Is Ehlers-Danlos Syndrome Fatal?

Yes, EDS may sometimes be fatal, especially the Ehlers-Danlos syndromes (EDS) type IV, also known as the vascular type of Ehlers-Danlos. It is a hereditary connective tissue condition defined by severe arterial and digestive problems that are only rarely found in the other types of Ehlers-Danlos syndromes (EDS). In addition to vascular and digestive ruptures, patients with EDS type IV are at risk for perforations of the gravid uterus. Patients with EDS type IV have characteristic facial features and premature aging of the limb extremities (acrogeria), and they are predisposed to perforations of the gravid uterus. Arterial ruptures cause most fatalities, but digestive perforations, mainly on the sigmoid colon, are less common causes of death. Although these problems are uncommon in children, 25 percent of patients suffer before 20 and 80 percent by 40. According to current estimates, the median age of death is 50 years. Because of the differences in clinical symptoms, natural history, and prognosis, EDS type IV should be evaluated independently from the other types of EDS in the EDS group.

Type IV Ehlers-Danlos syndrome (EDS) is the most severe type of the condition. A significant artery (e.g., the splenic artery) or the perforation of internal organs can cause a patient’s life to be cut short, significantly reducing a patient’s lifetime. Surgery can offer a life-threatening danger to people with this condition. Among the most prevalent consequences are arterial aneurysms, valve prolapse, and spontaneous pneumothorax. The rupture of a major vessel, most often an abdominal or splenic vessel, or the perforation or perforation of a visceral organ can result in sudden death.

The other kinds are typically not as hazardous, and those affected can have a normal, albeit somewhat restricted, life despite their condition. Type VI is also potentially dangerous, even though it is quite rare.

Epidemiology

These syndromes are a collection of inherited connective tissue illnesses with a frequency estimated to be between 1/10,000 or 1/25,000, and there is no evidence of an ethnic propensity to develop them. A total of six clinical kinds are identified under the Villefranche classification, with the vascular EDS accounting for around 5 to 10% of all occurrences.

Clinical Presentation

Vascular Ehlers-Danlos syndrome is diagnosed clinically using four criteria: a distinctive facial aspect (acrogeria) in most patients, thin and translucent skin with apparent subcutaneous vessels, ecchymoses, and hematomas, as well as arterial, digestive, and obstetrical complications.

  1. Dysmorphic features on the face

Acrogeria is characterized by distinctive facial characteristics such as an emaciated face with prominent cheekbones and sunken cheeks when it is present. The eyes seem recessed or protruding, and there is typically coloration surrounding them as well as thin telangiectasia on the upper and lower eyelids. A pinched and narrow nose and thin and undefined lips, particularly the upper lip, are all features of this look. In addition, a non-acrogeric version of the illness may arise, with the clinical diagnosis of which is more difficult due to the absence of numerous identifying characteristics.

  1. Symptoms of the skin

Skin that is unusually thin and pale is characteristic of vascular EDS. It has a smooth, soft, and velvety feel to it. The veins beneath the skin are visible on the thorax, shoulders, and, in some instances, the belly because the skin is transparent on these areas. Acrogeria is a term used to describe the premature aging of the skin on the extremities, as well as the prominent appearance of subcutaneous veins. During a clinical examination, we have recently discovered that anteflexion of the trunk exposes prominent subcutaneous veins on the lower back that are incredibly apparent. Our experience has shown that this symptom is quite helpful in establishing the clinical diagnosis of a patient.

However, in contrast to classical EDS (types I and II) and hypermobile EDS (types III and IV), there is no hyperelasticity of the skin in EDS type IV (type III). Occasionally, skin fragility is detected, albeit this is less common than in typical EDS. As a result, wounds have an abnormally extended healing time due to the scarring process. Scars that have grown in size and deposits of leftover haemosiderin are both common occurrences.

  1. Ecchymoses and Hematomas

Ecchymoses and hematomas are prevalent in Ehlers-Danlos syndromes, and severe bruising is one of the most important diagnostic criteria in the Villefranche nosology of the disease.

