Acute first onset of Ehlers–Danlos Syndrome type 4 with spontaneous rupture of posterior tibial artery pseudoaneurysm

Abstract

Ehlers-Danlos syndrome type 4, the vascular type, is a rare, life-threatening inherited disorder of the connective tissue. Affected patients are at risk of arterial, bowel and uterine rupture during pregnancy. Generally, this syndrome remains undiagnosed until a sudden, acute presentation with organ rupture, and results in premature death, even if the patients survive the first and second major complications. An early diagnosis with genetic assays can help to plan the best treatment, which is often challenging due to the frailty of the arterial tissue. We report on a 28-year-old lady who presented with spontaneous rupture of a pseudoaneurysm of the posterior tibial artery.

Spontaneous pseudoaneurysm of the posterior tibial artery successfully treated by open surgery

“…But our patient did not meet the diagnostic criteria of Marfan syndrome, type-IV Ehlers-Danlos syndrome or any other connective tissue disorders. [ 4 ] Histological examination of intraluminal thrombus did not suggest any evidence of connective tissue disorders or other specific diseases.…”

“…[ 1 – 3 ] Infection and autoimmune diseases also can be the reasons. [ 4 ] A rare type of PSA is spontaneous which occurs in the absence of trauma and other causes. It can be a diagnostic dilemma and a possible cause of limb loss.…”

Brachial Artery Tear Occurring Concurrently with A Distal Biceps Injury Led to A Diagnosis of Ehlers-Danlos Syndrome Type IV

“…Peripheral arterial involvement as a major presenting problem has been reported in a number of patients with Ehlers-Danlos Syndrome type IV [7][8][9][10][11][12][13]. In one of the case reports, the peripheral arterial injury was the "tip off" that led to the diagnosis of EDS type IV [7].…”

“…In one of the case reports, the peripheral arterial injury was the "tip off" that led to the diagnosis of EDS type IV [7]. Prompt treatment of vascular injuries must be undertaken, as related complications including compartment syndrome and nerve palsies, and amputation for ischemic complications have been reported [8,11].…”

“…patients with this disorder have shown abnormal ultrastructural properties of collagen and elastin [2]. While type III EDS has been reported to be the most debilitating form with respect to musculoskeletal function, [3] type IV EDS, known as the vascular type, is considered overall the most serious type of EDS, and is associated with decreased median life expectancy (45 years to 50 years), mainly due the risk of spontaneous arterial or organ rupture [4][5][6][7][8][9][10][11][12][13][14]. Given that arterial rupture can occur repeatedly in patients with EDS, careful lifelong follow-up is necessary [14].…”