What is Heyde Syndrome?
Heyde syndrome is a condition that involves three main issues: aortic stenosis (or a narrowing of the heart’s aortic valve), gastrointestinal bleeding (bleeding in the stomach and intestines), and acquired von Willebrand Syndrome (a bleeding disorder). This combination of conditions was first identified by E.C. Heyde in 1958. He noticed that older patients with calcium build-up in their aortic valve, known as calcific aortic stenosis, had a greater chance of experiencing gastrointestinal bleeding. He wrote about these findings in a letter to the New England Journal of Medicine.
What Causes Heyde Syndrome?
Scientists think that Heyde syndrome, a specific set of symptoms, happens because of increased force and stress on blood circulation. This changes the natural formation and breakdown of large von Willebrand (VWF) multimers, which are proteins in the blood that help with clotting.
In Heyde syndrome, this increased stress is usually caused by narrowing of the aortic valve in the heart. However, similar changes can also occur due to other heart-related reasons that result in increased turbulence in blood flow. These can include hypertrophic cardiomyopathy (a condition where the heart muscle becomes abnormally thick), complications from a left ventricular assist device (LVAD, a type of heart pump), or severe mitral regurgitation (a condition when the heart’s mitral valve doesn’t close tightly, allowing blood to flow backward in the heart).
Risk Factors and Frequency for Heyde Syndrome
Heyde syndrome usually affects older people, often diagnosed in those over 65 years old. It’s not exactly known how many people have this condition because the key symptoms, which are gastrointestinal bleeding and aortic valve stenosis, are quite common especially in older age. As such, Heyde syndrome may be overlooked and underreported.
Aortic stenosis, a main part of Heyde syndrome, is found in about 7.5% of individuals who are 75 years old or older. Moreover, around 1.8% of people over the age of 75 have moderate to severe forms of this condition. One study found that about 1% to 3% of older patients with moderate to severe aortic stenosis also experienced significant gastrointestinal bleeding, another component of Heyde syndrome. Clinical research also found that between 20% and 70% of patients with aortic stenosis had a significant drop in certain types of blood clotting proteins, or VWF multimers. This drop was seen to be related to the severity of the aortic stenosis. Based on these findings, it is likely that Heyde syndrome is more common than what is currently reported in medical literature.
Signs and Symptoms of Heyde Syndrome
Heyde syndrome is a medical condition that can have some complex symptoms which may not be easily detectable. Some of these symptoms are grouped according their affect on different body systems. Therefore, it is crucial that doctors obtain a comprehensive medical history and physical examination of the patient. They should look for any instances of ongoing gastrointestinal bleeding, particularly if it’s from an unexplained source. A thorough review of any past symptoms or procedures linked to aortic stenosis (AS) is also important. If the patient has a moderate to severe AS, it’s more likely they also have von Willebrand Syndrome (AVWS), another sign of Heyde syndrome. Family medical history, especially factors linked to inherited disorders relating to coagulation, i.e., blood clotting, or cancer should be taken into account. Doctors also need to thoroughly assess the heart, gastrointestinal, and the blood system.
Present symptoms of Heyde syndrome can indicate its presence as:
- Aortic stenosis symptoms – such as chest pain, fainting, shortness of breath with physical activity, and tiredness
- Signs of gastrointestinal bleeding – such as bright red or black stool, blood vomiting, or again, tiredness
- Impaired coagulation (AVWS) signs – excessive tiredness, abnormal bruising
Physical examination can reveal more signs of Heyde syndrome as follows:
- Aortic stenosis signs – the presence of an early systolic ejection (a type of heart noise), weakened and delayed pulse, heartbeat felt more towards the side
- Signs of gastrointestinal bleeding – Abdominal pain during palpation, fresh or dried blood during rectal examination, abnormal drop in blood pressure
- Impaired coagulation (AVWS) signs – unusual bruising, blood in joints, gastrointestinal bleeding
Of course, in some patients, gastrointestinal bleeding might not be apparent at all or occur unknowingly. In these cases, the physical examination might reveal no abnormal signs. Therefore, the doctor should give special emphasis to the history, asking further questions if necessary. Certain details of history like a continuous feeling of tiredness, skin paling, cravings for non-food items (like clay, dirt etc. as seen in pica), or darkening of the stool could point to hidden bleeding and resulting anemia.
Testing for Heyde Syndrome
If an older person has or shows signs of a heart valve disease known as aortic valve stenosis, bleeding in the digestive tract, or signs of AVWS (a blood disorder), they might have Heyde syndrome. To make sure, doctors will first test for serious conditions. If these are ruled out, they’ll then do more tests to confirm if it’s Heyde syndrome.
Doctors will likely do several lab tests. This might include a complete blood count (CBC) to look at the different cells in your blood, a coagulation panel to check how your blood clots, a metabolic panel to measure various chemicals in your blood, and a fecal occult blood test to detect blood in your stool. They’ll also consider doing an electrocardiogram and an echocardiogram, tests that check the rhythm and structure of your heart. Sometimes, the doctor might recommend an endoscopy or a CT scan for your digestive system, or a chest X-ray or CT scan for your heart and lungs, based on your symptoms and physical examination.
If aortic valve stenosis and gastrointestinal bleeding are confirmed, doctors may direct their focus to assessing the functioning of a blood-clotting protein called VWF, particularly if the patient has gastrointestinal angiodysplasia (abnormal blood vessels in the digestive tract) that isn’t responding to endoscopy.
