Unusual Vascular Conditions
The vascular specialists at The Mount Sinai Hospital are specially trained in the diagnosis and management of patients with rare and unusual vascular diseases. We recognize that each patient is unique, and we work with each patient to tailor their care and therapy as appropriate.
Disease Affecting Limb Arteries
Decreased blood flow to the legs causes symptoms of claudication (fatigue, pain with activity that goes away with rest). Although cholesterol plaque in the arteries (atherosclerosis) is the most common cause, there are other conditions that should be considered, especially in patients without risk factors for cardiovascular disease, such as diabetes, high cholesterol, high blood pressure. These conditions include:
- Cystic adventitial disease (CAD) is due to an abnormal formation of a cyst in the artery wall causing a stenosis. The cause is unknown. Generally, the popliteal artery at the level of the knee is involved, although the arteries in the thigh (femoral, iliac) and arm (radial, ulnar) have been described. Discomfort in the affected limb generally lingers with cessation of the offending activity. There is no consensus on treatment of CAD; aspiration and/or surgery to remove the cyst are possible options.
- Endofibrosis of the iliac artery is a condition that affects high functioning athletes. The iliac artery begins at the division point of the aorta (the main artery of the body that arises from the heart and travels through the chest into the abdomen) at the level of the belly button. The right and left iliac arteries supply areas of the pelvis, buttock, and leg. Repeated activity, such as cycling, may cause damage to the artery over time leading to the development of scar tissue and narrowing (stenosis). This may cause claudication, numbness, or leg swelling with activity. Treatment involves minimally invasive procedures to open the artery from the inside with a balloon and placement of mesh tube (stent).
- Popliteal artery entrapment syndrome (PAES) is caused by an anatomic anomaly at the level of the popliteal artery behind the knee. The surrounding muscles or ligaments compress and block blood flow with activity. Repeated activity over time causes damage and scarring, leading to stenosis or occlusion (blockage) if not identified early. Patients typically develop symptoms in early or mid-adulthood. Although the anatomy is present since birth, scar tissue and stenosis take years to develop. Treatment involves surgery to relieve the compression by the aberrant muscles.
For all patients with claudication, evaluation should include an ankle-brachial index (ABI), which compares the arm and leg circulation. In addition, testing should be performed before and after exercise, including with imaging by ultrasound (non-invasive sonogram), computed tomography (CT), or magnetic resonance angiography (MRA) (contrast injection with three-dimensional imaging). Catheter-based angiography may also be necessary. This involves placement of a catheter in the groin arteries that allows for testing from inside the artery and minimally invasive procedures to correct the defect with balloon or placement of a stent if appropriate.
Connective Tissue Disease
A number of inherited connective tissue disorders can cause vascular complications. All patients with these disorders should be managed by a vascular specialist.
- Ehlers-Danlos syndrome (EDS) may affect the skin, joints, and blood vessels. EDS Type IV results from a mutation of the COL3A1 gene that affects collagen. The result is weakened, curvy arteries that are prone to tearing (dissection) and aneurysm formation, which can result in rupture of the artery. There may be translucent skin with easy bruising, characteristic facial features, and a higher risk of intestine and uterus perforation. The diagnosis combines clinical signs and genetic testing for COL3A1. Treatment is focused at symptom management and surveillance imaging.
- Loeys Dietz syndrome (LDS) results from a mutation in the transforming growth factor beta gene 1 and 2 (TGFBR1, TGFBR2,) which affects all arteries. The three major diagnostic signs include widely spaced eyes (hypertelorism), cleft palate, or a bifid uvula. Patients also often have velvety, translucent skin prone to bruising and flexible joints. Diagnosis combines clinical features and genetic testing. Dissection occurs at smaller artery size than other conditions, and early surgery may be necessary to prevent complications.
- Marfan syndrome (MFS) results from a mutation in the fibrillin-1 (FBN1) gene causing weakness and disorder in the elastic structure of artery walls, skeletal system, and eyes. It may be familial or random. Diagnosis is made based on the Ghent criteria, which combine clinical and genetic findings. Typically, patients are overly flexible, tall with abnormally long arms/legs, and may experience dislocation of the ocular lens in the eye, heart valve issues, and dilation (aneurysm) or tearing (dissection) of the aorta.
Familial thoracic aortic aneurysm and dissection research has revealed several other gene mutations that may be responsible for a dissection of the aorta in the chest. A vascular specialist can help decide if genetic testing for these genes is appropriate.
People with connective tissue disease require regular imaging with CT or MR angiography, and in some cases echocardiography, to monitor for stability of disease or progression. Many patients may require eventual surgery. Often, diagnosis occurs with a life-threatening event (e.g., dissection). Genetic counseling should be offered to all patients, and specific medications (angiotensin receptor blockers) may reduce the risk of complications. Medical therapy to reduce artery stress and blood pressure is paramount. A vascular specialist can help organize and manage your care plan.
Other Unusual Vascular Conditions
Additional rare vascular conditions that are not classified as diseases affecting limb arteries or connective tissue diseases include:
- Klippel-Trenaunay syndrome (KT) is a non-genetic condition that affects blood vessel, soft tissue, and bone development. The characteristic features include a port-wine stain (purple-red, flat birth mark); abnormal bone or tissue growth, resulting in a larger than normal limb or trunk; and vein malformations causing large varicose veins. Complications include blood clots, skin infection, limb swelling, or internal bleeding from abnormal blood vessels. Treatment involves compression socks to reduce swelling, medications, or small surgical procedures to eliminate the veins if needed.
- Pseudoxanthoma elasticum (PXE) is an inherited disorder due to a mutation of the ABCC6 gene causing calcium deposits in the skin, eyes, and blood vessels. Clinical signs include small, yellow flat bumps on the skin (typically neck, arm pit, groin) and loss of elasticity (sagging skin). Early recognition is crucial because patients are at risk for vision loss (secondary to retinal bleeding) and early heart and vascular disease (due to artery calcification). It is important to note that some typical heart medications are contraindicated in this population due to a higher rate of bleeding in the gastrointestinal system. All patients with PXE should be followed be a vascular and eye specialist for long-term care.
Division of Vascular and Endovascular Surgery
Vascular Interventions – Cardiac Cath Lab
1190 Fifth Avenue, 1st Floor
New York, NY 10029