Medical & Surgical Management

 

Medical Management

The majority of medical management in vascular Ehlers-Danlos Syndrome has focused on maintaining blood pressure in the normal or low-normal range(1). A 'normal' blood pressure is 120/80 mmHg(2).  Your physician may have different goals for a low-normal blood pressure. It will depend on your physician preference and if you are having any symptoms from your blood pressure ("BP") or your BP medication (excessive fatigue, dizziness, etc.). This is a conversation to have with your treating physician.

Multiple medications have been used in vEDS to decrease blood pressure(1). This includes beta-blockers, angiotensin blockers and other antihypertensive agents (1). Which medication is used will often depend on the knowledge and experience of the physician prescribing them (1). The only medication which has been studied in a randomized clinical trial in vEDS is celiprolol. This drug is a beta-blocker commonly used in Europe and the United Kingdom for vEDS patients. It is not FDA approved in the United States but there is a pharmaceutical company named Acer Therapeutics trying to obtain FDA approval. Please visit our celiprolol drug therapy page for more information on the drug.

Medical Management Approaches to Discuss with you Physician:

1) Discuss a goal blood pressure and blood pressure management with your primary care doctor. Many recommended that patients with vEDS should make their goal blood pressure to either be 'normal' or 'low-normal'(1).

2) Avoid 'surges' in blood pressure(1): These cause added stress on your blood vessels, which is what we are trying to avoid. Things that cause surges in your blood pressure include certain physical forms of exercise and heavy weight lifting. If you are having to hold your breath and strain to do an activity (lifting up a heavy object for example) then, in general, this is probably an activity you should consider avoiding.

3)  When starting a new blood pressure medicine: make a 'blood pressure diary' at home. Take your blood pressure several times per day and write down the numbers. Do this for several weeks and bring it with you to your next doctors appointment. If you were having symptoms at certain times (dizziness for example) take and record your blood pressure and note that you felt dizzy at that time. Your physician can then look at this and it will be very helpful in terms of changing your medicine (increasing or decreasing your dose)!

Note: All treatments should be tailored to you as an individual patient and your specific medical issues. Discuss with your treating doctors to make decisions regarding your individual care. 

Sources:

1. Byers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, Johnson D, Pepin MG, Robert L, Sanders L, Wheeldon N.  2017.  Diagnosis, natural history and management in vascular Ehlers-Danlos syndrome.  American Journal of Medical Genetics Part C (Seminars in Medical Genetics). 175C:40-47.

2. American Heart Association: blood pressure guidelines

Surgical Management: How are gastrointestinal issues managed?

The most common gastrointestinal issue in vEDS is spontaneous rupture of the large intestine. In particular, it is most commonly the sigmoid colon (1). Symptoms of a large bowel rupture can include rapid onset of continuous, unremitting, abdominal pain. The location of the rupture will effect where the pain presents. For example, ruptures of the sigmoid colon often present with pain in the left lower abdomen (referred to as the 'left lower quadrant' in medicine). The colon is a portion of the large bowel, and the sigmoid colon is a specific segment of the colon.

The treatment for a large bowel rupture in vEDS is the same as it would be for patients in the general population (2). This is with the obvious exception that surgeons will need to take extra care given a patient's history of vascular EDS. Treatment typically involves the creation of a colostomy (2). A colostomy is essentially a re-routing of the GI tract. The surgeon will take the healthy bowel (above where the rupture is) and attach this colon to an opening which they create at the abdominal wall. By doing this, the damaged bowel is bypassed. Liquid stool is re-routed to follow this pathway out of the body. It is collected in a colostomy bag which is worn by the patient and emptied as needed. In the future, a second surgery can be performed to 'reverse' the colostomy-- the bowels are reattached so that they follow the normal pathway and you no longer have a colostomy. 

Other gastrointestinal (GI) issues are less common. The GI system includes the entire pathway of food as it enters until it exits the body (the esophagus --> attaches to the stomach --> attaches to the small bowel --> attaches to the large bowel--> attaches to the rectum and anus). Ruptures of the esophagus and stomach have been reported in vascular Ehlers-Danlos Syndrome but they are not nearly as common (1,3). Issues with the small bowel, such as rupture, are less common as well(2). One final complication which can be seen after abdominal surgery in vascular EDS patients is fistula formation (2). Fistulas are abnormal connections between two parts of the body. For example, two parts of the bowel which should be separate but now have a communication (or opening) between them. This can lead to food passing through the body faster than it is supposed to, not allowing enough time for proper absorption of different nutrients(2). If these issues do arise, they can be managed with surgery and removal of this part of the small bowel(2).

1.  Pepin MG, Schwarz U, Rice KM, Liu M, Leistritz D, Byers PH. 2014.  Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). Genet Med 16:881-888.

2. Byers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, Johnson D, Pepin MG, Robert L, Sanders L, Wheeldon N.  2017.  Diagnosis, natural history and management in vascular Ehlers-Danlos syndrome.  American Journal of Medical Genetics Part C (Seminars in Medical Genetics). 175C:40-47.

3 . Reis ED, Martinet OD, Mosimann F.  1998. Spontaneous rupture of the oesophagus in an adolescent with type IV Ehlers-Danlos syndrome. Ehlers-Danlos and spontaneous oesophageal rupture. Eur J Surg 164: 313-316

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