much less abundant than normal allele product in untreated cultured fibroblasts but was approximately equimolar in cycloheximide-treated cells, suggesting that the mutation causes nonsense-mediated decay of mRNA. By RNase protection experiments, the level of mutant transcript was determined to be 8% that of the normal transcript in untreated proband fibroblasts. Relative to type I collagen, proband fibroblasts secreted only 65% of the amount of type V collagen secreted by normal controls. Selective salt precipitation of proband secreted collagen provided supportive evidence that the alpha chain composition of type V collagen remains alpha1(V)(2)alpha2(V) even in the context of alpha1(V) haploinsufficiency. Type V collagen incorporates into type I collagen fibrils in the extracellular matrix and is thought to regulate fibril diameter. Transmission electron micrographs of type I collagen fibrils in a proband dermal biopsy showed greater heterogeneity in fibril diameter than in a matched control. The proband had a greater proportion of both larger and smaller fibrils and occasional fibrils with a cauliflower configuration. Unlike the genotype/phenotype relationship seen for type I collagen defects and osteogenesis imperfecta, the null allele in this family appears to cause clinical features similar to those seen in cases with structural alterations in type V collagen.- - - - - - - - - - ranking = 1.7457780081258keywords = family (Clic here for more details about this article) |
6/82. Deficiency of the decorin core protein in the variant form of ehlers-danlos syndrome with chronic skin ulcer.decorin belongs to a family of small leucine-rich dermatan sulfate proteoglycans that are involved in the control of matrix organization and cell growth. Here, we described a patient whose skin glycosaminoglycans showed extremely decreased amount of dermatan sulfate compared with a normal control skin. This patient presented clinical features of ehlers-danlos syndrome with a chronic skin ulcer. Western blotting revealed that the deficiency of dermatan sulfate was due to the defect of decorin core protein. Beta-xyloside, an initiator of dermatan sulfate glycosaminoglycan chain elongation, enhanced the synthesis of dermatan sulfate in the fibroblasts of the patient to a similar extent to that of control. This result indicated that the enzymes for the elogation of dermatan sulfate side chains were normal. Northern blotting demonstrated remarkable reduction of decorin mRNA level, while biglycan mRNA level was concomitantly increased and procollagen alpha1(I) mRNA level was normal. cDNA and exons sequencing analysis showed there was no mutation in decorin gene of the patient. IL-1beta stimulated decorin expression to about 140% in control fibroblasts while about 110% in patient fibroblasts. On the other hand, TGF-beta1 resulted in 40% reductions of decorin expression in both control and patient fibroblasts. These data suggested that reduced decorin expression of fibroblasts from the patient of Ehlers-Danlos syndrome may be due to abnormalities in the regulatory regions, which is responsible for the IL-1beta stimulation.- - - - - - - - - - ranking = 0.87288900406291keywords = family (Clic here for more details about this article) |
7/82. Long-term survival in truncus arteriosus communis type A1 associated with ehlers-danlos syndrome--a case report.Long-term survival is rare in patients with truncus arteriosus communis type A1 due to the early appearance of pulmonary artery obstructive changes. A 48-year-old woman with truncus arteriosus communis type A1 diagnosed with chest radiography, two-dimensional echocardiography, and cardiac catheterization is presented. The right ventricular pressure was 108 mm Hg, whereas the systolic pulmonary artery pressure was 98 mm Hg. A concomitant diagnosis of the ehlers-danlos syndrome was made with clinical findings. The association of ehlers-danlos syndrome, in which a collagen synthesis defect is observed in arterial vessels, might have interfered with pulmonary artery intimal proliferation, thus precluding the appearance of advanced pulmonary artery luminal obstructive changes and allowing long-term survival.- - - - - - - - - - ranking = 0.00054012438125229keywords = life (Clic here for more details about this article) |
8/82. The Ehlers-Danlos specter revisited.Ehlers-Danlos type IV is a major concern to vascular surgeons because it is often associated with spontaneous hemorrhage from arteries containing decreased type III collagen. Five members of a family with Ehlers-Danlos type IV and a review of another family of five with Ehlers-Danlos type IV are reported. Evaluation of the recent family included clinical evaluation as well as assay of collagen production. The age range of the three involved females and two males was 7 to 52 years. The father of the affected family had a spontaneous colon perforation at age 39. His son, at age 27, had a spontaneous rupture of the iliac artery. Revascularization was accomplished with difficulty. His daughter had a large cerebral bleed. Two granddaughters, ages 7, have not had any bleeding or aneurysmal events. The amount of type III collagen was only 10% of normal in the patient with the iliac artery rupture. The three females all exhibited similarly low levels of type III collagen. The father's type III collagen level was not sufficiently low to confirm Ehlers-Danlos type IV, although he had a spontaneous colon perforation. In the other Ehlers-Danlos type IV family of five, the three surviving members had type III collagen levels as low as 5% of normal. Two family members died after spontaneous iliac rupture at ages 24 and 33. Both families exhibited an autosomal dominant inheritance pattern. Ehlers-Danlos type IV remains a challenging problem for vascular surgeons. It is transmitted as an autosomal dominant inheritance with a high degree of penetrance. Spontaneous arterial and intestinal perforations should alert the clinician to the possibility of Ehlers-Danlos type IV. patients should be evaluated noninvasively. Arterial repairs may not be successful in these patients because the vessels are extremely friable. Assays of collagen production are advisable in establishing the diagnosis.- - - - - - - - - - ranking = 5.3964220443622keywords = family, family member, member (Clic here for more details about this article) |
9/82. Spontaneous direct carotid-cavernous fistula in ehlers-danlos syndrome type IV: two case reports and a review of the literature.Two unrelated adults with ehlers-danlos syndrome type IV developed acute unilateral ophthalmoplegia and ipsilateral headache as a consequence of spontaneous (nontraumatic) direct carotid-cavernous fistulas. Because the interventional radiologist suspected the diagnosis of ehlers-danlos syndrome type IV, the carotid-cavernous fistulas were closed via the venous rather than the more standard arterial route in an attempt to avoid arterial dissection or rupture. In any patient presenting with a spontaneous direct carotid-cavernous fistula, family history and clinical examination should be targeted toward a diagnosis of ehlers-danlos syndrome type IV because of risks attendant to angiography and repair of the fistula. For these patients, ancillary medical care must be approached cautiously to avoid hollow viscus rupture. Molecular tests can be used to confirm the diagnosis and provide family members with accurate genetic counseling and predictive genetic testing.- - - - - - - - - - ranking = 1.8728890040629keywords = family, family member, member (Clic here for more details about this article) |
10/82. Major intra-abdominal complications following extracorporeal shockwave lithotripsy (ESWL) in a patient with ehlers-danlos syndrome.A retroperitoneal bleeding is an unusual complication of extracorporeal shockwave lithotripsy (ESWL), which can be treated in a conservative way most of the time. However, an intra-abdominal bleeding after ESWL is extremely rare, which can cause life-threatening situations and requires an immediate intervention. Probably, only patients with a certain tissue fragility or connective tissue disorder are at risk to develop such an intra-abdominal bleeding. We present a case of a serious intra-abdominal bleeding due to a rupture of the vena mesenterica superior in an Ehlers-Danlos patient, evoked by an ESWL.- - - - - - - - - - ranking = 0.00054012438125229keywords = life (Clic here for more details about this article) |
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