Gastrointestinal

Ep-PAINE-nym

Posted by

5

Rovsign’s Sign

Other Known Aliases – none

Definition – palpation of the left lower quadrant causes perceived pain in the right lower quadrant

Clinical Significance – A positive Rovsing’s sign is suggestive of appendicitis. There are two mechanisms that illicit this response. First, palpation of the left lower quadrant stretch the peritoneal lining over the appendix and causes pain. Second, deep palpation of descending colon in the left lower quadrant causes the gas present to stretch the lumen of the colon and appendix causing pain.

History – Named after Niels Thorkild Rovsing (1862-1927), who was a Danish surgeon and received his medical doctorate from the University of Copenhagen in 1885. He went on to become professor of operative surgery there in 1899, as well as chief surgeon at Louise-Børnehospital and Red Cross Hospital. He was a huge advocate for better surgical accommodations for patients, even going so far as to commission his own private surgical nursing home to care for his postoperative patients. He was international recognized as an accomplished abdominal surgeon, writing extensively on these surgical diseases. He first published his findings of his eponymous exam finding in 1907 in an article entitled “Indirect cause of typical pain at McBurney’s point”.

He also has several other surgical eponyms attributed to him including:

  • Rovsing Operation I and II for horseshoe kidney
  • Rovsing Syndrome

References

  1. Firkin BG and Whitwirth JA.  Dictionary of Medical Eponyms. 2nd ed.  New York, NY; Parthenon Publishing Group. 1996.
  2. Bartolucci S, Forbis P.  Stedman’s Medical Eponyms.  2nd ed.  Baltimore, MD; LWW.  2005.
  3. Yee AJ, Pfiffner P. (2012).  Medical Eponyms (Version 1.4.2) [Mobile Application Software].  Retrieved http://itunes.apple.com.
  4. Whonamedit – dictionary of medical eponyms. http://www.whonamedit.com
  5. Up To Date. www.uptodate.com
  6. N. T. Rovsing. Indirektes Hervorrufen des typischen Schmerzes an McBurney’s Punkt. Ein Beitrag zur diagnostik der Appendicitis und Typhlitis. Zentralblatt für Chirurgie, Leipzig, 1907, 34: 1257-1259.

#49 – Hernias

Posted by

0

***LISTEN TO THE PODCAST HERE***

Epidemiology

  • Approximately 5 million people in the US
    • Majority are groin hernias
      • 2/3rd are on the right
  • 1/3rd of all repairs are ventral hernias
    • 1/3rd of these are incisional and 2/3rd are primary

Anatomy

The abdominal wall is made up of multiple, overlapping muscles and connective tissue whose main purpose is to contain and protect the intra-abdominal organs, while also serving as accessary muscles of respiration and facilitating axial movements.  The bony boundaries of the abdominal cavity are:

  • Xiphoid process superiorly and costal margins laterally
    • With diaphragm separating the abdominal cavity from thoracic cavity
  • Pubic symphysis inferiorly and iliac crests laterally
    • With the inguinal ligament connecting them

The lateral rectus abdominis muscles also fuse midline to form the linea alba and laterally to the connect with the confluence of the external oblique, internal oblique, and transverse abdominis muscles.

Weakness at any of these junctions (either anatomic or iatrogenic) can allow herniation of abdominal contents through this defect.  Pascal’s principle states that any pressure generated within a closed system (abdominal cavity) is transmitted equally to the walls of the system.

Classification and Definitions of Hernia Types

  • Ventral
    • Anterior
    • Epigastric
      • Occur between Xiphoid and umbilicus
      • Generally < 1cm in size
    • Umbilical
      • Most common overall and more common in women
    • Spigelian
      • Occurs through aponeurosis of the transverse abdominal muscle bounded by the linea semilunaris and lateral edge of the rectus muscle medially
    • Incisional
  • Groin
    • Inguinal
      • Indirect (most common overall)
        • Through the deep ring and inguinal canal
    • Femoral (more common in women)
      • Through the femoral ring into the femoral canal posterior and inferior to the inguinal ligament

