Case 1-2020: An 11-Year-Old Boy with Vomiting and Weight Loss

PRESENTATION OF CASE

Dr. Jenna R. Lillemoe (Pediatrics): An 11-year-old boy was seen in the emergency department of this hospital because of ongoing vomiting and weight loss.

One month before this presentation, the patient was evaluated by his primary care pediatrician because of nausea, vomiting, decreased appetite, and weight loss. The patient and his parents reported that these symptoms had begun approximately 3 months earlier and had worsened during the past 3 weeks. The nausea and vomiting occurred in the early morning, abated later in the day, and were exacerbated by stress. The patient also reported fatigue and an intermittent sensation of regurgitation and burning in the throat. He had begun treatment with lansoprazole 5 days earlier, with no decrease in symptoms. On examination, the weight was 36.4 kg (37th percentile) and the height was 148.6 cm (58th percentile); at a visit to the primary care clinic 11 months earlier, the weight had been 40.5 kg (78th percentile) and the height had been 143.5 cm (62nd percentile). The abdomen was soft, with normal bowel sounds and without tenderness or masses. The remainder of the examination was normal. Laboratory test results are shown in Table 1. Omeprazole was prescribed, and the patient was referred to a pediatric gastroenterologist and a pediatric psychologist at this hospital.

Table 1.

Laboratory Data.^*

Variable	Reference Range, Age-Adjusted, This Hospital†	1 Mo before Presentation to ED, Primary Care Clinic	3 Wk before Presentation to ED, Gastroenterology Clinic, This Hospital	9 Days before Presentation to ED, Endoscopy Center, This Hospital
Hemoglobin (g/dl)	11.5–15.5	15.7
Hematocrit (%)	35.0–45.0	43.9
White-cell count (per μl)	4500–13,500	10,050
Differential count (%)
Neutrophils	40–59	52.9
Immature granulocytes	0.0–0.3	0.3
Lymphocytes	33–48	37.9
Monocytes	4–11	6.8
Eosinophils	0–8	1.5
Basophils	0–3	0.6
Red-cell count (per μl)	4,000,000–5,200,000	5,410,000
Mean corpuscular volume (fl)	77.0–95.0	81.1
Mean corpuscular hemoglobin (pg)	25.0–33.0	29.0
Mean corpuscular hemoglobin concentration (g/dl)	31.0–37.0	35.8
Red-cell distribution width (%)	11.5–14.5	11.6
Platelet count (per μl)	150,000–450,000	434,000
Erythrocyte sedimentation rate (mm/hr)	0–13		12
Sodium (mmol/liter)	135–145	132	138	128
Potassium (mmol/liter)	3.4–5.0	4.7	5.1	4.3
Chloride (mmol/liter)	98–108	91	95	88
Carbon dioxide (mmol/liter)	23–32	20	21	19
Anion gap (mmol/liter)	3–17	21	22	21
Calcium (mg/dl)	8.5–10.5	10.5	10.5	10.6
Phosphorus (mg/dl)			4.7	4.9
Magnesium (mg/dl)	1.7–2.4		1.9	2.1
Urea nitrogen (mg/dl)	5–20	30	22	29
Creatinine (mg/dl)	0.60–1.50	0.70	0.68	0.86
Glucose (mg/dl)	70–110	88	98	94
Protein (g/dl)
Total	6.0–8.3	8.2
Albumin	3.3–5.0	5.1
Globulin	1.9–4.1	3.1
Alanine aminotransferase (U/liter)	10–55	29
Aspartate aminotransferase (U/liter)	10–40	34
Alkaline phosphatase (U/liter)	15–350	247
Bilirubin (mg/dl)
Total	0.0–1.0	0.4
Direct	0–0.4	<0.2
Thyrotropin (μIU/ml)	0.40–5.00			7.87
Triglycerides (mg/dl)	40–150	35
Cholesterol (mg/dl)	<200	132
High-density lipoprotein (mg/dl)	35–100	57
Low-density lipoprotein (mg/dl)	50–129	68
Iron (μg/dl)	45–160	127
Total iron-binding capacity (μg/dl)	230–404	387
Ferritin (μg/liter)	20–300	393
Transferrin saturation (%)	14–50	33
C-reactive protein (mg/liter)	<8.0		2.2