  1. Complications

Patients with vascular EDS are at risk for problems such as arterial, digestive, and obstetrical issues.

  • Vascular Complications

The correct nature of the vascular lesions has been debated in the literature, but most of them have been determined to be arterial dissections or tears caused by the deterioration of congenitally thin and fragile tissue, resulting in hematomas, false aneurysms, or intracavitary bleeding. Even while a small number of individuals have true fusiform aneurysms, most aneurysms reported in the literature are likely ‘fake aneurysms.’ In part, this is since arterial ruptures or dissections are unanticipated and, in part, because the fragility of artery walls often makes surgical restoration difficult.

All anatomical regions can be affected, with a predilection for big and medium caliber arteries in particular. In most cases, this illness affects the proximal branches of the aortic arch and the distal branches of the descending thoracic artery and the abdominal aorta. It is also particularly detrimental to the distal branches of the aorta, which include the renal, mesenteric, iliac, and femoral arteries, among others.

It has been well established that dissections of the vertebral and carotid arteries in their extracranial and intracranial portions are a common consequence of the condition. Carotid-cavernous fistulae (CCF) are another common consequence of EDS type IV, which occurs due to decreased collagen III in the artery walls. The presence of tinnitus, thrill, headaches, and pulsing exophthalmos is required for a clinical diagnosis of CCF to be made.

EDS type IV should be considered following every ischemic stroke in a young patient, regardless of the cause. In addition, intracranial hemorrhages are detected in 4% of cases, with half of these being caused by the rupture of an intracranial aneurysm that has already been diagnosed. This appears to be a greater prevalence than found in the general population, where the incidence of unruptured aneurysms is believed to be between 0.5 and 1 percent of the population. Early detection of brain hemorrhage in individuals with EDS type IV is critical since it has significant consequences for treating the patient and their family members and caregivers. The use of non-invasive methods (echo-Doppler, angioscan, and angio-MRI) in patients with a confirmed vascular EDS diagnosis is essential to identify arterial dissections or aneurysms in these individuals. As a result of the high risk of problems associated with puncture and rupture of the artery wall, arteriograms are not recommended in most cases. Any invasive diagnostic technique should be carefully considered regarding the benefit/risk ratio, with arteriograms being reserved solely for instances in which arterial embolization is contemplated. Anticoagulation may be necessary if thrombosis arises following carotid or vertebral dissection, although this should be done with caution. Since the tissue’s fragile nature in these individuals, surgical treatment of brain aneurysms is associated with a high threat of morbidity and death. Additionally, endovascular radiology therapies are associated with a significant rate of post-treatment morbidity and death.

Despite the low incidence of cerebrovascular consequences, individuals with EDS type IV should nonetheless undergo thorough brain aneurysm screening since the risks associated with surgery sometimes make operation contraindicated before the onset of symptoms in these patients.

There’s some debate over the efficacy of routine vascular examinations on an ongoing basis. Many specialists advise against them because of the worry that patients may experience due to the finding of aneurysmal lesions (for which a treatment choice would be made only in rare cases). The use of an ultrasound scan of the supra-aortic arteries and arterial axis of the lower limbs and a thoracic-abdominal scan with carefully administered low-pressure injection are all recommended by several experts annually or yearly. Identifying a previously unidentified big or quickly growing aneurysm necessitates continuous monitoring of the patient’s condition. Even though hemorrhages or rips of the anastomoses sometimes complicate post-operative therapies, scheduled surgery for a fortuitously discovered vascular lesion that threatens the critical prognosis is suitable in the absence of an emergency.

  • Complications of the digestive system

Most perforations occur in the sigmoid colon; however, the small intestine might be damaged occasionally. Spontaneous ruptures of the spleen and liver have also been reported in the medical literature. In the case of a simple segmental resection with rapid re-establishment of continuity, there is a significant risk (50 percent) of numerous colonic perforations and leaking from the anastomosis, which should be avoided. Consequently, partial colectomy with colostomy is the preferred therapy, followed by secondary re-establishment of continuity if necessary. Alternatively, despite the patients’ young age, complete colectomy with ileostomy and closure of the rectal stump or ileo-rectal anastomosis may be recommended because of the danger of recurrent colonic perforations and the scarcity of perforations of the small intestine in this population. On the anastomosis, there is a big chance of leaking occurring.

