MG a 9-year-old African American girl is brought in by her mother with a complaint of abdominal pain and a 3lb weight loss. The mother states that she has soft brown stools (1-2/day), bloating, and flatulence. Her symptoms have become worse in the last week. She attributes the change in symptoms to her increased intake of milk 4-5 glasses/day over the last 3 months. Previously, she consumed moderate amounts of dairy produce but only drank a little milk. When asked where her tummy hurts, she pointed to her mid abdomen. MG states that her pain is severe and goes away after she passes stool. She denies nausea, vomiting, fever, or chills. MG has a history of eczema. Family history reveals her 14-years-old sister has been diagnosed with irritable bowel syndrome and lactose intolerance.
• Primary diagnosis
Abdominal pain NOS (ICD-9 code 789.0)
• Other diagnoses listed in today’s record at end of visit
Loss of weight (ICD-9 code 783.21)
Abdominal distention (ICD-9 code 787.3)
Sensitivity to milk products (ICD-9 code V15.02)
Identify three topics or questions that were not addressed, or not addressed sufficiently, in the patient encounter that would have been useful in generating a working differential diagnosis. Why would these have been useful? What additional information would this information have provided?
Topics that were not addressed:
Lactose intolerance related to celiac disease.
Symptoms of excessive flatulence, abdominal pain, and bloating could be the resultant of unabsorbed lactose through the small intestines of the colon. In Celiac Disease there is a loss of intestinal villi so lactase is not able to break down glucose into galactose to lactulose. The direct result from inadequate absorption of nutrients is weight loss and short stature. Typically, children with celiac disease have diarrhea, steatorrhea and flatulence. Symptoms of lactose intolerance may improve by removing gluten from their diet. The villi damage can take up to two years to be restored (Yasutoshi Sakamoto et al., 2008, Bonamico, 2012).
Gluten sensitivity has been attributed to symptoms of abdominal cramping, bloating, and diarrhea. Most processed foods contain wheat flour which can exacerbate symptoms of stomach upset or abdominal pain. There has been recognition that the protein found in wheat, rye, barley, and oat are triggers inflammatory conditions such as Celiac Disease or gluten enteropathy. The change in the intestinal lining primarily affects the digestives enzymes, absorption of nutrients and cellular function (Sakamoto et al., 2008).
Functional Abdominal Pain (FAP)
Functional abdominal pain (no known organic cause) is a common cause of chronic and recurrent abdominal pain in children (Berger, 2007). MG’s mother notes that there have been frequent episodes of abdominal pain in the last couple of months. Her complaints may represent a recurrence of chronic abdominal pain. Functional abdominal pain is also frequently associated with stress or anxious personalities. It may be triggered by the family, stress in of being in a new environment, conflict with friends divorce or death. One common type of functional abdominal pain is irritable bowel syndrome is a common type of abdominal pain which Unlike "organic" abdominal pain, is not caused by a physical blockage, ulcer, infection, or colitis. This pain can also be triggered by factors such as constipation or lactose intolerance (American Academy of Pediatrics, 2005).
Identify three components of the subjective data that supported the final diagnosis. How did they support the final diagnosis? Provide rationale.
The diagnosis of lactose intolerance is evident on the bases of clinical history, precipitation of gastrointestinal symptoms within minutes to a few hours after consumption of products containing lactose (dairy). Primary lactose intolerance refers to the decreased amount or lack of lactase enzyme that can develop at any age and results in symptoms of abdominal pain,Flatulence, diarrhea, nausea, and/or bloating after consuming lactose-containing foods (Heyman, 2006). Primary lactose intolerance affects 70% of the world’s population (Heyman, 2006), although prevalence differs greatly by ethnic population, with the highest prevalence in Asians , American Indians , African Americans, and Ashkenazi Jews. Onset of lactose intolerance frequently occurs in childhood. In Latino, Asian, and African American children, 20% may manifest symptoms before 5 years of age, while Caucasian children are more likely to manifest symptoms after 4 or 5 years of age (Heyman, 2006).
MG is consuming moderate amounts of dairy produce but only a little milk. The threshold for lactose varies. Some people can tolerate a glass of milk (240 mL = 11 g lactose) a day, (Suchy, 2010) whereas most hard cheeses are quite low in lactose and contains enough calcium (Heyman, 2006). Live-culture yogurts, and cheeses are better tolerated since lactose is partly hydrolyzed by bacteria during their preparation, and gastric emptying is slower (Heyman, 2006). Lactose tolerance may gradually increase by intake of milk, but this does not increase lactase activity, however, it allows adaptation of the intestinal microflora (Lomer et al., 2008).