Signs and Symptoms

  • History
    • Can be asymptomatic if small
    • Most patients will feel a “bulge” and have varying degree of pain associated with this
    • Coughing, straining, or Valsalva worsen the pain or increase the size
    • Groin Hernias
      • Heaviness or dull discomfort in the groin
      • Pain improves when lying supine
    • Systemic symptoms (fever, nausea/vomiting, abdominal pain, bloating) should raise your suspicion of an incarcerated or strangulated hernia
  • Physical Examination
    • Abdominal wall should be examined with the patient standing and lying supine
      • Have patient bear down or cough to accentuate while palpating in the anatomic region
    • Examine for previous surgical incisions
    • Palpate around the umbilicus
    • In men, invaginate the scrotal skin to reach the inguinal canal
    • Femoral hernias most commonly occur medial to the femoral pulse
    • If any erythema or induration is visible, or if the bulge is tender to palpation, this should raise your suspicion of an incarcerated or strangulated hernia

Diagnosis

Most hernias in non-obese patients should be diagnosed by careful and thorough history and physical examination.  In others, radiographic investigation must be performed.

  • Computed Tomography
    • Gold standard to identify sac, contents, and surrounding edema or inflammation
  • Ultrasound
    • Can be very helpful if the diagnosis of groin hernia is unclear
o https://www.youtube.com/watch?v=SWzpcc4ZR-U

Surgical Repair

Most hernias will require surgical repair at some point.  The decision for operative management comes down to risk of future complications, size, and symptom tolerance.  Patients with strangulation or incarceration MUST emergent/urgent surgical repair to limit the risk of bowel ischemia.

Surgeon preference and patient considerations dictate laparoscopic vs open hernia repair.

Preclusion to laparoscopic repair include:

  • Prior surgery involving the preperitoneal space
  • Complicated hernias
  • Ascites
  • Inability to tolerate general anesthesia

Surgical Techniques for Groin Hernias

  • ††Open
    • Tension-free mesh repairsPrimary tissue approximation non-mesh repair
  • Laparoscopic (both require mesh)
    • Totally extraperitoneal (TEP) repair
      • Avoids the peritoneal cavity by developing a plane of dissection in the preperitoneal space
        • Landmarks for entry to the preperitoneal space are:
          • Median umbilical ligament
          • Hernia defect
      • This space is entered by establishing a plane between the posterior surface of the rectus muscle and posterior rectus sheath and peritoneum
  • Transabdominal preperitoneal patch (TAPP) repair
    • Advantage is that all three groin hernia types are well visualized and in close proximity to each other
https://www.youtube.com/watch?v=cEZ11BJXhAY

Surgical Repair for Ventral Hernias

  • Goals for repair
    • Prevent hernia recurrence
    • Low rate of surgical site infection
    • Provide dynamic muscle support
    • Provide a repair with physiologic tension
    • Prevent eventration or abdominal wall bulging
    • Incorporate the abdominal wall
  • < 1cm
    • Open repair with or without mesh directly over the defect
  • 1-10cm
    • Can be repaired either open or laparoscopic with mesh
      • 1-4cm midline ventral – open
      • 1-4cm incisional – open or laparoscopic
      • 4-10cm all types – laparoscopic
  • > 10cm
    • Unlikely to be closed laparoscopic and require open