According to current estimates, mortality due to digestive perforations in individuals suffering from vascular EDS is relatively rare (about 2 percent), which is lower than specific reports of isolated clinical instances may suggest.

  • Obstetrical problems

Among women with EDS type IV, pregnancy can raise the chance of a uterine or vascular rupture by as much as 50 percent (particularly during the last three months). The rate of maternal mortality is around 12 percent. The most dangerous time is during labor, delivery, and the early post-partum period after giving birth. Pregnancy-related uterine hemorrhages are common throughout the postpartum period, and they are often only treated by hysterectomy. A randomized controlled research has not yet been conducted to determine the benefit of a cesarean section performed before the beginning of labor (to reduce the risks associated with contractions and maintain better hemostasis management). It has been suggested that desmopressin be used as a preventative measure to manage primary hemostasis.

  • Complications of the pleura and lungs

There have been reports of pneumothoraces, hemoptysis, and hemorrhagic cavitary lesions of the pulmonary parenchyma occurring in several individuals with EDS type IV.

  • Prolapse of the mitral valve

Patients with EDS type IV have been found to have an increased incidence of mitral valve prolapse (MVP). The fact that this is true with many hereditary connective tissue diseases and that the precise frequency of MVP in the general population is unclear should be considered.

Management and Treatment

Symptomatic therapy, preventive measures, and genetic counseling should be the primary focus of medical intervention without a particular treatment for EDS type IV. People suffering from Ehlers-Danlos syndrome should be advised to carry with them a letter or a card describing the nature of their illness, the vascular or digestive complications to which they are susceptible, their blood group, and the contact information for their doctor. It is not recommended to appoint in strenuous physical activity, scuba diving, or violent sports. Disrupting platelet function or coagulation is caused by various medicines such as acetylsalicylic acid, clopidogrel, or antivitamin K drugs. These medications should be avoided whenever possible.

The consequences of arterial, intestinal, or uterine disease necessitate immediate hospitalization, surveillance in an intensive care unit, and occasionally surgery. Arteriograms and endoscopies are, in theory, contraindicated in this situation. A conservative approach is typically the best course of action when treating a vascular problem in a patient with EDS type IV. Whenever the critical prognosis is not at stake, therapeutic abstinence with thorough monitoring is better than unnecessary surgery in most situations.

On the other hand, surgical intervention may be necessary immediately in the case of potentially deadly consequences such as uncontrolled hemorrhage or a big or quickly growing aneurysm. Before commencing surgery, the surgeon should be informed about the diagnosis to increase the likelihood of a successful outcome. Tissue handling should be gentle and non-traumatic as part of surgical measures. Surgery must be performed in a manner that is the least complicated and most straightforward as feasible. In situations where the arterial ligature is not likely to impair the blood flow to an organ, it is an ideal choice. In rare instances, simple artery repairs have been performed successfully. Serious arterial problems need the use of prosthetic materials for arterial repair. Anastomoses should not be performed under strain but instead using Teflon pledgets to provide additional strength. Despite these measures, many patients experience post-operative hemorrhagic complications and difficulties involving the anastomosis of the prosthetic graft. At this time, there is inadequate information on the use of stents to treat vascular problems associated with EDS type IV. The danger of artery rupture when the puncture site is located far away from the puncture site is significant. It is critical that the post-operative monitoring is extended in all situations and that the post-operative tests using non-invasive imaging techniques (scanners) be performed again as soon as possible. To avoid further complications, individuals suffering from EDS type IV mustn’t be offered unnecessary surgical procedures, such as varicose vein stripping.

Pregnant women who have vascular EDS should be considered at risk and should get extra attention throughout pregnancy.

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