Dysgerminoma

"I feel punk," said the 69-year-old male seeking medical care for the first time in several years. He complained of having a vague sense of "not feeling well" for several months. He had bowel urgency, increased eructation, and a decreased appetite for several years. He denied weight loss, nausea, vomiting, constipation, diarrhea, dysphagia, hematemesis, or melena. His only other complaint was a sore on his back that "bled sometimes".

His past medical history was significant for an undescended left testis that was removed, and a dysgerminoma noted on pathology. He received radiation therapy in 1954 for this condition. He had an appendectomy as a teenager, but otherwise had no significant medical problems and had not seen a primary care provider or been to the emergency room in many years. Family history was noncontributory.

On the physical exam, his conjunctivae were pale, abdominal exam was benign, and the rectal exam revealed a large prostate with hemoccult negative stool. The lesion on his back was 8x3 cm and raised 0.5 cm with hypergranulation tissue that was friable. The initial evaluation included chest radiography, serologic studies, urinalysis and hemoccult.

He had a hemoglobin of 8.33g/dl and the hematocrit (Hct) was 31.3 percent. The mean corpuscular volume (MCV) was 64.8 fl. His ferritin was 3.8 ng/ml, TIBC 412 meg/dl, iron 12 mcg/dl, folate 5.4 ng/dl, and B^sub 12^ 301 pg/ml. The hemoccult cards returned were positive in one of three. The chemistry and liver panel were normal with the exception of the alka-line phosphatase, which was 144 IU/L. The chest radiograph, prostate specific antigen and urinalysis were all normal.

He was referred to the plastic surgery service for biopsy of the back lesion. He was also referred to gastroenterology for a colonoscopy to rule out colon cancer and to help determine the etiology of anemia.

The plastic surgeon resected the lesion on the patient's back after the punch biopsy revealed basal cell carcinoma. An 8x3x1 cm area was resected with clean margins. The colonoscopy revealed three hyperplastic polyps that ranged in size from 3 to 5 mm. There was nothing to suggest a cause of the anemia. He underwent an esophagogastroduodenoscopy (EGD), which revealed a diffusely nodular duodenum that was reported on biopsy to be consistent with celiac sprue. Serologic studies for endomysial and gliadin antibodies were performed with both returning strongly positive. The patient was placed on iron and given instructions for a gluten-free diet.

Three months after beginning this diet and iron replacement, the patient reported feeling "much better," and he had a hemoglobin and hematocrit of 12.1 g/dl and 41.5 percent, respectively. After a year, he had no anemia and was doing well. However, he found the diet difficult to maintain because of the multitude of foods that contain gluten.

Introduction

Celiac sprue, also known as gluten enteropathy or celiac disease, is characterized by diffuse injury to the proximal small bowel resulting in malabsorption of most nutrients. The mechanism is not clear, but resolution of the symptoms and the small bowel histologic changes occurs with the use of a gluten-free diet.

Epidemiology

In the past, this condition was diagnosed in infancy, but has recently been noted in older patients. The incidence is highest in European countries and countries with European immigrants, such as Australia and the United States. The incidence rate was reported as 1 in 250 in the U.S. when serologic screening of a blood donor population was used.1 An earlier study found the prevalence rate at 1 in 5000, raising the question of whether there are undetected cases or if not all serological positive patients develop symptoms.2

Diagnosis

Most adult patients report diarrhea, flatulence, weight loss and weakness. Stools are usually loose, soft, oily or greasy, and foul smelling. Elderly patients may have few gastrointestinal symptoms, and may only present with vague constitutional symptoms and physical findings related to vitamin deficiency such as glossitis or angular stomatitis. Approximately 50 percent of adult patients with celiac sprue have no diarrhea.3

The physical exam may be normal, but can reveal loss of muscle mass, pallor, bruising from vitamin K deficiency, or hyperkeratosis due to vitamin A deficiency. The abdominal exam may reveal distention and hyperactive bowel sounds. Laboratory abnormalities include iron deficiency anemia, and in more advanced cases, folate deficiency. Hypocalcemia or elevated alkaline phosphatase may be pre-sent, reflecting impaired calcium and vitamin D absorption. Elevated protime or a decreased serum betacarotene can reflect malabsorption of the fat soluble vitamins.

The American Gastroenterological Association suggests that the diagnosis of celiac sprue is made when specific villous abnormalities are noted upon small intestinal biopsy.4 This diagnosis is confirmed when the villous architecture is improved on biopsy while the patient has been on a gluten-free diet and has had a positive clinical response.

The pathology report is similar in other conditions including tropical sprue, bacterial overgrowth, milk intolerance, viral gastroenteritis, eosinophilic gastroenteritis, and mucosal damage caused by gastrinoma. Therefore, documentation of clinical response to the gluten withdrawal is essential to the diagnosis.

