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Saturday, August 26, 2017

Hirschsprung's Disease

One of my friends was recently diagnosed with this disease, and I have to admit that I had no clue about it. I knew about little to no colon motility, but I never knew that this had a name. There are lots of things that can slow the colon or stop it working completely, like scleroderma, Ehler Danlos Syndrome, and Gastroparesis. I wanted to do some research on Hirschsprung's Disease to see what information I could find to help others who may be suffering from the same thing.


According to the Atlas of Pathophysiology (http://doctorlib.info/physiology/pathophysiology/79.html),

"Hirschsprung's disease, also called congenital megacolon or congenital aganglionic megacolon, is a congenital disorder of the large intestine, characterized by absence or marked reduction of parasympathetic ganglion cells in the colorectal wall. Hirschsprung's disease appears to be a familial, congenital defect, occurring in 1 in 5,000 to 1 in 8,000 live births. It's up to 7 times more common in males than in females (although the aganglionic segment is usually shorter in males) and is most prevalent in whites. Total aganglionosis affects both sexes equally. Females with Hirschsprung's disease are at higher risk for having affected children. This disease usually coexists with other congenital anomalies, particularly trisomy 21 and anomalies of the urinary tract such as megaloureter."



Image taken from: http://slideplayer.com/slide/7541905/24/images/1/HIRSCHSPRUNG+S+DISEASE+congenital+megacolon.jpg




According to the Mayo Clinic (http://www.mayoclinic.org/diseases-conditions/hirschsprung's-disease/home/ovc-20214664), the symptoms of Hirschsprung's Disease are included but not limited to,


"Hirschsprung's (HIRSH-sproongz) disease is a condition that affects the large intestine (colon) and causes problems with passing stool. The condition is present at birth (congenital) as a result of missing nerve cells in the muscles of the baby's colon.

A newborn who has Hirschsprung's disease usually can't have a bowel movement in the days after birth. In mild cases, the condition might not be detected until later in childhood. Uncommonly, Hirschsprung's disease is first diagnosed in adults.

Surgery to bypass or remove the diseased part of the colon is the treatment."



Image taken from: http://www.birth-defect.org/wp-content/uploads/7f5592e639cf5afb772e168b4a153572.jpg



However, even though it is rare or uncommon, adults can very much get it as well.


The symptoms, according to Mayo (http://www.mayoclinic.org/diseases-conditions/hirschsprung's-disease/symptoms-causes/dxc-20214666), are,

"Signs and symptoms of Hirschsprung's disease vary with the severity of the condition. Usually signs and symptoms appear shortly after birth, but sometimes they're not apparent until later in life.

Typically, the most obvious sign is a newborn's failure to have a bowel movement within 48 hours after birth.


Other signs and symptoms in newborns may include:

Swollen belly

Vomiting, including vomiting a green or brown substance

Constipation or gas, which might make a newborn fussy

Diarrhea


In older children/adults, signs and symptoms can include:

Swollen belly

Chronic constipation

Gas

Failure to thrive

Fatigue


It's not clear what causes Hirschsprung's disease. It sometimes occurs in families and might, in some cases, be associated with a genetic mutation.

Hirschsprung's disease occurs when nerve cells in the colon don't form completely. Nerves in the colon control the muscle contractions that move food through the bowels. Without the contractions, stool stays in the large intestine.


Factors that may increase the risk of Hirschsprung's disease include:

Having a sibling who has Hirschsprung's disease. Hirschsprung's disease can be inherited. If you have one child who has the condition, future biological children could be at risk.

Being male. Hirschsprung's disease is more common in males.

Having other inherited conditions. Hirschsprung's disease is associated with certain inherited conditions, such as Down syndrome and other abnormalities present at birth, such as congenital heart disease."