Cottage Physician

References

  1. Park AE, Roth JS, Kavic SM. Abdominal wall hernia. Current problems in surgery. 2006; 43(5):326-75. [pubmed]
  2. Earle DB, McLellan JA. Repair of umbilical and epigastric hernias. The Surgical clinics of North America. 2013; 93(5):1057-89. [pubmed]
  3. Flament JB. [Functional anatomy of the abdominal wall]. Der Chirurg; Zeitschrift fur alle Gebiete der operativen Medizen. 2006; 77(5):401-7. [pubmed]
  4. Ellis H. Applied anatomy of abdominal incisions. British journal of hospital medicine (London, England : 2005). 2007; 68(2):M22-3. [pubmed]
  5. Rutkow IM. Demographic and socioeconomic aspects of hernia repair in the United States in 2003. The Surgical clinics of North America. 2003; 83(5):1045-51, v-vi. [pubmed]
  6. McIntosh A, Hutchinson A, Roberts A, Withers H. Evidence-based management of groin hernia in primary care–a systematic review. Family practice. 2000; 17(5):442-7. [pubmed]
  7. Murphy KP, O’Connor OJ, Maher MM. Adult abdominal hernias. AJR. American journal of roentgenology. 2014; 202(6):W506-11. [pubmed]
  8. Bedewi MA, El-Sharkawy MS, Al Boukai AA, Al-Nakshabandi N. Prevalence of adult paraumbilical hernia. Assessment by high-resolution sonography: a hospital-based study. Hernia : the journal of hernias and abdominal wall surgery. 2012; 16(1):59-62. [pubmed]
  9. Earle D, Roth JS, Saber A, et al. SAGES guidelines for laparoscopic ventral hernia repair. Surgical endoscopy. 2016; 30(8):3163-83. [pubmed]
  10. Sailes FC, Walls J, Guelig D, et al. Synthetic and biological mesh in component separation: a 10-year single institution review. Annals of plastic surgery. 2010; 64(5):696-8. [pubmed]
  11. Shell DH, de la Torre J, Andrades P, Vasconez LO. Open repair of ventral incisional hernias. The Surgical clinics of North America. 2008; 88(1):61-83, viii. [pubmed]
  12. Luijendijk RW, Hop WC, van den Tol MP, et al. A comparison of suture repair with mesh repair for incisional hernia. The New England journal of medicine. 2000; 343(6):392-8. [pubmed]
  13. DiBello JN, Moore JH. Sliding myofascial flap of the rectus abdominus muscles for the closure of recurrent ventral hernias. Plastic and reconstructive surgery. 1996; 98(3):464-9. [pubmed]

Ep-PAINE-nym

Posted by

0

Hirschprung Disease

Other Known Aliases – congenital aganglionic megacolon, congenital intestinal aganglionosis

Definition – motor disorder of the intestines due to failure of the neural crest cells, which are precursors of ganglion cells) to fully migrate during embryonic development of the colon.

Clinical Significance – As a result of this aganglionosis of the colon, the distal intestines are unable to relax and cause a functional obstruction. Children affected by this condition fail to pass their meconium stool in the first 48 hours of life and may have abdominal distention, bilous emesis, and/or enterocolitis. Diagnosis is made with contrast enema and suction rectal biopsy.

History – Named after Harald Hirschprung (1830-1916), who was a Danish physician and received his medical doctorate from the University of Copenhagen in 1855. In 1870, he became the first Danish pediatrician and was appointed chief physician of Queen Louisa Hospital for Children in 1879. He presented his eponymous findings at the Berlin Congress for Children’s Diseases in 1886 where he described two infants who had died from “constipation associated with dilation and hypertrophy of the colon”. He published his findings a year later in an article entitled “Stuhlträgheit Neugeborener in Folge von Dilatation und Hypertrophie des Colons”. Other notable contributions of Dr. Hirschprung include being one of the first physicians to successfully reduce intussuception by pneumatic means and being an advocate for free health care for all children.

References

  1. Firkin BG and Whitwirth JA.  Dictionary of Medical Eponyms. 2nd ed.  New York, NY; Parthenon Publishing Group. 1996.
  2. Bartolucci S, Forbis P.  Stedman’s Medical Eponyms.  2nd ed.  Baltimore, MD; LWW.  2005.
  3. Yee AJ, Pfiffner P. (2012).  Medical Eponyms (Version 1.4.2) [Mobile Application Software].  Retrieved http://itunes.apple.com.
  4. Whonamedit – dictionary of medical eponyms. http://www.whonamedit.com
  5. Up To Date. www.uptodate.com
  6. Hirschsprung H. Stuhlträgheit Neugeborener in Folge von Dilatation und Hypertrophie des Colons. [Constipation of newborns as a result of dilatation and hypertrophy of the colon] Jahrbuch für Kinderheilkunde und physische Erziehung 1888;27:1–7
  7. Hirschsprung H. Fälle von Angeborenen Pylorusstenose, Beobachtet bei Säuglingen. Jahrbuch für Kinderheilkunde und physische Erziehung 1888;27:61-8
  8. Lister J. Hirschsprung: the man and the disease. Journal of the Royal College of Surgeons of Edinburgh. 1977; 22(6):378-84. [pubmed]
  9. Skaba R. Historic milestones of Hirschsprung’s disease (commemorating the 90th anniversary of Professor Harald Hirschsprung’s death). Journal of pediatric surgery. 2007; 42(1):249-51. [pubmed]
  10. Roed-Petersen K, Erichsen G. The Danish pediatrician Harald Hirschsprung. Surgery, gynecology & obstetrics. 1988; 166(2):181-5. [pubmed]

