Hyde syndrome describes acquired stenosis of the aortic valve associated with angiodysplasias of the gastrointestinal tract. Prominent are colon acendens (ascending colon) and caecums (appendix). They may present with gastrointestinal bleeding, leading to anemia (anemia).
What is Hyde syndrome?
This condition is named after its discoverer, US internist Edward C. Hyde, who first described this syndrome in 1958. Atherosclerotic processes in the heart valves cause this acquired stenosis of the aortic valve. The shear forces (flow velocity) in the blood stream in the area of the narrowed heart valve destroy the Von Willebrand factor. This factor is the medical term for a glycoprotein that is responsible for two important functions in hemostasis. It initiates platelet adhesion and platelet activation (primary blood clotting) and protects factor VIII (anti-hemophilic globulin A as a component of blood clotting) from protein degradation (proteolysis). This impaired blood clotting causes Willebrand-Jürgens syndrome in the next step, which can cause a tendency to extensive hematomas, excessive bleeding after injuries and surgical procedures, increased bleeding tendency, prolonged and increased menstrual bleeding (menorrhagia (long and heavy menstrual bleeding)), and joint bleeding (hemarthros). This condition belongs to the field of vascular medicine, vizeral medicine, geriatrics, and cardiac surgery.
Causes
Simply explained, it is acquired aortic valve stenosis combined with bleeding from the ascending colon caused by malformed blood vessels (angiodysplasia). The relationship between these two clinical pictures, which are caused by calcification or degeneration of the aortic valve and bleeding from the colon, has not yet been conclusively clarified medically. Aortic valve stenosis results in left ventricular hypertrophy (tissue enlargement of the myocardium of the left ventricle). Seizure-like dyspnea (shortness of breath), syncope (circulatory collapse), and angina pectoris (chest tightness, thoracic pain, cardinal symptom of coronary artery disease) occur. Bleeding in the gastrointestinal tract (gastrointestinal) may be occult (hidden) or may be visible accompanying bowel movements (hematochezia). In the presence of angiodysplasia of the stomach, melena (abnormally black-colored blood) and hematemesis may occur.
Symptoms, complaints, and signs
Repeatedly, other physicians besides Hyde have pointed out the importance of clinical findings and an accurate history of these complicated pathomechanisms, as the causes of this syndrome have not been conclusively determined. Both Hyde in 1958 and his colleagues in subsequent decades repeatedly noted that they were treating patients with aortic valve stenosis who were simultaneously suffering from massive gastrointestinal bleeding. Physicians took a step further when they discovered that gastrointestinal angiodysplasias (vascular malformations) were the cause of these bleedings, and that they no longer occurred after aortic valve replacement. In the late 1980s, two medical research groups were able to demonstrate that multimers of von Willebrand factor are reduced in acquired and congenital stenoses of the aortic valve. The von Willebrand factor is an amino acid-protein monomer that acts as a subunit leading to the concatenation (polymerization, demerization) of two molecules. This subunit multimerizes in blood plasma to form a large molecular complex. This is important for proper hemostasis (hemostasis). Many patients with aortic valve stenosis have a decreased number of high molecular weight multimers. This condition occurs in combination with decreased platelet (thrombocyte) adhesion and aggregation and improves with aortic valve replacement. The path to a definite diagnosis involves an echocardiographic examination (sonography – ultrasound of the heart) and performance of a colonoscopy (colonoscopy) to identify vascular malformations.
Diagnosis and disease progression
The large multimers usually appear in coiled molecular form in the blood plasma.If increased shear forces develop in the area of high-grade stenosis of the aortic valve, this condition causes a conformational change. A specific area becomes accessible to the plasma protease ADAMTS13, which cuts the multimeric molecule. Hemostasis is an important process for stopping bleeding caused by vascular injury. When this hemostasis is disrupted, bleeding occurs from angiodysplasias (vascular malformations) of the intestinal mucosa. The blood vessels are anatomically altered by this damage, allowing greater shear forces (flow conditions).
Complications
Due to Hyde syndrome, in many cases the patient suffers from internal bleeding and thus may also suffer from anemia. Due to the disease on the heart, it is not uncommon that the patient may also suffer from heart problems, in which the patient may die in the worst case. Sudden cardiac death can also occur without any warning signs or symptoms. Many patients experience anxiety or panic attacks as a result of Hyde syndrome, as this sudden death could occur unexpectedly. As a rule, many sufferers also suffer from depression and other psychological upsets due to the syndrome. Therefore, it is not uncommon for physical activities to be severely restricted, which further promotes the development of the syndrome. As a rule, Hyde’s syndrome can be treated with the help of blood transfusions. However, the patient must still be examined for bleeding in the small intestine. There are no complications in this case. If Hyde’s syndrome is not treated, heart failure develops after about five years, and patients eventually die. This reduces life expectancy enormously.
When should you see a doctor?