Serologic Tests

Specific serologic tests may be beneficial in screening patients with minor symptoms. Intestinal biopsy is necessary to diagnose this disorder, but serologic screening may help reduce the number of endoscopies performed. Gliadin is a component of wheat gluten that initiates mucosal damage in patients with a genetic predisposition. Dieterich reported tissue transglutaminase is the autoantigen that stimulates the response of endomysial and gliadin antibodies.5

The most common serologic studies used to check for celiac sprue include IgA and IgG antigliadin antibodies, IgA and IgG antiendomysial antibodies, and IgA and IgG antitissue transglutaminase antibodies. The IgA antiendomysial antibody has a greater than 90% sensitivity and specificity for detecting untreated celiac sprue.6 The IgG and IgA antigliadin antibodies are present in over 90% of patients with sprue, but are also present in other patients with mucosal diseases. The IgA antiendomysial antibodies become undetectable 6-12 months after following a gluten-free diet, which may make this test useful for surveying treated patients.7

The criticism of using IgA endomysial and IgA antigliadin antibodies alone is that some patients with celiac sprue have an IgA deficiency, so these antibodies are not present, and a false-negative study is noted.

The use of IgG antiendomysial and IgG antitissue transglutaminase antibodies can be used as the test of choice for detecting celiac sprue, especially when there is IgA deficiency.8 Sorrell suggested that testing for IgG antitissue transglutaminase is becoming so precise, it may obviate the need for biopsy.9

Treatment

Treatment of celiac sprue requires removal of all gluten from the diet. Wheat, rye, and barley must be eliminated. It is unclear whether oats can be tolerated, but they should be restricted because of possible wheat contamination. Rice, soybean, potato, and corn flours are acceptable. Patients need to be diligent in reading labels of processed foods, and to be aware of gluten in additives, emulsifiers and stabilizers.10 Symptoms should improve within weeks of initiating the gluten-free diet.

Some patients may require vitamin and iron supplementation, but should not need this long-term if they adhere to the gluten-free diet. Most patients who do not respond to treatment have not adhered strictly to the prescribed diet. In refractory cases, some have advocated use of corticosteroids after other potentially treatable causes have been investigated.4

Patients with celiac sprue generally have a good prognosis, however, it can be associated with other conditions. Ninety percent of patients with dermatitis herpetiformis have celiac sprue; although only 10% of patients with celiac sprue have dermatitis herpetiformis.11 Other conditions associated with celiac sprue include autoimmune disorders such as Addison's disease, Graves' disease, type 1 diabetes mellitus, myasthenia gravis, scleroderma, Sjogren's syndrome, lu-pus erythematosus, and pancreatic insufficiency.

* Summary

Celiac sprue is not just a disease of the young. Clinicians should maintain a high index of suspicion because early symptoms can be nonspecific. Diagnosis is made with intestinal biopsy, but there is hope that patients can be diagnosed with serologic screening as research in this field continues. Treatment with a gluten-free diet results in improvement of symptoms within weeks. These patients should be followed long-term because of the difficulty inherent in maintaining the diet and the myriad of associated disorders.

REFERENCES

1. Not T, Horvath K, Hill ID, et al: Endomysium antibodies in blood donors predicts a high prevalence of celiac disease in the USA. Gastroenterology 1996;110:A351.

2. Talley NJ, Valdouvinos M, Petterson TM: Epidemiology of celiac sprue: a community based study. Am J Gastroenterol 1994; 89:843-846.

3. Farrell R, Kelly C. Diagnosis of celiac sprue. Am J Gastroenterol 2001; 96:3237-3246.

4. American Gastroenterological Association Medical Position Statement: Celiac Sprue. Gastroenterology 2001; 120:1522-1525.

5. Dieterich W, Ehnis T, Bauer M, et al: Identification of tissue transglutaminase as the autoantigen of celiac disease. Nature Med 1997; 3:797-801.

6. Corrao G, Corazza GR, Andreani ML, et al: Serological screening of celiac disease: choosing the optimal procedure according to various prevalence values. Gut 1994; 35:771-775.

7. Trier JS: Diagnosis of celiac sprue. Gastroenterology 1998; 115:211-216.

8. Cataldo F, Lio D, Marino V, et al: IgG (1) antiendomysium and IgG antitissue transglutaminase (anti-tTG) antibodies in celiac patients with selective IgA deficiency. Working Groups on Celiac Disease of SIGEP and Club del Tenue. Gut 2000;47:366-369.

9. Sorrell L, Garrote J, Acevedo B, et al.: One-step immunochroinalographic assay for screening of celiac disease. The Lancet 2002; 359:945-946.

10. Farrell R, Kelly C: Celiac sprue. N Engl J Med 2002; 346:180-188.

11. Otley C, Hall RP III: Dermatitis herpetiformis. Dermatol Clin 1990; 8:759-769.

William Luchtefeld, RN-CS, MSN

Mary S. Burton, MD

Peggy Donavon, BS, ED, RN, MSN

Cheryl Cummings Stegbauer, CFNP, PhD

Clinical Case Report Editor

ABOUT THE AUTHORS

William Luchtefeld is employed at the Department of Veterans Affairs, St. Louis, Mo. At the St. Louis University School of Nursing, he is an Assistant Clinical Professor, Mary S. Burton is an Assistant Professor of Medicine and Peggy Donavon is an Instructor of Nursing.

Copyright Springhouse Corporation Jul 2003
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