#48 – Hirschsprung Disease

Posted by

0

*** LISTEN TO THE PODCAST HERE ***

Pathophysiology

  • Motor gut disorder characterized by failure of the neural crest cells (which are precursors to the enteric ganglion cells) to fully migrate to the distal portions of the colon.
    • Most accepted theory is there is a defect in the craniocaudal migration of neuroblasts that occurs between 4-7 weeks gestation
      • 12 genetic mutations currently identified predominantly affecting the RET proto-oncogene
        • Produces a tyrosine kinase protein that transduces growth and differentiation signals in developing tissues
  • The absence of these cells in the mucosal and muscular layer of the colon results in the failure of the colonic muscles to relax.

Epidemiology

  • Occurs in 1:5000 live births
  • Male:Female ratio of 3-4:1
  • 80% of cases affect the rectosigmoid junction (termed short-segment disease)
  • 15-20% of cases extend to the proximal sigmoid colon (termed long-segment disease)
  • <5% of cases affect the entire colon

Associated Syndromes

  • Trisomy 21(up to 16% of cases)
  • Bardet-Biedi
  • Cartilage-hair hypoplasia
  • Congenital central hypoventilation syndrome
  • Familial dysautonomia
  • Multiple endocrine neoplasia type 2
  • Mowat-Wilson
  • Smith-Lemli-Opitz
  • Waardenburg

Associated Congenital Anomalies

Up to 25% of Hirschsprung patients have other congenital anomalies including:

  • Genitourinary (20-40%)
    • Hydronephrosis, renal agenesis
  • Visual/Hearing Impairment (5-40%)
    • Most are refractive errors
  • Congenital Heart Disease (50%)
    • Almost exclusively in syndromic Hirschsprung
  • Anorectal Malformations

Signs and Symptoms

  • Failure to pass meconium in first 48 hours
    • 100% of normal full-term infants pass meconium in first 48 hours in contrast to only 10-40% of infants with Hirschsprung
  • Abdominal distention
    • Squirt/Blast Sign
      • Explosive expulsion of gas and stool after digital rectal examination
  • Bilious emesis
  • Enterocolitis and volvulus are rare, life-threatening complications or presentations
  • Most are diagnosed in the neonatal period, but less-severe short-segment disease can present as late as 3 years old

Diagnostic Work-Up

  • Indications for testing include:
    • Symptoms of obstruction
    • Failure to pass meconium after 48 hours
    • Constipation and Trisomy 21 (or other associated syndrome)
    • Constipation and physical examination suggestive of Hirschsprung
  • If fever, lethargy, and/or obstipation are present, emergent evaluate for enterocolitis is needed
  • Studies
    • “Unprepped” contrast enema
      • Identification of transition zone
        • Change from normal caliber/narrowed rectum to dilated proximal colon
  • Anorectal manometry
    • Useful in ultrashort segment disease
    • Can approach 100% NPV is performed properly
    • Suction rectal biopsy
      • GOLD STANDARD for diagnosis
      • Location should be 2cm above the level of the dentate line
  • Histology findings
    • Presence of hypertrophic nerve fibers
    • Increased acetylcholinesterase activity or staining in the muscularis mucosae
    • Decreased or absent calretinin-immunoreactive fibers in the lamina propria
Abnormal acetylcholine esterase (AchE)-positive nerve fibers (brown) in the mucosa

