Heyde's syndrome
Encyclopedia
Heyde's syndrome is a syndrome
of aortic valve stenosis
associated with gastrointestinal bleeding
from colon
ic angiodysplasia
. It is named after Dr. Edward C. Heyde, who first described the association in 1958. It is due to the induction of von Willebrand disease
type IIA by the valvular stenosis.
(vomiting blood), melena
(tarry stool from altered blood) or hematochezia
(fresh blood in stool). These symptoms usually lead to endoscopy
of the upper and/or lower digestive tract (gastroscopy
or colonoscopy
). If this shows angiodysplasia
, and the patient is known to have aortic stenosis, the combination is referred to as "Heyde's syndrome". It is not necessary for the aortic stenosis to lead to any other symptoms, but evidence of heart failure, syncope
or chest pain
may be present if the stenosis is severe.
are not necessarily positive, as the abnormality is subtle. Platelet function analysis (with ADP closure time) or von Willebrand factor
electrophoresis identifies reduction of ULVWF (ultra-large von Willebrand factor).
A 2003 study showed how the subtle form of von Willebrand disease
present in Heyde syndrome patients resolved rapidly after aortic valve replacement
of the stenosed aortic valve. The coagulation
abnormality, the study poses, is possibly caused by the increased breakdown of the very large von Willebrand factor
molecule by its natural catabolic
enzyme (named ADAMTS13
) under conditions of high shear stress
around the valve.
s. Desmopressin
(DDAVP) releases Factor VIII
storage pools and is used in mild to moderate cases of von Willebrand disease
.
Vincentelli et al. argue that severe forms of Heyde's syndrome might be sufficient reason for aortic valve replacement, even if the stenosis is otherwise clinically unimportant and is not likely to cause complications.
patients who had also undergone echocardiograms, the prevalence of aortic stenosis was 31% (as opposed to 14% in the control group).
. He reported ten patients with the association. A letter appearing shortly after confirmed an odds ratio
of almost 3.0 between the two diseases.
Syndrome
In medicine and psychology, a syndrome is the association of several clinically recognizable features, signs , symptoms , phenomena or characteristics that often occur together, so that the presence of one or more features alerts the physician to the possible presence of the others...
of aortic valve stenosis
Aortic valve stenosis
Aortic valve stenosis is a disease of the heart valves in which the opening of the aortic valve is narrowed. The aortic valve is the valve between the left ventricle of the heart and the aorta, which is the largest artery in the body and carries the entire output of blood.-Pathophysiology:The...
associated with gastrointestinal bleeding
Gastrointestinal bleeding
Gastrointestinal bleeding or gastrointestinal hemorrhage describes every form of hemorrhage in the gastrointestinal tract, from the pharynx to the rectum. It has diverse causes, and a medical history, as well as physical examination, generally distinguishes between the main forms...
from colon
Colon (anatomy)
The colon is the last part of the digestive system in most vertebrates; it extracts water and salt from solid wastes before they are eliminated from the body, and is the site in which flora-aided fermentation of unabsorbed material occurs. Unlike the small intestine, the colon does not play a...
ic angiodysplasia
Angiodysplasia
In medicine , angiodysplasia is a small vascular malformation of the gut. It is a common cause of otherwise unexplained gastrointestinal bleeding and anemia. Lesions are often multiple, and frequently involve the cecum or ascending colon, although they can occur at other places...
. It is named after Dr. Edward C. Heyde, who first described the association in 1958. It is due to the induction of von Willebrand disease
Von Willebrand disease
von Willebrand disease is the most common hereditary coagulation abnormality described in humans, although it can also be acquired as a result of other medical conditions. It arises from a qualitative or quantitative deficiency of von Willebrand factor , a multimeric protein that is required for...
type IIA by the valvular stenosis.
Signs and symptoms
Gastrointestinal hemorrhage may present as hematemesisHematemesis
Hematemesis or haematemesis is the vomiting of blood. The source is generally the upper gastrointestinal tract. Patients can easily confuse it with hemoptysis , although the latter is more common.-Signs:...