^*To convert the values for calcium to millimoles per liter, multiply by 0.250. To convert the values for phosphorus to millimoles per liter, multiply by 0.3229. To convert the values for magnesium to millimoles per liter, multiply by 0.4114. To convert the values for urea nitrogen to millimoles per liter, multiply by 0.357. To convert the values for creatinine to micromoles per liter, multiply by 88.4. To convert the values for glucose to millimoles per liter, multiply by 0.05551. To convert the values for bilirubin to micromoles per liter, multiply by 17.1. To convert the values for triglycerides to millimoles per liter, multiply by 0.01129. To convert the values for cholesterol to millimoles per liter, multiply by 0.02586. To convert the values for iron and total iron-binding capacity to micromoles per liter, multiply by 0.1791. ED denotes emergency department.

^†Reference values are affected by many variables, including the patient population and the laboratory methods used. The ranges used at Massachusetts General Hospital are age-adjusted and for patients who are not pregnant and do not have medical conditions that could affect the results. They may therefore not be appropriate for all patients.

On presentation to the pediatric gastroenterology clinic of this hospital (3 weeks before this presentation), the patient reported that the nausea and vomiting had decreased slightly after he had begun treatment with omeprazole, and then the symptoms had worsened. The vomitus was nonbloody and nonbilious. He had normal bowel movements, without blood, two or three times each day.

The patient was a twin and had been born by cesarean section at 36 weeks of gestation. During infancy, he had had gastroesophageal reflux disease (GERD) that was treated with ranitidine, omeprazole, and lansoprazole. He had been admitted to a local hospital because of bronchiolitis at 15 months of age, after which he had occasional episodes of wheezing.

When the patient was 5 years of age, decreased appetite, weight loss, and episodes of vomiting preceded by sore throat developed, and he was evaluated by a pediatric gastroenterologist at another hospital. At that time, an upper gastrointestinal series, performed after the administration of barium contrast, was normal. Tests for IgA and tissue transglutaminase IgA and IgG were negative. Lansoprazole and an anti-reflux diet were prescribed, and the symptoms resolved over a period of approximately 2 months, after which the proton-pump inhibitor was discontinued.

When the patient was 6 years of age, he was referred to a pediatric nephrologist at the other hospital because of hypertension. Renal ultrasonography was normal, and the results of ambulatory blood-pressure monitoring suggested the “white coat” effect (i.e., blood pressure elevated only in a clinical setting). The patient also had seasonal allergies, red–green color blindness, and a history of speech delay and retractile testes.

At a visit to the primary care clinic when the patient was 9 years old, his body-mass index had been in the overweight range. One year before the current presentation, he had had a Salter–Harris type 2 fracture of the left fifth finger.

The patient had been receiving omeprazole and had no known allergies to medications; immunizations were up to date. He lived with his parents and twin sister in a suburban area of New England. At school, he did well academically and participated in sports. He had recently been preparing intensively for a private-school entrance examination. His father had type 1 diabetes mellitus and hypertension, and a paternal uncle had hypothyroidism.

The results of the abdominal and general physical examinations were unchanged from those obtained at the primary care clinic, and an external rectal examination was normal. The dose of omeprazole was increased, and the patient was advised to keep a food and symptom diary and follow up with a psychologist. Laboratory test results are shown in Table 1. A diagnostic test was performed.

Eight days after presentation in the pediatric gastroenterology clinic of this hospital (13 days before this presentation), the patient’s father called the clinic to report worsening of the patient’s vomiting, weight loss, and fatigue; the patient also seemed to be breathing heavily at times and reported dizziness when walking. Ondansetron was prescribed by telephone and an esophagogastroduodenoscopy was scheduled for the next morning.