Treatment

  • Surgery is the mainstay of treatment
    • Resect the affected segment
    • Bring the normal ganglionic bowel down to anus
    • Preserve internal sphincter function
  • Originally, this was an open, two-stage procedure with a diverting colostomy
    • To allow the dilated segement to decompress back to normal size
  • Now, it can be performed as a single-stage operation either laparoscopically or transanally
  • 3 types of Pull-Through Procedures
  • Complications
    • Anastomotic stricture, constipation, incontinence, or enterocolitis

The Cottage Physician (1893)

Chapter – Children and Their Diseases

References

  1. Hoffenberg EJ, Furuta GT, Kobak G, Walker T, Soden J, Kramer RE, Brumbaugh D. Gastrointestinal Tract. In: Hay, Jr. WW, Levin MJ, Deterding RR, Abzug MJ. eds. Current Diagnosis & Treatment: Pediatrics, 24e New York, NY: McGraw-Hill
  2. Badner JA, Sieber WK, Garver KL, Chakravarti A. A genetic study of Hirschsprung disease. American journal of human genetics. 1990; 46(3):568-80. [pubmed]
  3. Fu M, Tam PK, Sham MH, Lui VC. Embryonic development of the ganglion plexuses and the concentric layer structure of human gut: a topographical study. Anatomy and embryology. 2004; 208(1):33-41. [pubmed]
  4. Goldstein AM, Hofstra RM, Burns AJ. Building a brain in the gut: development of the enteric nervous system. Clinical genetics. 2013; 83(4):307-16. [pubmed]
  5. Amiel J, Sproat-Emison E, Garcia-Barcelo M, et al. Hirschsprung disease, associated syndromes and genetics: a review. Journal of medical genetics. 2008; 45(1):1-14. [pubmed]
  6. Pini Prato A, Rossi V, Mosconi M, et al. A prospective observational study of associated anomalies in Hirschsprung’s disease. Orphanet journal of rare diseases. 2013; 8:184. [pubmed]
  7. Sarioglu A, Tanyel FC, Büyükpamukçu N, Hiçsönmez A. Hirschsprung-associated congenital anomalies. European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery … [et al] = Zeitschrift fur Kinderchirurgie. 1997; 7(6):331-7. [pubmed]
  8. Khan AR, Vujanic GM, Huddart S. The constipated child: how likely is Hirschsprung’s disease? Pediatric surgery international. 2003; 19(6):439-42. [pubmed]
  9. Arshad A, Powell C, Tighe MP. Hirschsprung’s disease. BMJ (Clinical research ed.). 2012; 345:e5521. [pubmed]
  10. Evaluation and treatment of constipation in infants and children: recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. Journal of pediatric gastroenterology and nutrition. 2006; 43(3):e1-13. [pubmed]
  11. Putnam LR, John SD, Greenfield SA, et al. The utility of the contrast enema in neonates with suspected Hirschsprung disease. Journal of pediatric surgery. 2015; 50(6):963-6. [pubmed]
  12. Meinds RJ, Trzpis M, Broens PMA. Anorectal Manometry May Reduce the Number of Rectal Suction Biopsy Procedures Needed to Diagnose Hirschsprung Disease. Journal of pediatric gastroenterology and nutrition. 2018; 67(3):322-327. [pubmed]
  13. Alizai NK, Batcup G, Dixon MF, Stringer MD. Rectal biopsy for Hirschsprung’s disease: what is the optimum method? Pediatric surgery international. 1998; 13(2-3):121-4. [pubmed]
  14. Hackam DJ, Grikscheit T, Wang K, Upperman JS, Ford HR. Pediatric Surgery. In: Brunicardi F, Andersen DK, Billiar TR, Dunn DL, Hunter JG, Matthews JB, Pollock RE. eds. Schwartz’s Principles of Surgery, 10e New York, NY: McGraw-Hill; 2015

PAINE #PANCE Pearl – Pediatrics

Posted by

0

Question

You are consulted to see a 2-day old baby boy for failure to pass the first meconium stool and an episode of bilious emesis. He was 37-weeks gestation at the time of a normal spontaneous vaginal delivery without any complications. Physical examination reveals a distended abdomen and digital rectal exam results in an explosive expulsion of stool and gas. A contrast enema was ordered and is attached. What is the specific cause (not the diagnosis) of this infant’s condition and what is the next diagnostic step?

