UNDERSTANDING HYPERMOBILE EHLERS-DANLOS SYNDROME & HYPERMOBILITY SPECTRUM DISORDER
Edited excerpts from the book Understanding Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder, by Claire Smith
IMPORTANT NOTE: Please note that these edited excerpts, which are made visible for May Awareness Month, are displayed for personal information/education purposes only. No permission for use of any sort or purpose (including reproduction, distribution or onward sale) is given. All other text, graphics, images and content contained within this edited excerpt and the book entitled Understanding hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder, from which they are taken, remains the copyright of the author (Claire Smith via Redcliff-House Publications) and all rights are reserved.
The excerpts below are taken from:
Chapter 2, part 2 - Area Specific Symptoms,
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Male Urinary Tract Dysfunction, page 110
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Urogynaecological symptoms, pages 105 - 109.
Excerpt 1 - Male Urinary Tract Dysfunction
According to Peter Cuckow, Consultant Urologist, the most common EDS related problem seen in male urology is bladder diverticulum, probably resulting from an anomaly of the bladder wall.
Bladder diverticulum
In an article for EDS Support UK, Mr Cuckow explains: ‘The pressure inside the bladder remains low while it is filling but rises significantly when urine is passed. It is probable that this rise in pressure stretches the bladder wall in susceptible individuals and causes the diverticulum to form.’ Cases have been seen in several subtypes including the hypermobile and classical types. One explanation for the complete absence of bladder diverticula in female patients is the significantly higher voiding pressures generated by male bladders (1).
Urinary tract disorders
As is the case with females, it is unclear whether those with hEDS/HSD are more susceptible to urinary tract disorders than the general population although some studies show a modestly increased risk (2). Dysfunction of the urinary tract covers disorders such as:
Frequency - the need to urinate frequently.
Urgency - the need to urinate urgently, sometimes urine leaks before you have time to get to the toilet. It is usually due to an overactive bladder.
Dysuria - painful or difficult urination
Nocturia - the need to wake and pass urine at night.
Urinary incontinence - defined as the involuntary loss of urine as a result of more pressure in the bladder than in the sphincter.
Voiding symptoms - this can be due to nerve dysfunction, non-relaxing pelvic floor muscles or both. Voiding dysfunction is also classified as being caused by under-activity of the bladder. Symptoms include: difficulty emptying the bladder such as slow or weak urine stream, urinary hesitancy, dribbling of urine, and overflow incontinence (due to chronic urinary retention).
Urinary tract Infections: were reported more frequently in boys with hypermobility, compared to controls (3.,4.,5).
Treatment
Doctors may need to modify advice they give on treatments such as fluid intake and surgery, to take into account problems that tend to arise in the hypermobility syndromes (2., 1.) . Although instances are very rare, the possibility of bladder diverticular should always be considered during the diagnosis process for urinary infection / blood in the urine in males. Surgery to remove the diverticulum should be reserved for those cases in which symptoms are severe and poorly controlled with medication or in whom kidney function is threatened (1., 6.).
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Excerpt 2 - Urogynaecological symptoms
‘As with the general female population, those with hEDS/HSD most commonly develop incontinence and pelvic floor disorders after childbirth; however, those with hEDS/HSD often develop them earlier or after fewer births (1). In the hEDS/HSD community, urinary incontinence has also been found at increased frequency in females who have never given birth (known as the nulliparous female) (2 & 3). In the general population, urinary stress incontinence is invariably the consequence of pelvic floor trauma following childbirth so, in the general population, it is exceedingly unusual in the woman who has not given birth, and should be regarded as a clue that may suggest a diagnosis of hEDS/HSD (4).
Malcolm John Dickson, Consultant Obstetrician & Gynaecologist, from Rochdale Infirmary agrees, stating: ‘In recent years we have encountered several nulliparous women with urinary stress incontinence. They were referred for a geneticist's opinion, and all of these nulliparous women with urinary stress incontinence were found to have joint hypermobility syndrome [now known as hypermobility spectrum disorder] or Ehlers-Danlos syndrome. These women were all young when they presented to the urogynaecology clinic. We hope that by early identification of their joint hypermobility syndrome, appropriate advice and physiotherapy may delay, or possibly prevent, the development of pain and disability that can develop in people with joint hypermobility syndrome.’ If a nulliparous female is found to have stress incontinence, the physician should inquire about collagen function and joint flexibility; questions such as these may reveal signs that can lead to expedited management for patients with previously unrecognised joint problems’ (3).
