Health Awareness blog

 Essentials Of Diagnosis

·         Typical symptoms: Weight loss, chronic diarrhea, abdominal distension, growth retardation

·         Atypical symptoms: dermatitis herpetiformis, iron deficiency anemia, osteoporosis

·         Abnormal serologic test results

·         Abnormal small bowel biopsy

·         Clinical improvement on gluten-free diet

Coeliac disease is a condition where the intestine is sensitive to glutein-containing foods. It is also known as sprue, gluten enteropathy or celiac sprue.  It is a permanent dietary disorder characterized by intestinal malabsorption.  It can cause chronic diarrhea or maybe not. Non diarrhea form of celiac disease is characterized by villous atrophy and leads to vitamin and mineral malabsorption.

                This disease is mainly seen in Northern Europe with female predominant to male in 3:2 ratio. The prevalence is about 1 in 120-300 persons in North America. Suspicion of celiac disease should be raise in failure to thrive or pregnant women with severe anemia (if no other cause can be found). First degree relatives have 10% incidence and 71% incidence in monozygotic twins.

Signs and symptoms:

·         Diarrhea

·         Steatorrhea

·         Muscle cramps

·         Iron deficiency anemia

·         Nervousness

·         Weight loss

·         Failure to thrive (slow velocity of weight gain or short stature)

·         Generalized weakness

·         Lassitude

·         Fatigue

·         Large appetite

·         Abdominal distension

·         Explosive flatulence

·         Abdominal pain with nausea and vomiting (rare)

·         Recurrent apthous stomatitis

Blood investigations and imaging:

·         Liver function test – elevated liver enzymes, decrease total protein

·         Full blood count -anemia

·         Positive IgA antiendomysial antibodies and IgA transglutaminase during normal diet (non gluten free diet) – test sensitivity 90-98%, specificity 98%

·         False negative IgA ti-endomysial and IgA ti-translutaminase antibodies in patients with IgA deficient

·         72 hour fecal fat (>7% fat malabsorption)

·         D-xylose test – malabsorption of this sugar

·         Coagulation profile – increase PT (prothrombin time)

·         Decrease calcium, neutral fats, cholesterol, vitamin (A, B12, D, C, folic acid), iron

·         Barium swallow – flocculation of barium, edema and flattening of mucosal folds

·         Endoscopy with diagnostic biopsy of the duodenal mucosa (shows flattened villi, hyperplasia, lengthening of crypts, infiltration of plasma cells and lymphocytes in lamina propria). To confirm the diagnosis, biopsy should be done with a gluten free diet, and the result should be normal.

·         Repeat endoscopy after 6-8 weeks to monitor selective cases.

Some differential diagnosis that should be considered:

·         Short bowel syndrome (patient may underwent surgery of bowel resection)

·         Pancreatic insufficiency

·         Crohn disease

·         Whipple disease

·         Hypogammaglobulinaemia

·         Tropical sprue

·         Lymphoma

·         AIDS

·         Acute enteritis

·         Giardisis

·         Eosinophilic gastroenteritis

·         Pancreatic disease

Treatment and management:

Most of the times the patient can be manage at outpatient setting. Consider pneumococcal vaccination because hyposplenism is common in this group of patient. The patient should take gluten free diet. Rice, corn and soybean flour are safe.

Medications should only be prescribed if diet treatment is failed. Patient will be prescribed prednisolone (40-60mg daily). In refractory sprue, consider corticosteroids and immunosuppression with azathioprine, cyclosporine (and ?infliximab in the future). Steroid is contraindicated in tuberculosis, fungus or herpes infections. Precaution should be taken in congestive heart failure, diabetes, peptic ulcer and myasthenia gravis.

Some gluten rich diet that should be avoided:

·         Wheat

·         Rye

·         Barley

·         Food contains gluten additives

Complications:

·         Malignancy is less 10% of patients (50% if the patients have small bowel lymphoma)

·         Refractory sprue – in some patients, the disease may evolve and become refractory to the gluten free diet

·         Chronic ulcerative jejunoileitis –this is associated with multiple ulcers, intestinal bleeding, strictures, perforation, obstruction and peritonitis. It has 7% mortality

·         Osteoporosis (secondary to calcium and vitamin D depletion)

·         Dehydration

·         Electrolyte depletion

·         Refractory sprue cases may need total parenteral nutrition

·         Death (rare)

Summary:

The prognosis is excellent if patient is appropriately diagnose and compliance to gluten free diet. Usually, patient will feel better in 7 days and all symptoms usually disappear in 4-6 weeks after change their diet.  

References:

1.       The 5-Minute Clinical Consult. Frank J Domino. 16th edition. 2008.

2.       Current Medical Diagnosis and Treatment. Lange Mc Graw Hill. 2009.

Failure to thrive means poor weight gain in infancy and early childhood. In the other hand, if we plot the growth chart, the weight crosses centile lines in a downward position. The birth weight might be normal however normal weight gain does not occur. If the problem is prolonged, the height ad head circumference will be affected.

Some clinical features that can be found are thin or wasted buttocks. There is also loss of subcutaneous fat with poor muscle bulk. In malabsorption cases, abdominal distension will be common. Occasionally, the child also presents with rickets due to vitamin D deficiency. All cases of failure to thrive will have abnormal growth chart.

How to observe growth and failure to thrive??

• Behavior and activity level. Either the child is active or not.
• We have to see the general health of the baby. The baby might easily get sick, frequent fever, etc. Happiness of the child might influence this growth.
• We have to look for any signs of abuse. The child might not get proper attention by care taker and might even be neglected, do not get enough food, etc.
• Family finances also give a big influence. Poverty is the chief problem where this child might have difficulty at home, food and emotion deprivation and even unskilled feeding techniques by care taker (this problem often is seen in developing countries.
• Family height charting also should be needed. If both parents are small size, we cannot expect the child to be big and tall.
• A growing child needs a lot of nutrition and energy for body and brain growth. Hence the feeding patterns also play an important role. For example, frequent feeding up to 3 hours is essential for baby less than 6 months.
• Any parental illness
• Dysmorphic baby (baby with chromosomal abnormality) also might influence a child growth.

Causes of failure to thrive:

In terms of investigation, dietary assessment is the most important part. Blood investigations may be needed in few cases to look for anemia and electrolytes. Anemia and steatorrhoea are suggestive of malabsorption. In rare case like cystic fibrosis, sweat test may be done. Cystic fibrosis is more common in Western countries. For the diagnosis of celiac disease, jejuna biopsy will be indicated.

            Management of each case will be different depending on the causes of failure to thrive; adequate nutrition is enough for vast majority of patients that have poor oral intake. Failure to thrive needs early intervention. The first few years of life is very important for the child’s growth and developmental, if the child do not get enough nutrition, it will only affects the growth of important organs like brain, but may also lead to developmental delay.

Reference:

•  
  1. Quick Reference Cards by Medical Protection Society. 2001.
  2. Oxford Handbook of Clinical Specialties. 5^th edition. 2001.
  3. Paediatrics color guide. Churchill Livingstone. 2d edition. 1997.