Answer

This infant has congenital aganglionic megacolon, or Hirschprung Disease. It is caused by the failure of the neural crest cells (precursors to enteric ganglion cells) to migrate completely during intestinal development in utero. This results in the failure of the colon to be able to relax and causes a functional obstruction.

Diagnosis is made with bedside suction rectal biopsy 2cm above the level of the dentate line. Confirmatory findings on histology are abnormal acetylcholine esterase-positive nerve fibers in the mucosa.

AchE-positive Nerve Fibers (brown)

Ep-PAINE-nym

Posted by

0

Sphincter of Oddi

Other known aliases – hepatopancreatic sphincter, Glisson’s sphincter

Definition – muscular ring surrounding the major duodenal papilla at the 2nd portion of the duodenum.

Clinical Significance – the sphincter of Oddi allows for drainage of the biliary and pancreatic systems and dysfunction (mainly spasming) can can cause pancreatitis.  It is in a constant state of contraction unless relaxed by cholesytokinin released by vasoactive intestinal peptide.  Opioids, specifically morphine, has been shown to increase the risk of sphincter of Oddi dysfunction.

History – Named after Ruggero Ferdinando Antonio Guiseppe Vincenzo Oddi (1864-1913), who was an Italian physiologist and anatomist from Perugia.  He spent is formative years studying medicine at Perugia, Bologna, and Florence and was appointed head of the Physiology Institute at the University of Genoa in 1894.  In 1887, at only 23 years old, he described his eponymous structure in his paper “D’une disposition a sphincter speciale de l’ouverture du canal choledoque”.  His career, unfortunately, was derailed and cut short due to opioid addiction many believe was as a result of using morphine derivatives to study dysfunction of the sphincter.

References

  • Firkin BG and Whitwirth JA.  Dictionary of Medical Eponyms. 2nd ed.  New York, NY; Parthenon Publishing Group. 1996.
  • Bartolucci S, Forbis P.  Stedman’s Medical Eponyms.  2nd ed.  Baltimore, MD; LWW.  2005.
  • Yee AJ, Pfiffner P. (2012).  Medical Eponyms (Version 1.4.2) [Mobile Application Software].  Retrieved http://itunes.apple.com.
  • Whonamedit – dictionary of medical eponyms. http://www.whonamedit.com
  • Up To Date. www.uptodate.com
  • Helm JF, Venu RP, Geenen JE, et al. Effects of morphine on the human sphincter of Oddi. Gut. 1988; 29(10):1402-7. [pubmed]
  • Behar J.  Physiology and Pathophysiology of the Biliary Tract: the Gallbladder and Sphincter of Oddi – A Review.  ISRN Physiology, vol. 2013, Article ID 837630, 15 pages, 2013. https://doi.org/10.1155/2013/837630
  • Oddi R. D’une disposition a sphincter speciale de l’ouverture du canal choledoque. Arch Ital Biol. 1887;8:317–322
  • Loukas M, Spentzouris G, Tubbs RS, Kapos T, Curry B. Ruggero Ferdinando Antonio Guiseppe Vincenzo Oddi. World journal of surgery. 2007; 31(11):2260-5. [pubmed]

Ep-PAINE-nym

Posted by

0

Duct of Santorini

Other known aliases – accessory pancreatic duct

Definition – portion of the dorsal duct distal to the dorsal-ventral fusion point during embryonic development

Clinical Significance – 85% of the population have a single, main pancreatic duct and 15% can have an accessory duct that either drains into the duodenum by a separate ampulla (2/3), or drains into the main duct (1/3).  These anatomical variants need to be explored prior to instrumentation for pancreatic pathology as it can occur with pancreas divisum, which makes the accessory duct the principle drainage duct for the pancreas.

