Fowler-Christmas-Chapple syndrome is a micturition disorder often associated with polycystic ovaries and accompanied by urinary retention. Hormonal factors probably underlie the complex of symptoms, but so far this relationship has not been proven. No causal therapy is currently available.
What is Fowler-Christmas-Chapple syndrome?
Emptying the bladder is also called micturition. When micturition is associated with discomfort, it may be related to a condition called micturition dysfunction. Fowler-Christmas-Chapple syndrome falls into the disease group of micturition disorders. This is one of the most common causes of urinary retention. Nevertheless, the prevalence is reported to be less than one case in 1,000,000. The syndrome was first described by the British physician Clare J. Fowler at the end of the 20th century. In her honor, her name is included in the designation of the clinical picture. However, the symptom complex should not be confused with Fowler’s syndrome, which refers to a disease involving vascular changes in the brain. Fowler-Christmas-Chapple syndrome is sometimes referred to in English as Fowler’s syndrome, suggesting easy confusion with that of congenital brain disease. As a bladder emptying disorder, Fowler-Christmas-Chapple syndrome predominantly affects young women and is often associated with the so-called polycystic ovary syndrome.
Causes
In the case of Fowler-Christmas-Chapple syndrome, the cause of micturition dysfunction is a disorder of the bladder sphincter. How this disorder develops and what triggers it are as yet unknown. Cases have been described in 33 women, nearly half of whom also had polycystic ovaries. Because the complex of symptoms has so far so often been directly related to polycystic ovaries, scientists are calling for speculation. For example, it suggests that the stability of the muscle membrane is impaired in patients with the syndrome. This instability could explain the abnormal behavior of the bladder sphincter and, at the same time, the polycystic ovaries, if hormonal abnormalities are assumed to be primary factors in both symptoms. That hormonal abnormality causes the syndrome is also suggested in view of the average age of onset of the disease. Thus, the hormonal connection could explain why women well before menopause are primarily affected by the syndrome.
Symptoms, complaints, and signs
Fowler-Christmas-Chapple syndrome is characterized by a number of clinical symptoms, all of which are related to micturition. The most characteristic symptom of the syndrome is urinary retention. Affected patients also retain significantly more residual urine after micturition than average. An abnormal muscle activity of the bladder sphincter is noticed in the electromyogram. The affected patients do not suffer from any obvious anatomical abnormality or neurological disorder. In some cases, urinary tract infections occur more frequently in the form of complications due to urinary retention and residual urine. These infections are characterized by a burning sensation during urination. Patients with cystitis often think they have to urinate without any actual urge to micturate. If patients are also affected by polycystic ovaries, multiple cysts are also present in the ovaries. Such cysts can cause cycle changes and, if left untreated, may even cause infertility in the long term.
Diagnosis
To diagnose for Fowler-Christmas-Chapple syndrome, neurologic micturition disorders must first be ruled out. Differentially, increased bladder capacity greater than one liter in volume must also be ruled out. EMG is an irreplaceable tool for the diagnosis of the syndrome, as it can be used to detect the unusual activities of the bladder sphincter. The muscle group around the urinary tract usually shows the same abnormalities. The behavioral abnormalities of the muscles can be broadly summarized as unusual contractile behavior. In addition, if polycystic ovaries are present in addition to the micturition disorder, laboratory diagnostics may be performed.Elevated or borderline high testosterone, androstenedione, dehydroepiandrosterone sulfate, TSH, AMH, and prolactin are indicative of polycystic disease on laboratory diagnostic testing, as is an elevated LH/FSH quotient.
Complications
As a result of the voiding dysfunction, which in Fowler-Christmas-Chapple syndrome is caused by a dysfunction of the bladder sphincter, acute urinary tract infections are common. In addition, polycystic ovary syndrome may be present at the same time. This is the case in half of those affected. Hormonal disturbances may be the cause of Fowler-Christmas-Chapple syndrome as well as all the resulting sequelae. The cysts in the ovaries can lead to cycle changes as a consequence. This can result in infertility without treatment or surgical intervention. Urinary retention, which is typical of Fowler-Christmas-Chapple syndrome, leaves more residual urine in the bladder than usual. The resulting bladder infections become more frequent. The patient suffers from a constant urge to urinate. There may be burning and pulling when urinating. If an acute urinary tract infection is carried over in Fowler-Christmas-Chapple syndrome, the consequences can be dramatic. The protracted urinary tract infection draws attention to itself through blood in the urine or purulent discharge. In the worst case, the urinary tract infection becomes chronic. This can lead to bladder shrinkage and necrotic bladder tissue. Occasionally, spread of the infection to other female organs has been observed. Ascent of the pathogens may affect the kidneys. The possible consequence is renal abscesses. These in turn can lead to life-threatening blood poisoning. In most cases, such complications in Fowler-Christmas-Chapple syndrome are ruled out by close medical surveillance.
When should you see a doctor?
