Bladder, Bowel and Other Organ Involvement
Some leukodystrophies can affect bladder and bowel movements by damaging nerves which transmit signals to these areas. This can be painful, inconvenient and embarrassing, but these symptoms are not uncommon and there are treatments available. Continence and Toileting services can provide support to manage these symptoms, and you can also talk to your GP. Many leukodystrophies will have symptoms relating to both the bowel and bladder, or double incontinence. This can also be called combined incontinence, or urinary and faecal incontinence, and is more severe and debilitating than either of the individual conditions.
Bladder
Urinary incontinence is unintentional passing of urine. There are several common types of this:
- Stress incontinence – bladder leaking when under pressure, such as when you cough or laugh
- Urge incontinence – bladder leaking with or shortly after a sudden urge to urinate, sometimes called urgency or micturition urgency
- Overflow incontinence – frequent bladder leaking caused by an inability to fully empty the bladder, also called chronic urinary retention
- Total incontinence – bladder is unable to store any urine, causing constant or frequent leaking
Those with this condition should talk to their GP or continence service, who may suggest products such as incontinence pads and handheld urinals. There are a range of treatments available to tackle incontinence, with even the least invasive of these able to help those whose incontinence is caused by a leukodystrophy. These methods range from changing behaviour to try to train the bladder, to pelvic floor exercises to increase muscle strength. Changes to diet and lifestyle, such as reducing caffeine and alcohol or losing weight, can also ease incontinence issues.
Electrical stimulation can be used to stimulate and strengthen pelvic floor muscles, reducing stress and urge incontinence when repeated over several months. Women with these issues can opt for insertion of medical devices, either a urethral insert or pessary, to reduce symptoms. If these methods are ineffective, medication can be taken to relax bladder muscles and reduce symptoms – talk to your GP, continence service or a urologist about appropriate medication available. Botox injections into the bladder are an example of a suggested treatment if these other methods have not been successful and ultimately there are a number of surgical options for severe and persistent problems.
Bowel
Bowel incontinence, or faecal incontinence, is an inability to control bowel movements, leading to unexpected leakage of faeces. This can be accompanied by diarrhoea, constipation and gas and bloating. It can also lead to skin irritation, causing pain, itching and potentially to painful ulcers. It is therefore important to seek treatment before this happens.
Treatments for bowel incontinence are very similar to those for bladder incontinence, from incontinence pads to bowel training and nerve stimulation. A GP or continence service will be able to help with this. Increasing exercise, drinking more fluids and eating more high-fibre foods can also help. As with urinary incontinence, surgery is available for those with a severe and persistent problem not helped by other methods. In some cases, the bowel is made redundant by the introduction of a colostomy bag to collect stools.
Other Organ Involvement
The term for an enlarged liver is hepatomegaly, an enlarged spleen is called splenomegaly, and enlargement of both is known as hepatosplenomegaly. Visceromegaly is a general term for enlargement of the organs in the abdomen. Organ enlargement is caused by build up of protein, fat or other substances due to the underlying leukodystrophy.
Organ enlargement does not necessarily cause symptoms. When liver enlargement is a result of liver disease, symptoms can include brown urine, clay-coloured stools, a swollen or painful abdomen (belly), nausea and vomiting, fever, fatigue, itching and a yellowish (jaundiced) colour to the skin and eyes.
Leukodystrophies that may cause organs to enlarge are Alpha-Mannosidosis; Aicardi-Goutieres Syndrome; Cockayne Syndrome; D-Bifunctional Protein Deficiency; Fucosidosis; 3-Methylglutaconic aciduria type 1; Peroxisomal Acyl CoA Oxidase deficiency; Peroxisome Biogenesis Disorders; Sialic acid storage disorders.
Enlarged Organs
The term for an enlarged liver is hepatomegaly, an enlarged spleen is called splenomegaly, and enlargement of both is known as hepatosplenomegaly. Visceromegaly is a general term for enlargement of the organs in the abdomen. Organ enlargement is caused by build up of protein, fat or other substances due to the underlying leukodystrophy.
Organ enlargement does not necessarily cause symptoms. When liver enlargement is a result of liver disease, symptoms can include brown urine, clay-coloured stools, a swollen or painful abdomen (belly), nausea and vomiting, fever, fatigue, itching and a yellowish (jaundiced) colour to the skin and eyes.
Leukodystrophies that may cause organs to enlarge are
D-Bifunctional Protein Deficiency
3-Methylglutaconic aciduria type 1
Peroxisomal Acyl CoA Oxidase deficiency