Dr. Maureen M. Leonard: The next day, the patient underwent esophagogastroduodenoscopy. The esophagus, stomach, and small intestine were visualized. The esophagus appeared normal. The gastric body also appeared normal; however, the gastric antrum was erythematous, which suggested the presence of inflammation. The second part of the duodenum had diffuse, moderate indentations of the circular folds (valves of Kerckring) that were described as moderately scalloped mucosa. Biopsy specimens of the distal esophagus, gastric antrum, and duodenum were obtained for histopathological examination. Other test results are shown in Table 1.

Dr. Lillemoe: Eleven days after the esophagogastroduodenoscopy, syncope occurred when the patient got up from bed in the early morning to use the bathroom. His parents called the gastroenterologist, who recommended evaluation in the emergency department at this hospital.

On arrival at the emergency department, the patient reported that the nausea and vomiting had not decreased, that his fatigue had progressively worsened, and that he felt weak. He had recently returned from a beach vacation in the southeastern United States, where he had used sunscreen and an umbrella for sun protection.

On examination, the patient was alert, interactive, and appeared thin. The temperature was 36.8°C, the pulse 87 beats per minute, the blood pressure 108/55 mm Hg, the respiratory rate 20 breaths per minute, and the oxygen saturation 100% while he was breathing ambient air. The weight was 33.7 kg (20th percentile). The oral mucous membranes were dry. On examination of the abdomen, mild tenderness of the left upper quadrant was noted. The skin was markedly tan, most notably on light-exposed areas, including the face. The remainder of the physical examination was normal. An electrocardiogram showed normal sinus rhythm.

The patient was admitted to the hospital, additional diagnostic tests were performed, and a diagnosis was made.

DIFFERENTIAL DIAGNOSIS

Dr. Alessio Fasano: This 11-year-old boy presents with recurrent nausea and vomiting, symptoms that are common among children of similar age.^1–3 Vomiting involves the forceful expulsion of the contents of the stomach and is a highly coordinated, reflexive process controlled by the vomiting center of the central nervous system. The evolutionary role of vomiting is to rapidly clear ingested toxins, and it is often preceded by nausea, a warning signal that inhibits further food intake. Vomiting is a feature of many intestinal and extraintestinal, acute and chronic disorders, including elevated intracranial pressure, metabolic diseases, inflammation, and gastrointestinal abnormalities (anatomical and mucosal).⁴ Therefore, the differential diagnosis includes several possible causes of recurrent nausea and vomiting that can be classified into functional, anatomical, and organic causes (Fig. 1).

Figure 1.

Differential Diagnosis of Recurrent Nausea and Vomiting in Childhood.

FUNCTIONAL CAUSES

Most causes of vomiting in childhood are functional and occur as the result of a highly interactive gut–brain axis.⁵ In this patient, the characteristics of the vomiting provide critical insight into the differential diagnosis. Also, his history of GERD is informative. It is notable that, according to the physical examination, he had no fever, a rather benign abdominal examination, and no signs of rash, jaundice, decreased skin turgor, or petechiae. In contrast, the recent episode of syncope when he got up from bed and the persistent vomiting with clinically significant weight loss arouse concern.

In light of these considerations, all the functional causes can be reasonably ruled out. The patient’s personal history is not compatible with eating disorders, rumination, or Munchausen’s syndrome. Functional abdominal pain, irritable bowel syndrome, functional vomiting, and functional dyspepsia are rarely associated with weight loss. The characteristics of the patient’s vomiting episodes are not compatible with gastroparesis, a condition in which vomiting worsens during the day rather than abates.⁶ Cyclic vomiting syndrome is a rather underrecognized and probably underdiagnosed episodic disorder associated with migraine; it occurs predominantly in childhood, with attacks that are stereotyped for individual persons and that have predictable periodicity,⁷ features that are not described in this patient.