A positive family history is common (Saito & Tally, 2008)). MG’s sister was diagnosed with irritable bowel syndrome with very similar symptoms. MG’s onset of symptoms is typically subtle and progresses to severe pain. She claims that the passage of stool relieves the abdominal pain. During the day, her mom notices her abdomen is bloated until she either has a bowel movement or passes flatus. Lactose intolerance can cause irritable bowel syndrome. Gluten-containing foods and daily products are genetically allergenic (Sakamoto et al., 2008). Some people simply are not able to digest dairy and gluten, and these foods become irritants in their intestines, causing an auto-immune response (Sakamoto et al., 2008). In these cases, lactose intolerance is not the cause the problem; it's a genetic precursor (American College of Gastroenterology Task Force on Irritable Bowel Syndrome; Brandt et al, 2009).
Identify two or more components of the physical examination that you did not include in your examination that would have been useful in generating a working differential diagnosis. Why would these have been useful? What additional information might this have provided? Use references.
• Stool Guaiac
(Weight loss) Further evaluation to help exclude an organic cause of her abdominal pain is reasonable (Tack, 2010).
• Stool for ova and parasites
Parasitic infection with Giardia or Cryptosporidium can yield symptoms of abdominal pain. In immune-competent individuals, symptoms of cryptosporidiosis may be mild, but relapses can occur after a symptom-free period of days to weeks (John, 2007). While MG does not have any known contacts with these agents, stool sample testing is fairly non-invasive and should be easily accomplished (Huang & White, 2006).
• Breath hydrogen test
It is a reliable diagnostic test of choice for lactose intolerance. Lactose is administered after an overnight fast. Before and at 30-minute intervals, expired air samples are collected for 3 hours to assess hydrogen gas concentrations. According to (Beyerlein, 2008) is detected after a rise in breathe hydrogen concentration greater than 20 parts per million over the baseline after lactose ingestion. If lactose intolerance is suspected, this should be the initial test, with other tests to exclude a differential diagnosis or an underlying related condition causing secondary disease.
Identify three components of the physical exam performed on the patient that supported your final diagnosis. How did they support the final diagnosis? Provide rationale. Use references.
Pediatric patients with systemic symptoms due to lactose intolerance from nondairy products (hidden lactose) are generally not aware of the relationship between their symptoms and lactose (Matthews, 2005). Atopic dermatitis is one of the common symptoms of protein intolerance. About 1/3 of children with atopic dermatitis have a cow's milk protein allergy and milk protein intolerance (Matthews, 2005). According to elimination diet and challenge tests, about 20-40% of children younger than 1 year with protein intolerance have atopic dermatitis. A higher percentage of children with protein intolerance and atopic dermatitis and develop a complete tolerance in a few years (Sicherer, 2010).
According to Lee, et al (2009), a decline in lactose production does occur in most individuals over the course of their lifetime. He argues that this decline often leads to the avoidance of dairy products and ultimately, reduces calcium intake and/or absorption. Ingram, et al (2009) identify that the human adult-onset lactase decline may actually begin in early childhood in African Americans resulting in the risks of nutrient deficits from avoidance of dairy foods due to lowered and/or absent lactase. Primary hypolactasia is more common in nonwhite people than white people, due to higher frequencies of lactase non persistence in this group. Evidence suggest that individuals whose ancestors consumed large amounts of dairy products over very long periods have lactase persistence due to mutations, while those whose ancestors consumed small amounts of dairy products have lactase non persistence and develop lactose intolerance at variable ages (Ingram, 2009).
MG’s mom takes note of abdominal bloating and distention during the day. It improved with defecation or passage of flatus. Generally the cramping in nature can be mild to severe and in the lower and/or mid-abdomen. According to Longstreth (2006) etiology is probably multifactorial and evidence suggest inflammatory, psychological, genetic, immune, and dietary components . The spectrum of etiologies and differentials that manifest abdominal pain remains broad. Depending on the age of the child, additional investigations may be required to delineate diseases that present with similar symptoms, such as functional abdominal pain. Furthermore, even with the assistance of parents or guardians, a comprehensive history is often difficult to obtain, and diagnosis therefore relies heavily on the clinical acumen of the practitioner.
Was the plan consistent with the recommendations found in these documents? If it deviated, what was the rationale? How would you manage a similar patient if you were in your own practice?
The following laboratory studies are indicated in patients with lactose intolerance:
• Blood testing
Studies have determined that genetic test results and breath test results are well-correlated, thereby eliminating the need for such testing (Krawczyk et al., 2008)
Normal results do not differentiate lactase deficiency. However, if anaemia is present, it may point toward the underlying cause of secondary disease (e.g., celiac disease, eosinophilic enteritis). If white cell count is elevated, it may point toward infective causes of secondary disease.