According to Mastoroudes et al (2013), doctors spend an insignificant amount of time asking those with hEDS/HSD about (uro)gynaecological issues. They state that ‘under-diagnosis of these issues may be, in part, due to patient-underreporting of their symptoms to their physicians and, in part, to a failure by general practitioners and rheumatologists to routinely screen for these symptoms.’ Careful attention should be paid to this subject and women should be routinely questioned regarding incontinence and other issues such as genital prolapse, endometriosis, and dyspareunia (5).
First we will look at urinary tract dysfunction:
Urinary tract dysfunction
The lower urinary tract includes the bladder and urethra, and allows for storage and timely expulsion of urine. . Hakim (6) states: ‘In both male urology and female urology, it is currently unclear whether bladder symptoms are more common in those with hypermobility than in the general population’. However, loosely knit collagen fibres can mean that the pelvic floor is far less able to adequately support the internal organs, and this lack of strength may play a role in incontinence. Stretchy collagen in the bladder-wall can also allow the bladder to stretch far more than that of a non-hypermobile person, meaning a patient often ‘holds on’ far longer than they should before urinating; causing urination problems, infection, or leaking. ‘The causes of urinary tract dysfunction in the hypermobility syndromes may be related to changes in the anatomy of the bladder and pelvis, or may be neurological and affecting the sympathetic nerve autonomic control of the bladder, psychogenic [influenced by things like anxiety and pain], or as a consequence of infection and inflammation of the urinary tract. It is also important to consider the presence of bowel problems too in the hypermobility syndromes as things like chronic constipation may affect bladder function (6, 7,8, 9).
Dysfunction of the urinary tract covers disorders such as:
Frequency - the need to urinate frequently.
Urgency - the need to urinate urgently; sometimes urine leaks before you have time to get to the toilet. It is usually due to an overactive bladder.
Dysuria - painful or difficult urination.
Nocturia - the need to wake and pass urine at night.
Urinary incontinence - the involuntary loss of urine as a result of more pressure in the bladder than in the sphincter.
Stress incontinence - a condition (found chiefly in women) in which there is involuntary emission of urine when pressure within the abdomen increases suddenly, such as in coughing or jumping. Commonly found in women who have given birth, urinary stress incontinence is found at increased frequency in females who have never given birth within the hEDS/HSD community (13).
Urinary tract infections - reported more frequently in girls with hypermobility compared to controls (1, 10, 11).
Voiding symptoms - this can be due to nerve dysfunction, non-relaxing pelvic floor muscles or both. Voiding dysfunction is also classified as being caused by under-activity of the bladder. Symptoms include difficulty emptying the bladder such as slow or weak urine stream, urinary hesitancy, dribbling of urine, and overflow incontinence (due to chronic urinary retention).
Doctors treating those with hEDS/HSD who have symptoms of urinary tract dysfunction may need to modify the standard advice they would usually give to non-hypermobile females, paying greater attention to considerations such as fluid intake and surgical implications (see page 165), to take into account problems that tend to arise in the hypermobility syndromes (6, 11)...
End of excerpt 2 - In the book, the remainder of this section carries on to discuss urogynaecological symptoms and hEDS/HSD including: gynaecological aspects (pelvic floor weakness, pelvic organ prolapse, anterior prolapses, posterior wall prolapse, uterine prolapse) and touches on other aspects (painful menstrual cramps, pain during intercourse etc.).
References and information on male urinary tract dysfunction can be found by scrolling down this page.