ANATOMICAL CAUSES

Typical symptoms of strangulated hernia include nausea, vomiting, fever, sudden pain that quickly escalates to severe, excruciating pain, and the inability to pass stool or gas⁸; with the exceptions of nausea and vomiting, these symptoms were not reported by this patient. Similarly, he did not present with bilious vomiting, a distended abdomen, changes in bowel habits (e.g., diarrhea or constipation), or bloody stools, symptoms that are commonly associated with malrotation with midgut volvulus.⁹

The typical features of intussusception include fever, lethargy, bilious vomiting, diarrhea, sweating, and abdominal distention,¹⁰ symptoms that were also not reported by this patient. Finally, anatomical gastrointestinal obstructions such as superior mesenteric artery syndrome and pancreatic pseudocyst are not compatible with this patient’s history (e.g., no history of abdominal trauma, spinal surgery to correct scoliosis, or sudden weight loss) nor with his symptoms (e.g., absence of bloating, early satiety, belching, and signs of obstruction of the small intestine).^11,12

ORGANIC CAUSES

Given that it is unlikely that this patient’s nausea and vomiting can be explained by a functional or anatomical cause, the differential diagnosis can be narrowed to organic causes. The patient’s history and laboratory test results are not compatible with some of the possible organic causes, including diabetic ketoacidosis, alcohol consumption, the use of illicit drugs, neurologic causes, food poisoning, infections, or genitourinary diseases. Therefore, we are left with gastrointestinal diseases and metabolic disorders to explain this patient’s symptoms.

Among the gastrointestinal diseases that are characterized by recurrent nausea and vomiting, GERD, peptic duodenitis, celiac disease, eosinophilic esophagitis, Helicobacter pylori gastritis, biliary dyskinesia, and cholelithiasis should be considered. The fact that the patient’s symptoms were not ameliorated by treatment with proton-pump inhibitors seems to rule out GERD, peptic duodenitis, and potentially, H. pylori gastritis. Furthermore, his clinical presentation makes cholelithiasis and biliary dyskinesia unlikely. Finally, his laboratory test results are not compatible with a diagnosis of eosinophilic esophagitis, and this entity can be ruled out on the basis of the histologic examination of the esophageal mucosa, which showed an increased number of eosinophils in the lamina propria.¹³ Therefore, celiac disease remains the most likely cause of his symptoms, since nausea, vomiting, chronic fatigue, and weight loss are all possible clinical manifestations of the disease.

Celiac Disease

Celiac disease is an autoimmune enteropathy triggered by ingestion of gluten-containing grains (e.g., wheat, rye, and barley) in persons who have a genetic predisposition to the disease.^14,15 Celiac disease persists in the continued presence of gliadin, the toxic component of gluten. Other characteristics of the disease include a highly specific autoantibody response against tissue transglutaminase and a strong association with major histocompatibility complex haplotypes, specifically HLA DQ2 and DQ8.^14,15 The diagnosis is based on screening tests for the presence of antibodies to tissue transglutaminase in combination with compatible typical clinical features in symptomatic patients.¹⁵ The confirmation of the diagnosis is obtained by means of an esophagogastroduodenoscopy, with biopsy specimens of the duodenum showing evidence of classic celiac enteropathy, which is characterized by an increased number of intraepithelial lymphocytes, villous blunting, and crypt hyperplasia.^14,15 Therefore, the laboratory tests requested by the pediatric gastroenterologist, which most likely included testing for antibodies to tissue transglutaminase, as well as histologic examination of the biopsy specimens, would be instrumental in confirming the diagnosis of celiac disease in this patient.

The patient’s history of a Salter–Harris type 2 fracture of the left fifth finger (possible indirect evidence of osteoporosis — a potential complication of celiac disease¹⁵) in combination with his family history of autoimmune diseases (i.e., type 1 diabetes mellitus in his father and hypothyroidism in his paternal uncle, both of which are often associated with celiac disease^14,15) supports this possible diagnosis. In addition, the endoscopic findings of diffuse, moderately scalloped mucosa that were observed in the duodenum are very suggestive,¹⁶ but not diagnostic,¹⁷ of celiac enteropathy.