MG presents with weight loss, further evaluation with electrolytes to help exclude an organic cause of her abdominal pain is reasonable.
• Calcium and vitamin D level
Exclude an organic cause of her abdominal pain
• Dietary elimination
Evaluate lactase deficiency. Resolution of symptoms once lactose-containing dairy and nondairy products are eliminated from diet; food and symptoms diary may help delineate any patterns suggestive of lactose intolerance.
• Fecal pH:
Lower sensitivity and specificity than the lactose hydrogen breath test, and does not differentiate lactose from other carbohydrate (fructose, glucose, and galactose) malabsorption.
If positive for red cells, white cells, or nitrates an alternative diagnosis such as renal colic or UTI should be considered.
The specific gravity of urine can sometimes suggest volume status.
• Lactose tolerance test
Serum glucose is measured after fasting. Lactose is then administered (50 g for adults, 2 g/kg for children). Serum glucose is then re-measured at 0, 60, and 120 minutes. This test has been replaced by hydrogen breath test.
• Lactose hydrogen breath test
Values between 10 and 20 parts per million (ppm) may be indeterminate unless accompanied by symptoms. The test is noninvasive, easy-to-perform, with high sensitivity and specificity. False-positive results are seen with recent smoking or inadequate pretest fasting.False-negative results may be seen after recent use of antibiotics, in patients with lung disorders, or in approximately 10% to 20% of patients who are hydrogen non-producers.
I would advise to re-introduce lactose to tolerance to ensure the diet is not restricted unnecessarily. I would evaluate the food diary and how this elimination of foods would affect this individuals overall health. I would be cautious about avoidance of foods that may lead to a lower calcium intake. Calcium supplementation may be required and the recommendation of calcium fortified foods should be considered. I would also recommend probiotics to reduce bloating symptoms. There is, however a variability in the amount of lactace activity in different probiotics. This does not mean that the fermented products are less well tolerated in lactose intolerance (Gill & Guarner, 2004).
Based on your history and physical exam, what were the three most likely diagnosis, and why? Why were these, (at least two diagnoses in addition to the diagnosis you ultimately chose) not as likely? Provide rationales and references.
Lactose intolerance is a common disorder. Symptoms of lactose intolerance include loose stools, abdominal bloating and pain, flatulence, nausea, and flatulence (Heyman, 2006). Digestive enzymes levels are highest after birth and decline with aging (Upton, 2007). Some populations of the human species, including those of Asian, South American, and African descent, have a predisposition for developing lactase deficiency (Heyman, 2006).
A diagnosis of lactose intolerance can divert people from drinking milk or to consume specially prepared food with digestive aids, thus adding to health care costs. Pre-hydrolyzed milk (LACTAID) is available and is effective. Yogurt and fermented products, such as cheese, are better tolerated than regular milk. Soy-based milk or food products are well tolerated (Lomer et al., 2008). Commercially available lactase enzyme preparations (eg, LACTAID, Lactrase) are effective in reducing symptoms; however, they may be ineffective in some patients, partially due to insufficient dosing (Suchy, 2010)
The symptoms of irritable bowel syndrome (IBS) resemble those of lactose intolerance and can easily be confused. Some patients with IBS can also have lactose intolerance. Restriction of milk products in these patients may relieve the symptoms of IBS. Irritable bowel syndrome affects 9-12% of the population and patients present with the following symptoms: abdominal pain, bloating, constipation and/or diarrhea (Farup, 2004). Diet may influence some of these symptoms, in particular meal patterns, caffeine, dietary fiber, fluid intake, intestinal flora and food intolerance. Lactose intolerance does not lead to IBS (Farup, 2004) but often there may be sensitivity. Interestingly, IBS without lactose maldigestion have symptoms of lactose intolerance (Suchy, 2010). Furthermore, studies have shown that lactose-free milk causes the same symptoms as lactose in subjects diagnosed with lactose intolerance; this may indicate that the underlying condition is IBS (Farup, 2004).
The second diagnosis in addition to IBS not likely based on the history and physical would be gastro-esophageal reflux disease (GERD). Although MG’s father has a history of GERD and presently treated, MG’s symptoms are not comparable. The immediate family history of heartburn or GERD is approximately 3 times more likely to have the symptoms (Lee et al., 2007). Diagnosis is clinical. Heartburn and regurgitation are highly specific symptoms. These often occur after meals, especially large or fatty meals. Symptoms may be worse when the patient is lying down or bending over. Relief with antacids is typical. Symptoms alarming or may cause complications (anemia, dysphagia, hematemesis, melena, persistent vomiting, or involuntary weight loss) increase the likelihood of peptic strictures, esophagitis, or cancer (DeVault & Castelli, 2005).