A visit to the doctor is necessary as soon as repeated bleeding during toilet use becomes apparent. Blood in the stool is considered a warning sign of the organism. Black-colored stool or blood on the feces, should be examined more closely by a doctor. Caution is also advised in the case of bloody vomiting. If there is no short-term physical strain as the cause, a physician should be told of the observations so that the cause can be determined. A feeling of pressure in the upper body or tightness in the chest are considered unusual. If the discomfort persists for several days or weeks, a physician should be consulted. If shortness of breath occurs or there are interruptions in breathing, a doctor should be consulted as soon as possible. In case of disturbances of consciousness or unconsciousness, an emergency doctor should be called. Until the emergency physician arrives, first aid measures must be taken to ensure the survival of the affected person. Since Hyde’s syndrome threatens the premature death of the patient, a quick visit to a doctor is life-saving. Control examinations in case of complaints of cardiac activity or the feeling of malaise, dizziness or a general weakness are advisable. If the complaints lead to further psychological impairment, therapy is recommended. A physician should therefore be consulted in the case of depressive phases, anxiety disorders or behavioral problems.
Treatment and therapy
After heart valve replacement, the tendency to bleed is regressed. Other therapeutic options include blood transfusions, application of factor III and desmopressin (antiduiretics – synthetic substance to reduce urinary excretion), partial resection of the colon (partial removal of the longest part of the colon). If angiodysplasia is suspected in the small intestine, intraoperative enteroscopy (endoscopic examination) with diaphanoscopy (fluoroscopy of parts of the body using a light source placed on top) proves useful to visualize and treat corresponding lesions. In many patients, aortic valve stenosis is initially asymptomatic because they have a low peak systolic pressure gradient, which makes it difficult to make a finding regarding any concomitant bleeding in the colon in the setting of Hyde syndrome. This condition therefore requires regular follow-up examinations. The average survival rate of untreated patients with angina pectoris is about five years, four years after development of syncope (circulatory collapse) and three years in the case of heart failure. With replacement of the aortic valve, not only heart symptoms disappear, but also gastrointestinal bleeding in the gastrointestinal tract.
Outlook and prognosis
Without adequate medical care, the prognosis of Hyde syndrome is unfavorable.The patient experiences a decrease in resilience, anemia and a significant loss of quality of life. It is difficult to cope with everyday life and many activities cannot be performed. In severe cases, there is also a risk of premature death. If the congenital disorder is treated medically, the goals of therapy are to regulate blood flow and alleviate any symptoms that arise. In a surgical procedure, a heart valve replacement is performed. The operation is associated with the usual risks and side effects. If no complications occur, the patient’s prognosis improves. Blood transfusions are used to regulate the amount of blood needed until normal heart activity is established. Although good treatment results in improved health, complete freedom from symptoms does not occur. Physical performance is reduced for the rest of the patient’s life. In addition, regular control examinations must be carried out in order to document changes and to be able to react immediately in case of abnormalities. The practice of high-performance sports or intensive physical activities should generally be avoided. For a good prognosis, attention should also be paid to emotional irregularities. Persistent psychological stress can trigger health problems at any time and contribute to a worsening of the condition.
Prevention
Prevention in the clinical sense is not possible because there is no event or parameter with predictive probability. Because aortic valve stenosis falls within the scope of heart disease, a healthy lifestyle with adequate exercise can have a positive effect on the whole organism. Elderly people who are no longer physically active should do soft sports such as Nordic walking, as walking has a positive effect on blood circulation and thus on the orderly flow of blood. Patients who have been diagnosed with an increased pressure gradient across the aortic valve should limit their physical activity until surgery to avoid sudden cardiac death.
Follow-up
In Hyde syndrome, very few measures or direct options for follow-up are available to the affected individual. Also, because it is a congenital disease, there may be no complete cure or self-healing. If the affected person wishes to have children, genetic counseling can also be performed to prevent the recurrence of the syndrome. The treatment of this disease is usually done by taking various medications. Care must always be taken to ensure that the medication is taken correctly and in the correct dosage. In case of any uncertainties or questions, a doctor should always be consulted first. Since Hyde’s syndrome can also have a negative effect on the internal organs, regular examinations of the internal organs should also be carried out, paying particular attention to the heart. In the worst case, this can result in heart failure if left untreated, which can lead to death. A healthy lifestyle with a healthy diet can also alleviate the symptoms of Hyde’s syndrome and prevent further complications. In many cases, exercise can also have a positive effect on the course of the disease. However, Hyde syndrome may possibly reduce the life expectancy of the affected person.
What you can do yourself
Unfortunately, there are no particular self-help options available to the affected person with Hyde syndrome. In any case, treatment by a physician is necessary for this syndrome to prevent further complications or the premature death of the affected person. If the patient already loses consciousness due to Hyde’s syndrome and suffers from heart failure or circulatory disorders, an emergency physician must be called immediately or the hospital must be visited directly. A doctor should also be consulted immediately in case of a bloody bowel movement. Furthermore, due to heart failure, the affected person must not engage in strenuous sports or activities in order not to strain the heart unnecessarily. A healthy lifestyle with a healthy diet also has a positive effect on the course of the disease. The person affected should also avoid alcohol and nicotine. However, light sports that are not particularly demanding on the circulation can be performed.To avoid sudden cardiac death, patients with Hyde syndrome should see a doctor regularly and have examinations performed. For any psychological symptoms, discussions with other affected individuals or with friends and acquaintances are often appropriate.