Although celiac disease is a likely diagnosis in this patient, there are two features of this case that need to be explained. First, when the patient was 5 years of age, a screening test for celiac disease was negative. Nevertheless, contrary to outdated evidence, loss of tolerance to gluten among persons who are genetically at risk for celiac disease does not always occur at the time of first exposure; rather, it can occur later in life as a result of additional environmental factors, including changes in the composition and function of the intestinal microbiome.^14,15 Second, we need to explain this patient’s clinical worsening after he underwent esophagogastroduodenoscopy — particularly his fatigue, heavy breathing, and dizziness when walking. Even more worrisome is the report that 11 days after his esophagogastroduodenoscopy, syncope occurred when the patient got up from bed in the early morning to use the bathroom. This clinical evolution suggested the possibility that, in addition to celiac disease, a metabolic cause of his symptoms could be part of the clinical picture. On the basis of his history, clinical findings, and laboratory test results, diabetic ketoacidosis, renal tubular acidosis, hypercalcemia, and other rare causes of acidosis or alkalosis can be reasonably ruled out, leaving adrenal insufficiency as a metabolic disorder that could be contributing to his symptoms and more recent clinical deterioration.

Adrenal Insufficiency

Adrenal insufficiency is a rare disorder that can be a primary or secondary illness.^18–21 Addison’s disease, the common term for primary adrenal insufficiency, occurs when the adrenal glands are damaged and cannot produce an adequate amount of the hormone cortisol. The adrenal hormone aldosterone may also be lacking. Addison’s disease affects 110 to 144 of every 1 million people in industrialized countries.²² Secondary adrenal insufficiency occurs when the pituitary gland fails to produce an adequate amount of corticotropin, a hormone that stimulates the adrenal glands to produce cortisol.^18–21 Secondary adrenal insufficiency is much more common than Addison’s disease. This patient had several common signs and symptoms of adrenal insufficiency (Table 2). It is noteworthy that some key features were either not reported (e.g., craving for salty foods) or not detected (e.g., hypoglycemia and elevated blood potassium level). An intriguing aspect to be considered in this case is related to the hyperpigmentation or darkness of the skin, which has been reported to be a typical sign of adrenal insufficiency.^18–21 The skin of this patient was reported to be markedly tan, most notably on light-exposed areas, including the face. This feature could be explained by the fact that he had recently returned from a beach vacation; however, he had used sunscreen and an umbrella for protection from the sun.

Table 2.

Signs and Symptoms of Adrenal Insufficiency.^*

Signs and Symptoms of Adrenal Insufficiency	Signs and Symptoms Present in This Patient
Most common symptoms
Chronic or long-lasting fatigue	Yes
Muscle weakness	Yes
Loss of appetite	Yes
Weight loss	Yes
Abdominal pain	Yes
Other symptoms
Nausea	Yes
Vomiting	Yes
Diarrhea	No
Low blood pressure that drops further when a person stands up, causing dizziness or fainting	Yes
Irritability and depression	Yes, after hospital discharge
Craving for salty foods	Unknown
Headache	Unknown
Sweating	Unknown
Hyperpigmentation or darkness of the skin	Yes, although confounded by beach vacation
Laboratory signs
Decreased aldosterone level	Unknown
Decreased cortisol level	Yes
Increased corticotropin level	Yes
Decreased sodium level	Yes
Increased potassium level	No
Decreased glucose level	No

^*Adapted from National Institute of Diabetes and Digestive and Kidney Diseases.²³

On the basis of all the aforementioned considerations and the known compatible and noncompatible signs and symptoms, the most likely diagnosis in this patient is the combination of celiac disease and adrenal insufficiency.

DR. ALESSIO FASANO’S DIAGNOSIS

Celiac disease and adrenal insufficiency.