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References - Excerpt 1 - Male Urinary Tract Dysfunction
1. EDS Support UK - The Urinary Tract. By Peter Cuckow FRCS Registrar in Paediatric Surgery and Urology. St James’s University Hospital, Leeds. www.ehlers-danlos.org/about-eds/medical-information/the-urinary-tract/#sthash.kIEGTw5l.dpuf, and Cuckow P. -The Urinary Tract www.ehlers-danlos.org/the-urinary-tract/#sthash.yzcz53cC.dpuf (The Urinary Tract)
2. Hakim A.J 2013f (HMSA) - Bladder and the pelvic floor - www.hypermobility.org
3. De Kort L.M et al 2003 - Lower urinary tract dysfunction in children with generalised joint hypermobility of joints. Journal of Urology 170:1971-1974
4. Adib N. et al 2005 - Joint hypermobility syndrome in childhood - A not so benign multisystem disorder? Rheumatology 44:744-750
5. Tinkle B.T. 2010 - Joint Hypermobility Handbook - A Guide for the Issues & Management of Ehlers-Danlos syndrome hypermobility type and the hypermobility syndrome
6. Levard G et al 1989 - Urinary bladder diverticula and the Ehlers- Danlos syndrome in children. J Pediatr Surg 1989:24:1184–1186.
www.ehlers-danlos.org/about-eds/medical-information/the-urinary-tract/#sthash.aoyG7T2l.dpuf)
References - Excerpt 2 - Urogynaecological symptoms
1.Tinkle B.T. 2010 - Tinkle B.T. 2010 - Joint Hypermobility Handbook - A Guide for the Issues & Management of Ehlers-Danlos syndrome hypermobility type and the hypermobility syndrome
2. Castori M. 2010 - Natural History and Manifestations of the Hypermobility Type Ehlers-Danlos Syndrome: A Pilot Study on 21 Patients
3. Smith M.D. et al 2012 - Stress urinary incontinence as the presenting complaint of benign joint hypermobility syndrome - Short Rep. 2012 Sep; 3(9): 66.Published online 2012 Sep 26. doi: 10.1258/shorts. 2012.012005 PMCID: PMC3545343.
4. Dickson M.J & Davis S. 2011 - Writing In response to letter from Ross J & Grahame R. 2011 Hypermobility - easily missed - The British Medical Journal - BMJ 2011; 342 doi: dx.doi.org/10.1136/bmj.c7167 (Published 20 January 2011) Cite this as: BMJ 2011;342:c7167)
5. McIntosh L.J. 1995 - J Soc Gynecol Investig. 1995 May-Jun;2(3):559-64. Gynecologic disorders in women with Ehlers-Danlos syndrome.
6. Hakim A.J 2013 (HMSA) - Bladder and the pelvic floor - www.hypermobility.org
7. Hakim A.J. & Grahame R. 2004. Non-musculoskeletal symptoms in joint hypermobility syndrome. Indirect evidence for autonomic dysfunction? For The Oxford Journals 04
8. Bravo J.F & Wolff C. 2006 - Clinical study of hereditary disorders of connective tissues in a Chilean population: joint hypermobility syndrome and vascular Ehlers-Danlos syndrome. 2006 Feb;54(2):515-23.
9. Mathias C.J. 2011 - Postural tachycardia syndrome--current experience and concepts. 2011 Dec 6;8(1):22-34. doi: 1038/nrneurol.2011.187. Autonomic and Neurovascular Medicine Unit, Imperial College London and Nature Reviews Neurology. 2011;8:22–34.
10. De Kort L.M et al 2003 - Lower urinary tract dysfunction in children with generalised joint hypermobility of joints. Journal of Urology 170:1971-1974.
11. Adib N. et al 2005 - Joint hypermobility syndrome in childhood - A not so benign multisystem disorder? Rheumatology 44:744-750.
12. EDS Support UK - The Urinary Tract. By Peter Cuckow FRCS Registrar in Paediatric Surgery and Urology. St James’s University Hospital, Leeds. www.ehlers-danlos.org/about-eds/medical-information/the-urinary-tract/#sthash.kIEGTw5l.dpuf
13. Castori M. 2010a - Natural History and Manifestations of the Hypermobility Type Ehlers-Danlos Syndrome: A Pilot Study on 21 Patients ww.researchgate.net/publication/41415410_Natural_History_and_Manifestations_of_the_Hypermobility_Type_Ehlers-Danlos_Syndrome_A_Pilot_Study_on_21_Patients
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