Image taken from: http://www.medindia.net/images/common/patientinfo/950_400/abdominal-x-ray-can-helps-to-diagnose-the-hirschsprung-disease.jpg




According to MedicineNet (http://www.medicinenet.com/hirschsprung_disease/article.htm,

"The cause of Hirschsprung disease is due to nerve cells that are supposed to grow along the intestine and reach the anus, but do not because they stop growing too soon. Hirschsprung disease (HSCR) is a congenital (present at birth) disease of the large intestine or colon. It is one type of birth defect. People with the disease do not have the nerve cells in the intestine required to expel stools from the body normally.

Some people inherit the disease, and others have mutations in several genes. In about 50% of people with Hirschsprung disease, researchers and doctors do not know what genes cause it.

Your primary care doctor will refer you to a specialist in digestive disorders called a gastroenterologist, to diagnose the condition. Diagnosis for Hirschsprung’s is based on a physical exam, medical and family history, symptoms, and tests, for example, a digital exam.
Surgery is the treatment for this life-threatening disease (procedures include pull-through for infants and ostomy (An ostomy refers to the surgically created opening in the body for the discharge of body wastes) for toddles and older children).

After healing from surgery, your child's bowel movements may become normal. But surgery doesn't cure Hirschsprung disease. Some children/adults will have bowel problems – like constipation or fecal incontinence (“accidents”) – off and on throughout their lives.


Symptoms of Hirschsprung disease in toddlers and older children may include:

Not being able to pass stools without enemas or suppositories. An enema involves flushing liquid into the child’s anus using a special wash bottle. A suppository is a pill Placed into the child’s rectum.

Swelling of the abdomen.

Diarrhea, often with blood.

Slow growth.

Intellectual disability"



Image taken from: http://image.slidesharecdn.com/hirschsprungsdisease-140510235224-phpapp01/95/hirschsprungs-disease-3-638.jpg?cb=1399767420




According to Science Direct (http://www.sciencedirect.com/science/article/pii/S2237936315000519,

"Some patients reach adulthood without a diagnosis for this disease. Typically, patients go to the doctor with a long-standing history of constipation requiring frequent laxative use.11 The current frequency of the disease in adults is unknown, especially since HD is an overlooked and misdiagnosed disease in this age group. ...the diagnosis of HD is supported by barium enema studies, anorectal manometry and rectal biopsy.

Imaging studies such as computed tomography (CT) and barium enemas are usually accepted for evaluation of chronic constipation, which is a common disorder in adults. Our patient underwent CT due to the unavailability of a barium enema study, but CT is a more expensive method.

The anorectal manometry, even though not contributing in the present case, is an ancillary test of the utmost importance, since the presence of the rectum-anal reflex in this exam usually rule out the diagnosis of HD.

Several procedures are used to manage this disease after childhood; currently the option of choice is the surgical procedure of Duhamel. Late diagnosis contributes to the need for surgery in more than one surgical time, with ileostomy or colostomy, since the healthy colon is more distended in adolescents and adults compared to neonates and children. Nevertheless, the literature considers as the procedure of choice the Duhamel technique in only one surgical time, which reduces the hospitalization time.

This surgery is considered curative. However, post-operative bowel functioning is not always satisfactory. Enterocolitis, constipation and fecal incontinence represent the main postoperative complications in children. To date, the progression for adolescent or adult patients is not fully clarified yet, due to the small number of reported cases."



Image taken from: https://i.pinimg.com/736x/80/76/5d/80765d68dfe49fd160965c6aa5410100--menu-google-search.jpg



I really hope this will help educate you about Hirschsprung disease. I am still learning about it myself. The research I did says it is more likely to happen with children, but adults I know have it and were just officially diagnosed. After you have a rectal biopsy (because doctors do a biopsy to verify you do have HD), then they might do an anorectal manometry (which is where they stick a balloon up your rectum, kind of like the pelvic floor test). Once all of that has been confirmed, then they might start talking reconstructive pelvic surgery.


I would still advise you to be cautious, do your own research, talk to people who have had it done, and make an informed decision so you will know if this is right for you. Thank you very much to my friend who brought this illness to my attention, because I had no idea this was going on. My heart goes out to all of you who are fighting this on a daily basis.

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