VASCULAR EHLERS-DANLOS SYNDROME (VEDS)

Vascular EDS, formerly known as EDS Type IV, is a rare condition, found in 1 in 6.500 persons. It is more serious than Joint Hypermobility Syndrome (JHS) (also known as Ehlers-Danlos Syndrome type III – EDS-III ), thus it is necessary to make an early diagnosis, since it could be associated to cardiovascular problems and even ruptured organs, such as lungs, colon and gravid uterus. Due to capillary fragility, easy and frequent bruises appear, sometimes without apparent causes. Among other vascular problems, besides the Mitral Valve Prolapse, more serious conditions such as cerebral aneurysms and arterial ruptures are observed. In most cases VEDS diagnosis is made after a serious complication. In some cases there has been a rupture of a mesenteric or splenic artery during pregnancy, without injuries.

Knowing the diagnosis of VEDS before the appearance of a serious complication can save the patient's life. If one of these patients has cases of severe headaches, it is necessary to rule out a cerebral aneurysm, which if not treated can even be fatal. In this type of EDS, joints are usually not hypermobile, except for the hypermobility of the fingers. Since they have fragility of most tissues, they may have other complications such as spinal problems, varicose veins, hernias, scoliosis, flat foot, and a tendency to osteoarthritis and osteoporosis at an early age. They may also have Dysautonomia (chronic fatigue, dizziness and fainting), which gives them a poor quality of life. In addition to the vascular problems, as described above, these patients are characterized by: thin and transparent skin (veins can be seen). Sometimes these patients may have the typical VEDS facial appearance: triangular faces, sunken eyes, thin upper lips and a lack of adipose tissue of the face. They may suffer the rupture of tendons, ligaments and muscles, early varicose veins, spontaneous pneumothorax, and recession of the gums. For the diagnosis, it is important to know if there is a family history of arterial complications or ruptured organs and even sudden death of a family member under age 30, without apparent causes. When you have diagnosed VEDS to a patient, you must search for other cases in the family, to prevent serious complications.

Another complication described in the Ehlers-Danlos Syndrome, is the Congenital Chiari Malformations, which is a congenital malformation at the junction of the base of the skull with the first and second cervical vertebrae, which can cause compression of the spinal cord. Due to small posterior cerebral fossa the cerebellum is compressed and the tonsils herniated down, causing symptoms, as the liquid of the central nervous system is interrupted. This produces a pain that starts in the occipital region and radiates to the top of the head.

A further complication described in the Ehlers-Danlos Syndrome is the Fibromuscular Displasia, which consist of a vascular complication, usually diagnosed in young patients with hypertension caused by an obstruction of the renal artery. Indeed, it can affect any other artery, for example, the subclavian or humeral artery, causing a decrease or absence of pulse and blood pressure in the extremity. This can be confused with Takayasu’s Arteritis.