Emergency Situations
Most health concerns associated with Loeys-Dietz syndrome are managed through regular monitoring and medical care. However, certain complications can develop suddenly and require urgent medical attention.
Because LDS affects connective tissue throughout the body it is helpful for individuals with LDS, their families, and healthcare providers to be familiar with potential emergency situations.
These complications do not occur in everyone with LDS, and the level of risk varies from person to person and among genetic subtypes. Knowing that these emergency situations can occur helps individuals, families, and healthcare professionals recognize why appropriate surveillance and emergency preparedness are important.
Check out our Emergency Preparedness Kit and Emergency Alert Card to have on hand as a first source of information for First Responders.
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AORTIC or ARTERIAL DISSECTION is a potentially life threatening complication related to aortic aneurysm.
Symptoms of aortic dissection include sudden severe chest pain, migrating to the chest, neck, back, abdomen and/or an extremity. Some individuals with aortic dissection have reported nausea, vomiting, shortness of breath, and collapse.
Symptoms of aortic dissection warrant activation of the EMS (call 911), and transport to the nearest hospital for aortic IMAGING (CTA, MRA, echocardiography) to confirm or exclude dissection, for stabilization, and appropriate treatment.
Stroke symptoms may present with neck artery dissections.
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SPONTANEOUS PNEUMOTHORAX, sometimes called a collapsed lung, occurs when air enters the space between the lung and chest wall and causes part or all of the lung to collapse.
Symptoms of spontaneous pneumothorax include chest, neck or back pain exacerbated by deep breathing, or difficult breathing due to pain.
HEMOPTYSIS, or coughing up blood from the respiratory tract, has been reported in people with Loeys-Dietz syndrome. In some cases, the underlying cause may not be immediately apparent.
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A retinal detachment occurs when the retina, the light-sensitive tissue at the back of the eye, separates from the tissues that support it. Retinal detachment has been reported in people with Loeys-Dietz syndrome and requires prompt evaluation to help protect vision.
Retinal detachment is typically painless. A person may notice a sudden increase in floaters (spots, specks, strings, or cobweb-like shapes in the vision), flashes of light, or a shadow, curtain, or veil moving across part of the visual field. Peripheral vision may decrease, and vision can become blurred or reduced as the detachment progresses.
Sudden new flashes or floaters, loss of part of the visual field, or the appearance of a curtain or shadow over the vision should receive urgent ophthalmologic evaluation.
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Rarely, rupture or perforation of internal organs has been reported in people with Loeys-Dietz syndrome. This may be related to increased fragility of connective tissues that provide strength and support to the walls of internal organs.
Symptoms depend on the organ involved. Rupture or perforation involving the gastrointestinal tract may cause sudden or severe abdominal pain, abdominal tenderness or swelling, nausea or vomiting, fever, or a significant change in bowel symptoms. If internal bleeding occurs, a person may also experience weakness, dizziness, fainting, rapid heart rate, or feeling unusually pale or unwell.
Because these symptoms can have many different causes, they do not necessarily indicate an organ rupture. However, sudden or severe unexplained abdominal or pelvic symptoms in a person with LDS warrant prompt medical evaluation, particularly when accompanied by signs of internal bleeding or severe illness.
Hollow-organ rupture is considered an uncommon complication of LDS and should not be expected to occur in most people with the condition.
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Pregnancy and the postpartum period require special consideration in LDS because cardiovascular and connective tissues are exposed to additional physiologic stress.
Potential serious complications include aortic or arterial dissection and other vascular complications. Uterine rupture has also been reported, although it is uncommon.
Pregnancy-related risks vary considerably depending on an individual's genetic subtype, cardiovascular history, aortic dimensions, previous vascular surgery, and other medical factors. Pregnancy in LDS should therefore be managed with appropriate multidisciplinary care.