History – Named after Giovanni Domenico Santorini (1681-1737), who was an Italian anatomist and son of an apothecary.  He spent his formative years studying medicine throughout Bologna, Padua, and Pisa, where he received his medical doctorate in 1701.   He performed anatomical dissection demonstration in Venice for 23 years, during which he published his most famous work entitled Observationes Anatomicae.  This work was considered one of the most detailed and important anatomical texts of the time and gave way to descriptions of twelve different anatomic eponyms accredited to Santorini.

References

  • Firkin BG and Whitwirth JA.  Dictionary of Medical Eponyms. 2nd ed.  New York, NY; Parthenon Publishing Group. 1996.
  • Bartolucci S, Forbis P.  Stedman’s Medical Eponyms.  2nd ed.  Baltimore, MD; LWW.  2005.
  • Yee AJ, Pfiffner P. (2012).  Medical Eponyms (Version 1.4.2) [Mobile Application Software].  Retrieved http://itunes.apple.com.
  • Whonamedit – dictionary of medical eponyms.
  • http://www.whonamedit.com
  • Up To Date. www.uptodate.com

#44 – Celiac Disease

Posted by

0

***LISTEN TO THE PODCAST HERE***

History of the Disease

The term “celiac” has Latin and Greek roots as Aretaeus of Cappadocia named this disease in the 1st century AD “koiliakos” meaning abdomen/abdominal in patients with chronic diarrhea.  The first modern medical description of the disease was in 1888 by Samuel Gee in an paper entitled “On the Coeliac Affection”. The specific medical term for Celiac Disease is “gluten-sensitive enteropathy”. It was still relatively unexplained until Willem Dicke, a Dutch pediatrician, noted improvement in his patient’s abdominal symptoms during bread and grain shortages of World War II.

Epidemiology

  • Primarily in northern European white
  • Prevalence is widely variable due to differing rates and types of population screening throughout the world

Pathophysiology

High association with genetic predisposition to gluten sensitivity, specifically HLA-DQ2 and/or DQ8, and because of these genetic changes, serum autoantibodies are produced that attack the endomysium of the enterocytes of the small bowel.

Signs and Symptoms

Originally thought to be a disease of infancy, it is being diagnosed later and later in life, with adults first being diagnosed as late as the fifth decade.  Often, this is in the setting of failure to thrive in an infant.

Common

  • Diarrhea
  • Steatorrhea
  • Malabsorption
    • Anemia (iron), weight loss, metabolic bone disease (vitamin D and calcium), vitamin deficiencies (B-complex vitamins)
      • Peripheral neuropathy, ataxia

Associated Clinical Findings

  • Dermatitis herpetifomis
    • Pruritic papules and grouped vesicles on the elbows, forearms, knees, scalp, back, and buttock.
    • 1:369 patients diagnosed with celiac disease
    • Diagnosed with biopsy histologic evidence of IgA deposition in basement membrane
  • Down Syndrome
    • As high as 16% association, which isa 20-fold increase compared with general public
  • Also associated with liver disease, diabetes, thyroid disease, inflammatory bowel disease

Screening and Diagnosis

  • Who should be screened?
    • Patients with chronic diarrhea, malabsorption, weight loss, or abdominal distension and bloating
    • Patients without other explanations for extraintestinal diseases such as anemia, elevated transaminases, peripheral neuropathy, ataxia, etc.
    • Patients with type 1 DM and signs or symptoms of celiac disease
    • Asymptomatic first-degree relatives of patients with confirmed celiac disease
  • Immunoglobulin A (IgA) anti-tissue transglutaminase (TTG) is the initial screening test of choice
    • If positive, then proceed with duodenal biopsy via endoscopy
    • If negative, HLA-DQ2/DQ8 testing is performed to evaluate for nonceliac gluten sensitivity
      • If negative, then celiac is ruled-out
      • If positive, then slow introduction of gluten-containing foods is started
        • If unable to tolerate, then proceed with biopsy
        • If serology changes to positive, then celiac disease is confirmed
  • Endoscopic biopsy is the confirmatory test of choice in patients with positive serologic screening and high probability of celiac disease.
    • Duodenal mucosa may appear atrophic with loss of folds, visible fissures, nodular folds, and/or scalloped appearance
  • Histologic features of small bowel biopsy include increased intraepithelial lymphocytes, flat mucosa with complete loss of villi and atrophy, and/or crypt hyperplasia

Classification

Celiac disease can present as a spectrum of signs and symptoms and thus, have different classifications.