(vomiting blood), melena
Melena
In medicine, melena or melaena refers to the black, "tarry" feces that are associated with gastrointestinal hemorrhage. The black color is caused by oxidation of the iron in hemoglobin during its passage through the ileum and colon.-Melena vs...
(tarry stool from altered blood) or hematochezia
Hematochezia
Hematochezia is the passage of fresh blood per anus, usually in or with stools . Hematochezia is commonly associated with lower gastrointestinal bleeding, but may also occur from a brisk upper GI bleed...
(fresh blood in stool). These symptoms usually lead to endoscopy
Endoscopy
Endoscopy means looking inside and typically refers to looking inside the body for medical reasons using an endoscope , an instrument used to examine the interior of a hollow organ or cavity of the body. Unlike most other medical imaging devices, endoscopes are inserted directly into the organ...
of the upper and/or lower digestive tract (gastroscopy
Esophagogastroduodenoscopy
For other expansions of the initialism "OGD", see the disambiguation page.In medicine , esophagogastroduodenoscopy is a diagnostic endoscopic procedure that visualizes the upper part of the gastrointestinal tract up to the duodenum...
or colonoscopy
Colonoscopy
Colonoscopy is the endoscopic examination of the large bowel and the distal part of the small bowel with a CCD camera or a fiber optic camera on a flexible tube passed through the anus. It may provide a visual diagnosis and grants the opportunity for biopsy or removal of suspected...
). If this shows angiodysplasia
Angiodysplasia
In medicine , angiodysplasia is a small vascular malformation of the gut. It is a common cause of otherwise unexplained gastrointestinal bleeding and anemia. Lesions are often multiple, and frequently involve the cecum or ascending colon, although they can occur at other places...
, and the patient is known to have aortic stenosis, the combination is referred to as "Heyde's syndrome". It is not necessary for the aortic stenosis to lead to any other symptoms, but evidence of heart failure, syncope
Syncope (medicine)
Syncope , the medical term for fainting, is precisely defined as a transient loss of consciousness and postural tone characterized by rapid onset, short duration, and spontaneous recovery due to global cerebral hypoperfusion that most often results from hypotension.Many forms of syncope are...
or chest pain
Chest pain
Chest pain may be a symptom of a number of serious conditions and is generally considered a medical emergency. Even though it may be determined that the pain is non-cardiac in origin, this is often a diagnosis of exclusion made after ruling out more serious causes of the pain.-Differential...
may be present if the stenosis is severe.
Diagnosis
The tests normally performed for Von Willebrand diseaseVon Willebrand disease
von Willebrand disease is the most common hereditary coagulation abnormality described in humans, although it can also be acquired as a result of other medical conditions. It arises from a qualitative or quantitative deficiency of von Willebrand factor , a multimeric protein that is required for...
are not necessarily positive, as the abnormality is subtle. Platelet function analysis (with ADP closure time) or von Willebrand factor
Von Willebrand factor
von Willebrand factor is a blood glycoprotein involved in hemostasis. It is deficient or defective in von Willebrand disease and is involved in a large number of other diseases, including thrombotic thrombocytopenic purpura, Heyde's syndrome, and possibly hemolytic-uremic syndrome...
electrophoresis identifies reduction of ULVWF (ultra-large von Willebrand factor).
Pathophysiology
In the 45 years following its initial description, no plausible explanations could be found for the association between aortic valve stenosis and gastrointestinal bleeding. Indeed, the association itself was questioned by a number of researchers. A number of reports stressed, however, that replacement of the diseased aortic valve often led to resolution of the coagulopathy.A 2003 study showed how the subtle form of von Willebrand disease
Von Willebrand disease
von Willebrand disease is the most common hereditary coagulation abnormality described in humans, although it can also be acquired as a result of other medical conditions. It arises from a qualitative or quantitative deficiency of von Willebrand factor , a multimeric protein that is required for...