Because Fowler-Christmas-Chapple syndrome can only be treated symptomatically and there is no self-healing, a physician must be consulted in all cases. Affected individuals should seek medical attention for this condition whenever they experience unusual or disturbed urinary behavior. In this case, a large amount of residual urine may remain in the bladder, so that the affected person feels an urge to urinate again shortly after going to the toilet. Frequent infections of the urinary tract or bladder should also always be examined by a doctor in the case of Fowler-Christmas-Chapple syndrome. Burning during urination can also be a symptom of this disease. In women, a doctor should also be consulted if cysts form on the ovaries. Changes in the menstrual cycle or infertility may also indicate Fowler-Christmas-Chapple syndrome. In most cases, the examination and diagnosis of this syndrome takes place with a urologist. This urologist can usually also initiate treatment of the syndrome and limit the patient’s symptoms. However, it cannot be universally predicted whether this will result in a completely positive course of the disease.
Treatment and therapy
A causal treatment for Fowler-Christmas-Chapple syndrome does not yet exist, because the underlying causal relationship has not been conclusively determined. Symptomatic therapy of micturition dysfunction usually corresponds to either sacral neurostimulation or sacral neuromodulation. The latter route of therapy is associated with success rates of up to 70 percent. This association even holds true for women who have been experiencing symptoms for a long time. The therapy involves stimulating the nerves of the bladder sphincter muscle near the spinal cord. After symptoms are reduced by half, the stimulator can be implanted in the patients. This step is taken only after neuromodulation has proven helpful in individual cases. The therapy by far does not work in all cases and may involve surgery if implanted. However, other therapeutic approaches to Fowler-Christmas-Chapple syndrome have had far less success. This is true, for example, of hormonal manipulation or drug therapy. If the patient also suffers from polycystic ovaries, treatment of the micturition disorder must be accompanied by treatment of the polycystic ovaries.Measures to treat this symptom can range from prescribing an antiandrogenic birth control pill, dietary changes, and pulsatile administration of GnRH to surgical treatment, such as informing laparoscopic laser ovarian drilling.
Outlook and prognosis
The prognosis of Fowler-Christmas-Chapple syndrome must be considered on an individual basis. Some patients achieve recovery by seeking treatment and maintain a good prognosis. Others have to expect lifelong impairments despite all efforts. This is due to the fact that the cause of the disease has not yet been sufficiently clarified. In medical care, the focus is on alleviating the existing symptoms, since the cause cannot be combated. In the majority of patients, freedom from symptoms can be achieved. The sacral nerves are stimulated in their activity by electrical impulses. The stimulation results in the functional activity of the bladder and rectum being stimulated to a sufficient degree. Nevertheless, about thirty percent of those affected do not experience sufficient improvement in their health with this form of therapy. In addition, many patients experience a return of symptoms in the course of their lives. As an alternative, a surgical intervention offers the possibility of implantation. The operation is associated with the usual risks and side effects and also does not lead to recovery in many patients. Treatment with medication or hormones has little chance of success in direct comparison. The prognosis is unfavorable for both therapeutic approaches. Nevertheless, it should be evaluated on an individual basis, as some patients experience improvement in their health.
Prevention
Although hormonal causes are currently suspected as causative factors for Fowler-Christmas-Chapple syndrome, this speculation has not actually been confirmed to date. For this reason, no effective preventive measures are currently available.
Follow-up
The bladder voiding disorder called Fowler-Christmas-Chapple syndrome primarily affects young women. It is due to a disorder in the bladder’s sphincter muscle. What triggers this is not clear. Because Fowler-Christmas-Chapple syndrome often occurs along with polycystic ovary syndrome, postoperative follow-up may be required. Most often, however, follow-up is concerned with ensuring that there is no carryover of germs to the kidneys after acute urinary tract infections. However, the problem is that physicians do not know the exact cause of the disorder in the bladder sphincter. This makes preventive and follow-up care equally difficult. In addition, because this micturition disorder occurs relatively infrequently, there is not much interest in researching new treatments or follow-up options. Follow-up care is usually provided by the gynecologist in patients with additional polycystic ovary syndromes. In this circumstance, infertility is possible as a result of Fowler-Christmas-Chapple syndrome. Urologists, on the other hand, are responsible for the direct and indirect consequences of protracted urinary tract infections. The goal of follow-up care is to prevent the bladder tissue from necrotizing, the bladder from shrinking, or the obstructed urinary tract infection from becoming chronic. Follow-up is important in Fowler-Christmas-Chapple syndrome because, in some cases, kidney problems, sepsis, or infections of the female reproductive organs can occur as a result of infections that have spread or ascended. Close collaboration between urologists and gynecologists would be desirable in Fowler-Christmas-Chapple syndrome.
Here’s what you can do yourself
Fowler-Christmas-Chapple syndrome offers patients little opportunity for self-help. There is no spontaneous healing, so relief of symptoms can only be achieved in collaboration with a physician. What is helpful is mental reinforcement. The patient should understand that the urge to urinate and the failure to urinate are in no way signs of a psychological disorder or a consequence of psychosomatics. In many cases it is difficult to keep calm and reduce the stress experience. However, this is exactly what should take place. Composure in the face of the symptoms and an open approach to the complaints helps to reduce irritability and to experience inner relaxation. In addition, targeted procedures can be applied that contribute to a strengthening of mental power or a harmony of the emotional world. Long car or train rides should be avoided.For internal security, it is helpful if there is always an opportunity to urinate in the immediate vicinity. Nevertheless, participation in social life is important. The patient additionally harms his health if he no longer leaves his own home due to the disease. With an optimistic basic attitude as well as sufficient flexibility, a reorganization of everyday life can take place so that an exchange with friends and relatives can take place as usual.