  • Classic Disease
    • 3 key features
      • Villous atrophy
      • Symptoms of malabsorption
        • Steatorrhea, weight loss, nutrient deficiencies
      • Improvement in symptoms with withdrawal of gluten-containing foods
  • Atypical Disease
    • Minor gastrointestinal complaints
    • Anemia, osteoporosis, tooth enamel issues,
    • Severe mucosal damage is present on endoscopy
  • Asymptomatic (Silent) Disease
    • Incidental finding on screening without symptoms

Management

Six key elements of successful management of celiac disease and it has a nice acronym:

  • Consultation with a skilled dietician
  • Education about the disease
  • Lifelong adherence to a gluten-free diet
  • Identification and treatment of nutritional deficiencies
  • Access to an advocacy group
  • Continuous long-term follow-up by a multidisciplinary team

Cottage Physician

This is an excerpt from the pediatric disease section on diarrhea:

References

  1. Impact – A Publication of the University of Chicago Celiac Disease Center. 2007;7(3):1-3. [article]
  2. Yan D, Holt PR. Willem Dicke. Brilliant clinical observer and translational investigator. Discoverer of the toxic cause ofceliac disease. Clinical and translational science. 2009; 2(6):446-8. [pubmed]
  3. Schuppan D. Current concepts of celiac disease pathogenesis. Gastroenterology. 2000; 119(1):234-42. [pubmed]
  4. Kagnoff MF. Celiac disease. A gastrointestinal disease with environmental, genetic, and immunologic components.Gastroenterology clinics of North America. 1992; 21(2):405-25. [pubmed]
  5. Dieterich W, Laag E, Schöpper H, et al.Autoantibodies to tissue transglutaminase as predictors of celiac disease.Gastroenterology. 1998; 115(6):1317-21. [pubmed]
  6. Sulkanen S, Halttunen T, Laurila K, et al.Tissue transglutaminase autoantibody enzyme-linked immunosorbent assay in detecting celiac disease. Gastroenterology. 1998; 115(6):1322-8. [pubmed]
  7. Fasano A, Catassi C. Clinical practice. Celiacdisease. The New England journal of medicine. 2012; 367(25):2419-26. [pubmed]
  8. Leonard MM, Sapone A, Catassi C, Fasano A.Celiac Disease and Nonceliac Gluten Sensitivity: A Review. JAMA. 2017;318(7):647-656. [pubmed]
  9. Guandalini S, Assiri A. Celiac disease: areview. JAMA pediatrics. 2014; 168(3):272-8. [pubmed]
  10. Bibbins-DomingoK, Grossman DC, et al. Screening for Celiac Disease: US Preventive Services Task Force Recommendation Statement. JAMA. 2017; 317(12):1252-1257. [pubmed]
  11. CarlssonA, Axelsson I, Borulf S, et al. Prevalence of IgA-antigliadin antibodies and IgA-antiendomysium antibodies related to celiac disease in children with Down syndrome. Pediatrics. 1998; 101(2):272-5. [pubmed]
  12. Rubio-TapiaA, Hill ID, Kelly CP, Calderwood AH, Murray JA, . ACG clinical guidelines:diagnosis and management of celiac disease. The American journal of gastroenterology. 2013; 108(5):656-76; quiz 677. [pubmed]
  13. ShahVH, Rotterdam H, Kotler DP, Fasano A, Green PH. All that scallops is not celiac disease. Gastrointestinal endoscopy. 2000; 51(6):717-20. [pubmed]
  14. OberhuberG, Granditsch G, Vogelsang H. The histopathology of coeliac disease: time for astandardized report scheme for pathologists. European journal of gastroenterology & hepatology. 1999; 11(10):1185-94. [pubmed]
  15. National Institutes of Health Consensus Development Conference Statement on Celiac Disease, June 28-30, 2004.Gastroenterology. 2005; 128(4 Suppl 1):S1-9. [pubmed]