Heyde Syndrome: Causes, Symptoms, Treatment, Pathophysiology, Prognosis, Epidemiology

A large number of blood vessels are found within the digestive tract of the human body. Heyde Syndrome is a condition characterised by abnormal behaviour of these blood vessels leading to bleeding within the intestines. These vascular abnormalities are either congenital in nature or are associated with underlying systemic disorders such as Heyde Syndrome. The risk of developing abnormalities with the blood vessel increases with ageing and in the presence of other cardiovascular disorders.

Heyde Syndrome is a rare condition characterised by a triad of aortic stenosis, acquired coagulopathy and anaemia secondary to gastrointestinal bleeding leading to angiodysplasia i.e vascular malformation in the gut. It was discovered by Dr. Edward C. Heyde in the year 1958 and was thereafter named after him. The exact etiology of Heyde Syndrome is still unclear; however, the most accepted theory states that it is caused by the abnormal activity of Von Willebrand factor while crossing the stenotic valve, which in turn increases the risk of intestinal bleeding.

Von Willebrand factor (vWF) is a blood glycoprotein that aids in blood clotting and blood coagulation. vWF deficiency or dysfunction increases the risk of bleeding, predominantly in areas with high blood flow.

Heyde Syndrome is primarily characterised by gastrointestinal bleeding. This presents itself as:

• Melena: Maroon coloured stool or tarry blood stained stool.
• Hematemesis: Vomiting out blood.
• Haematochezia: Fresh blood discharge with stool.
• Abdominal discomfort.

Heyde Syndrome is closely associated with anaemia. Chronic loss of blood over a period of time can lead to paleness, fatigue, lack of energy and constant feeling of exhaustion. The above mentioned symptoms in addition to presence of aortic stenosis refer to Heyde Syndrome.

Heyde Syndrome is a rare condition noticed among 3% of the population with aortic stenosis. Heyde Syndrome is more common among the elderly population than the younger age group, as the occurrence of aortic stenosis and angiodysplasia increases with age.

The prognosis of Heyde Syndrome is generally bright and good. If detected early the symptoms of Heyde Syndrome can be reversed. Once the underlying cause of bleeding is detected, the bleeding can be controlled. In most of the cases, the symptoms of Heyde Syndrome have completely resolved with aortic valve replacement. However, if left untreated, Heyde Syndrome can lead to life-threatening situation in view of excessive bleeding.

The exact correlation between aortic stenosis and gastric tract bleeding has still not been confirmed. A large number of studies have been carried out and it was proposed that Heyde Syndrome is possibly caused by mild form of Von Willebrand disease leading to coagulation abnormalities. It has been noticed that coagulation abnormality improved with aortic valve replacement. A study carried out by Vincentelli et. al. proclaims that this coagulation abnormality is caused by abnormal breakdown of vVF molecule by the enzyme called ADAMTS13 in view of excessive stress around the aortic valve. This hinders blood coagulation in the gastrointestinal tract leading to abnormal bleeding.

The complications of Heyde Syndrome include:

• Hemodynamic Instability: It is a condition characterised by unsteady blood pressure in view of insufficient blood flow to the organs. In severe cases, pharmacologic or mechanical support may be needed to maintain the cardiac output.
• Chronic blood loss
• Gastrointestinal lesions
• Iron deficiency anaemia.

The presence of underlying aortic stenosis can compromise the cardiac output which can lead to life-threatening situation in anaemic patients.

The risk of Heyde Syndrome increases with aging and is seen as having close relation with traditional cardiovascular risk factors.

The first step in diagnosis of Heyde Syndrome would be obtaining a thorough case history of the patient. All underlying disorders have to be noted. Faecal occult test generally appears positive. A physical examination is not sufficient for correct diagnosis. The following investigative studies are carried for early detection and management:

• Colonoscopy to Diagnose Heyde Syndrome: Gastrointestinal bleeding is commonly diagnosed through a screening colonoscopy. However, in certain cases, it may be missed and further investigations are done for rightful diagnosis.
• Endoscopy: An upper and a lower gastrointestinal tract endoscopy may be considered for detection of bleeding spots.
• Angiography for Diagnosing Heyde Syndrome: Angiography of the vasculature of the colon can help in determining the location of gastrointestinal bleeding.
• Echocardiography: An ultrasound study of the heart called echocardiography is done to determine theoretic valve stenosis.
• Other Screening Tests to Diagnose Heyde Syndrome: A number of screening tests such as partial thromboplastin time, prothrombin time, ristocetin cofactor activity, activated factor VIII coagulant activity, and concentration of vWF antigen is done. In advanced cases, dynamic platelet function analysis is done for accurate diagnosis.

• Blood Transfusion: Recurrent blood transfusion can be considered for replenishing the lost blood and for providing symptomatic treatment for Heyde Syndrome.
• DDAVP: Desmopressin is used in moderate cases of Von Willebrand Diseases.
• Other Treatment Modalities: E.g. Oestrogen therapy.
• Valve Replacement to Treat Heyde Syndrome: It has been noted that the coagulation disorder improves with aortic valve replacement.
• Treating Heyde Syndrome with Cauterization: In some cases, localization of the bleeding points with cauterization can be considered. However, the risk of recurrence is high with cauterization.

Heyde’s disease is a very rare condition associated with gastrointestinal bleeding, coagulation disorder, aortic stenosis and anaemia. It generally affects the older population with underlying cardiac issues. From pathophysiological stand point it is caused by abnormal functioning of the Von Willebrand factor which causes coagulation dysfunction. This in turn causes gastrointestinal lesions and excessive bleeding from the gastrointestinal tract. Clinical features are associated with blood in stools, dark coloured stool, blood stained vomit and anaemia. If left untreated it can lead to chronic blood loss and even death.

Heyde Syndrome is a relatively rare condition and a lot of it is still unknown. A large number of studies are being carried out to determine the exact cause of the condition. It is a reversible condition, if diagnosed at the right time. Aortic valve replacement has proved to be successful in providing complete stability and at present is the most common choice of treatment.

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