PATHOLOGICAL DISCUSSION

Dr. George Eng: A screening test for celiac disease showed a markedly elevated tissue transglutaminase IgA level in the blood (>300 IU per milliliter; normal range, 0 to 15) that was suggestive of the disease. Histologic evaluation of the patient’s duodenal biopsy specimen (Fig. 2) revealed marked atrophy of the duodenal villi, crypt hyperplasia, and an increased number of intraepithelial lymphocytes (>30 per 100 enterocytes), findings that confirmed the diagnosis of celiac disease (modified Marsh classification 3b [on a scale of 0 to 3c, with 3c indicating complete villous atrophy]).

Figure 2. Biopsy Specimen of the Duodenum.

Hematoxylin and eosin staining of the duodenal-biopsy specimen shows marked atrophy of the duodenal villi (bracket), crypt hyperplasia (white arrows), and an increased number of intraepithelial lymphocytes (>30 per 100 enterocytes, black arrows), findings that confirm the diagnosis of celiac disease (modified Marsh classification 3b).

Additional laboratory test results were obtained after the patient presented to the emergency department. The patient’s basic metabolic panel showed a decreased blood sodium level (113 mmol per liter; normal range, 135 to 145) and an elevated potassium level (5.5 mmol per liter; normal range, 3.4 to 5.0), findings that, in this clinical context, were suggestive of a mineralocorticoid deficiency. Plasma renin activity measured a few hours later, when the sodium level had risen to 116 mmol per liter, was elevated at 44 ng per milliliter per hour (normal range, 0.9 to 2.9); these findings were also consistent with mineralocorticoid deficiency. The late-afternoon blood cortisol level was low (3.7 μg per deciliter [102 nmol per liter]; normal range between noon and 8 p.m., 5 to 15 μg per deciliter [138 to 414 nmol per liter]), despite a markedly elevated blood corticotropin level (1414 pg per milliliter [311 pmol per liter]; normal range, 6 to 76 pg per milliliter [1 to 17 pmol per liter]). Given these laboratory and clinical findings, a diagnosis of primary adrenal insufficiency (i.e., Addison’s disease) was presumptively made and formal testing with an adrenocorticotropic hormone stimulation test was not pursued.

The specific cause of this patient’s adrenal insufficiency was confirmed by the identification of antibodies against 21-hydroxylase, which are normally absent in patients who do not have adrenal insufficiency. The enzyme 21-hydroxylase is essential for the synthesis of both mineralocorticoid and glucocorticoid in the adrenal cortex. Autoimmunity is the most common cause of primary adrenal insufficiency and can be associated with other disorders, such as celiac disease, which was also diagnosed in this patient.^24,25 In addition, levels of very-long-chain fatty acids were normal, a finding that rules out adrenoleukodystrophy in this patient.

DISCUSSION OF MANAGEMENT OF ADDISON’S DISEASE

Dr. Deborah M. Mitchell: When the pediatric endocrinology team evaluated this patient, we determined that he showed many signs and symptoms that were consistent with adrenal crisis. Given that adrenal crisis is a life-threatening emergency, it is critical to administer therapy immediately, without waiting for diagnostic confirmation.²⁶ This patient received 120 mg of intravenous hydrocortisone (100 mg per square meter of body-surface area), followed by an additional 25 mg per square meter every 6 hours during the next 24 hours. In patients with adrenal crisis, hydrocortisone is the standard therapy, since it has both glucocorticoid activity and, at the high doses used in the treatment of adrenal crisis, clinically significant mineralocorticoid activity.²⁷ Given this patient’s severe hyponatremia, the team also paid careful attention to fluid management, with frequent measurements of his sodium level to prevent overly fast correction. Although he had an overnight period of altered mental status, he reported feeling substantially better the next morning once the condition had resolved. On the second day of his hospital stay, his laboratory results confirmed the diagnosis of primary adrenal insufficiency.

During the next few days, the dose of hydrocortisone was gradually reduced to physiologic levels and treatment with fludrocortisone was added for mineralocorticoid replacement. Given the patient’s personal and family history of autoimmunity, testing for antithyroid antibodies was performed; the antibodies were not detected. We discussed the option of testing for beta-cell antibodies to estimate his risk of type 1 diabetes, but he and his family declined this testing.²⁸ On hospital day 5, he was discharged home.