present in Heyde syndrome patients resolved rapidly after aortic valve replacement
Aortic valve replacement
Aortic valve replacement is a cardiac surgery procedure in which a patient's failing aortic valve is replaced with an alternate healthy valve. The aortic valve can be affected by a range of diseases; the valve can either become leaky or partially blocked...
of the stenosed aortic valve. The coagulation
Coagulation
Coagulation is a complex process by which blood forms clots. It is an important part of hemostasis, the cessation of blood loss from a damaged vessel, wherein a damaged blood vessel wall is covered by a platelet and fibrin-containing clot to stop bleeding and begin repair of the damaged vessel...
abnormality, the study poses, is possibly caused by the increased breakdown of the very large von Willebrand factor
Von Willebrand factor
von Willebrand factor is a blood glycoprotein involved in hemostasis. It is deficient or defective in von Willebrand disease and is involved in a large number of other diseases, including thrombotic thrombocytopenic purpura, Heyde's syndrome, and possibly hemolytic-uremic syndrome...
molecule by its natural catabolic
Catabolism
Catabolism is the set of metabolic pathways that break down molecules into smaller units and release energy. In catabolism, large molecules such as polysaccharides, lipids, nucleic acids and proteins are broken down into smaller units such as monosaccharides, fatty acids, nucleotides, and amino...
enzyme (named ADAMTS13
ADAMTS13
ADAMTS13 —also known as von Willebrand factor-cleaving protease —is a zinc-containing metalloprotease enzyme that cleaves von Willebrand factor , a large protein involved in blood clotting...
) under conditions of high shear stress
Shear stress
A shear stress, denoted \tau\, , is defined as the component of stress coplanar with a material cross section. Shear stress arises from the force vector component parallel to the cross section...
around the valve.
Therapy
Symptomatic treatment can be given in the form of blood transfusionBlood transfusion
Blood transfusion is the process of receiving blood products into one's circulation intravenously. Transfusions are used in a variety of medical conditions to replace lost components of the blood...
s. Desmopressin
Desmopressin
Desmopressin is a synthetic replacement for vasopressin, the hormone that reduces urine production. It may be taken nasally, intravenously, or as a tablet...
(DDAVP) releases Factor VIII
Factor VIII
Factor VIII is an essential blood clotting factor also known as anti-hemophilic factor . In humans, Factor VIII is encoded by the F8 gene...
storage pools and is used in mild to moderate cases of von Willebrand disease
Von Willebrand disease
von Willebrand disease is the most common hereditary coagulation abnormality described in humans, although it can also be acquired as a result of other medical conditions. It arises from a qualitative or quantitative deficiency of von Willebrand factor , a multimeric protein that is required for...
.
Vincentelli et al. argue that severe forms of Heyde's syndrome might be sufficient reason for aortic valve replacement, even if the stenosis is otherwise clinically unimportant and is not likely to cause complications.
Epidemiology
The exact prevalence of the syndrome is unknown. A 2003 study found that of 73 angiodysplasiaAngiodysplasia
In medicine , angiodysplasia is a small vascular malformation of the gut. It is a common cause of otherwise unexplained gastrointestinal bleeding and anemia. Lesions are often multiple, and frequently involve the cecum or ascending colon, although they can occur at other places...
patients who had also undergone echocardiograms, the prevalence of aortic stenosis was 31% (as opposed to 14% in the control group).
History
The syndrome was originally described in 1958 by Dr Edward C. Heyde, an internist living and working in Vancouver, WA in a letter to the New England Journal of MedicineNew England Journal of Medicine
The New England Journal of Medicine is an English-language peer-reviewed medical journal published by the Massachusetts Medical Society. It describes itself as the oldest continuously published medical journal in the world.-History:...
. He reported ten patients with the association. A letter appearing shortly after confirmed an odds ratio
Odds ratio
The odds ratio is a measure of effect size, describing the strength of association or non-independence between two binary data values. It is used as a descriptive statistic, and plays an important role in logistic regression...
of almost 3.0 between the two diseases.