There are a couple of specific laboratory tests for this condition: the Platelet Function Assay (PFA) and the VWF Multimer Assay. The PFA evaluates how your blood platelets form clots, while the VWF Multimer Assay sorts different sizes of the VWF protein based on size to see how much of a certain type (high molecular weight multimers) is present in your blood.
The PFA takes less time to complete compared to the VWF Multimer Assay (a few hours versus 7-10 days). Therefore, it’s usually the first test done. If your PFA test is abnormal, your doctor will then confirm the diagnosis with the VWF Multimer Assay test.
Treatment Options for Heyde Syndrome
Currently, there are no specific guidelines or established procedures for the treatment of Heyde syndrome. Therefore, the treatment should be based on existing guidelines related to aortic stenosis, gastrointestinal bleeding, and von Willebrand syndrome (AVWS).
Aortic valve replacement, a procedure that replaces the heart’s aortic valve with a mechanical or biological one, is often recommended as the first line of treatment for Heyde syndrome. This procedure has shown to be very effective in stopping repeated gastrointestinal bleeding, which is a common symptom of Heyde syndrome. Transcatheter Aortic Valve Replacement (TAVR), a type of aortic valve replacement procedure that is less invasive than traditional open-heart surgery, is often preferred over Surgical Aortic Valve Replacement (SAVR) because it has fewer risks after surgery.
Due to the lack of enough information, the use of blood thinning medication after the aortic valve replacement needs to be decided on a case-by-case basis. This decision usually involves input from a cardiologist, gastroenterologist, and sometimes a cardiovascular surgeon. Typically, most patients with Heyde syndrome receive a course of medication that helps prevent blood clots for several months after the valve replacement, as per standard valve replacement guidelines.
The evaluation and management of suspected gastrointestinal bleeding in Heyde syndrome are similar to handling other gastrointestinal conditions. The first step is to rule out any serious, immediate threat of bleeding, which could include unstable blood pressure or signs of shock. If there’s evidence of severe bleeding, doctors would first focus on stabilizing the patient before proceeding with further procedures. Once the patient is stable, doctors would then seek to identify the source of the bleeding. In Heyde syndrome, the bleeding often comes from the small intestine. Advanced imaging techniques may be required to locate the source.
Typical treatments for inherited von Willebrand disease, such as von Willebrand factor (VWF) or factor VIII replacement, octreotide, and desmopressin, are usually not effective for managing Heyde syndrome. Any improvements are often short-lived and do not address the main cause of the condition. As such, these therapies are not usually recommended for Heyde syndrome.
In summary, if a patient is suspected of having or is confirmed to have Heyde syndrome, the recommended approach is for a gastroenterologist and cardiologist to consider aortic valve replacement. If a patient’s condition is unstable, emergency medical care should be given before any further procedures like endoscopy or surgery. Additionally, any anemia should be treated with blood transfusions, as per current guidelines.
What else can Heyde Syndrome be?
If a patient shows signs of aortic stenosis (a narrowing of the aortic valve in the heart), gastrointestinal bleeding, and indications of a medical condition called AVWS, doctors might suspect a condition known as Heyde syndrome. However, these symptoms can also indicate many other medical conditions, so it’s important to consider all possibilities.
There are plenty of conditions where patients might show a few, but not all, of the symptoms necessary for a diagnosis of Heyde syndrome. These could include:
- Stomach bleeding not caused by a valve disease, possibly from a peptic ulcer, diverticular disease, or gastrointestinal cancer.
- A heart valve disease even if there’s no stomach bleeding, like aortic stenosis or sclerosis, or calcification.
- Disorders that mess up how your blood clots, like haemophilia, VWF deficiency, thrombocytopenia, or other clotting factor disorders. Both conditions you’re born with (inherited) and those that are acquired should be thought about here.
Aortic stenosis and gastrointestinal angiodysplasia (abnormal blood vessels in the digestive tract) are found often, especially in older patients. Because of this, it’s possible that these two conditions might show up together by coincidence, without any disorders of VWF-related blood clotting. If these conditions are found in a patient, further testing and examination will be needed by the doctors.
What to expect with Heyde Syndrome
The outlook is generally very promising for individuals who undergo aortic valve replacement, a procedure that can effectively solve their heart-related issues. Heyde syndrome patients who do not get their aortic valves replaced typically have a less optimistic prognosis. Their condition can be worsened by repeat episodes of gastrointestinal bleeding, leading to poorer outcomes overall.
Possible Complications When Diagnosed with Heyde Syndrome
The primary complication of Heyde syndrome is recurring bleeding in the digestive tract, which can be potentially fatal. Sometimes, there might be bleeding from other areas as well, but it’s less common.
Key Complications:
- Recurring bleeding in the digestive tract
- Possible life-threatening situations
- Less common bleeding from other areas
Preventing Heyde Syndrome
If you are diagnosed with Heyde syndrome, your doctor will explain the condition and what it means for your health. The best way to treat Heyde syndrome is through a type of surgery called aortic valve replacement. Other treatments like endoscopic treatment (a type of internal examination using a tube-like instrument) for stomach and intestinal issues, and blood products to address anemia or blood clotting disorders, can help but usually only provide temporary relief.
Your doctor will explain to you that aortic valve replacement surgery is the main recommended treatment and can often cure most cases of Heyde syndrome. Some complications of Heyde syndrome can be dangerous and need immediate medical attention. Your doctor will guide you about the signs of these complications which can include chest pain, fainting (syncope), or repeated bleeding in your stomach or intestine. Stay alert for these symptoms and reach out for help immediately if they occur.