As an outpatient, he had disabling fatigue, particularly in the afternoon, and for several weeks, he was unable to attend school for a full day. He also had episodes of extreme anger with his family that were very uncharacteristic of his usual behavior. We made several adjustments to his treatment regimen, including slight increases in his total daily dose of hydrocortisone as well as alterations in the timing of administration. Because of the short half-life of hydrocortisone, treatment is typically divided into three or four daily doses, and the highest dose is typically given early in the morning to mimic endogenous circadian rhythms.²⁹ In growing children, hydrocortisone treatment is preferred over longer-acting glucocorticoids that may suppress growth.³⁰

Ultimately, the patient began to feel better and is now back at school and engaged in his usual athletic activities. Altered quality of life is common among patients with primary adrenal insufficiency, with symptoms that can include fatigue, irritability, and apathy.^31,32 Current treatment options do not replicate the pulsatile nature or the circadian rhythms of endogenous cortisol production, which may contribute to the impairment in quality of life.³³ Several new treatments that are in development may offer better options for patients in the future.^34,35

DISCUSSION OF MANAGEMENT OF CELIAC DISEASE

Dr. Leonard: The patient was referred to the Center for Celiac Research and Treatment for management of celiac disease.

At a patient’s initial visit, we start by confirming the diagnosis of celiac disease by reviewing the serologic test results and histologic findings. In this case, both were consistent with celiac disease. In pediatric patients with newly diagnosed celiac disease, we assess growth and ensure that all recommended tests for such patients are performed. These include measurement of the 25-hydroxyvitamin D level, screening for anemia (complete blood count and levels of ferritin, iron, and total iron-binding capacity), tests of liver function, and screening for thyroid disease; we also check whether the patient has been immunized against hepatitis B virus.³⁶ We counsel patients regarding the signs and symptoms of other autoimmune diseases, since they have a higher risk of other associated conditions.

Most important, patients who are referred to our facility meet with a dietitian to learn about the treatment for celiac disease — the gluten-free diet. Specifically, they learn how to read food labels and minimize exposure to gluten inside and outside their home. Patients are advised to wash cookware and utensils that were used to prepare gluten-containing foods, to clean any shared surfaces before preparing gluten-free foods, to store gluten-free products separately from foods containing gluten, to use squeeze bottles for condiments, and to use separate food containers from those of persons who are not following a gluten-free diet, among other things. Patients are counseled regarding adequate intake of calcium and vitamin D and about routine vitamin supplementation.³⁶ Since gluten-free grains are not fortified with B vitamins and folate, most children are advised to supplement their diet with a multivitamin.

Additional considerations for patients with newly diagnosed celiac disease include learning to navigate eating at restaurants safely and, depending on the patient’s age, initiating a formal plan (according to Section 504 of the Rehabilitation Act) to ensure that the child is supported and has gluten-free options at school. In addition, we recommend that first-degree family members be tested for celiac disease with a blood test to screen for tissue transglutaminase IgA and if positive, that the family member be referred to a gastroenterologist for confirmatory testing by means of an esophagogastroduodenoscopy.¹⁴

Within 6 months after starting the treatment, the patient felt confident and comfortable with a gluten-free diet. His gastrointestinal symptoms resolved, and he gained 7.9 kg. A repeat esophagogastroduodenoscopy, performed 1 year after the patient had begun the gluten-free diet, confirmed that mucosal healing had occurred and that his celiac disease was in remission. At his most recent visit, 18 months after his diagnosis, he continued to adhere to a gluten-free diet and was doing well; he remained symptom-free, and his growth was on track, as evidenced by both height (158.9 cm) and weight (48.6 kg) at the 60th percentile. He continued to receive hydrocortisone and fludrocortisone and was feeling well.

ANATOMICAL DIAGNOSIS

Autoimmune primary adrenal insufficiency and celiac disease.