LACTOSE INTOLERANCE

C2 GROUP 3
PADILLA, KATHELENE ZENAS PADILLA, SHIELA PADULLO, MARK ISIDORE PAJARIT, ARIANNE PANDAAN, ALEXIS LEOVIC PANGA, RUTH ELIZABETH PAPANDAYAN, ZAINODIN PARAFINA, SIMONELLE

Specific Objectives
At the end of the conference, the students should be able to: Familiarize themselves with the food sources of lactose. Understand how the body normally digest and utilize lactose. Know the difference between lactose intolerance and lactase deficiency. Enumerate and discuss the three distinct clinical syndromes of lactase deficiency.

Enumerate and differentiate the different types of lactose intolerance. Characterize the clinical manifestations of lactose intolerance and correlate the molecular basis of each. Enumerate and discuss the laboratory tests/procedures used to diagnose lactose intolerance.

CASE REPORT
A 54-year old woman from Cebu presented with complaints of abdominal distension and bloating after meals, with increased flatulence and episodic diarrhea of about 1 years duration. These symptoms occur 30 minutes to 4 hours after meals. She knows of no aggravating factors and feels best early in the morning before she eats. Fasting for 8 hours results in complete relief of all symptoms. She has had no nausea or vomiting. She described mild suprapubic cramping and urgency before bowel movements; this discomfort was promptly relieved by defecating.

There is no history of diabetes, previous gastrointestinal injury, foreign travel, skin rash, or previous radiation exposure. Her past history was significant for low back pain; she had sustained a pathological compression fracture of the lumbar spine 15 months ago. At that time, she had been diagnosed as having osteoporosis and was advised to increase her dietary calcium intake. She estimated her average milk consumption for the last 6 months for about 3 cups (24 oz.) per day. Her physical examination was normal and the stool was negative for occult blood. Flexible sigmoidoscopy was performed and was normal.

CASE REPORT: Diagnosis

RESULTS HEMOGLOBIN HEMATOCRIT SERUM ALBUMIN SERUM CHOLESTEROL 15 g/dL 46% 4.5 g/ dL 210 mg/dL NORMAL RANGE 14-16 g/dL 44-50% 3.8-4.8 g/dL <200 mg/dL INTERPRETATI ON NORMAL NORMAL NORMAL SLIGHTLY ELEVATED

SERUM 35.7 g/dL 20-60 g/dL NORMAL *Normal hemoglobin, hematocrit, albumin, cholesterol, and -carotene levels CAROTENE indicate malabsorption of iron, amino acids, and fat is not occuring. *Celiac disease Iron deficiency and anemia; and low levels of serum cholesterol and -carotene

STOOL OVA & PARASITE TEST GIARDIASIS (Giardia lamblia) AMOEBIASIS (Entamoeba histolytica)

RESULTS NEGATIVE NEGATIVE

Stool test for ova and parasites allows exclusion of infectious etiologies, such as giardiasis and amoebiasis, which often present with similar symptoms.

Other exclusion tests:

Other DISEASE/S FECAL LEUKOCYTES TSH LEVELS POSITIVE (Crohns dse.) or TSH levels (Hypo/hyperthyroidim) POSITIVE (Colonic Polyps & Cancer) LACTOSE INTOLERANCE NEGATIVE NORMAL

FECAL OCCULT BLOOD TEST

NEGATIVE

FOOD SOURCES

MILK CHEESES
- Soft cheeses - Hard cheeses (lower lactose content & often welltolerated)

YOGURT ICE CREAM Other milk or dairy products

Lactose digestion and utilization

LACTASE DEFICIENCY vs. LACTOSE INTOLERANCE

Lactose intolerance - inability to digest and absorb lactose that results in gastrointestinal symptoms when milk or food products containing milk are consumed - diagnosis of lactose intolerance is made only when reduced amount of lactase causes symptoms. Lactase deficiency - there is not enough lactase in the small intestine to digest lactose - deficiencies of lactase often have no symptoms after the ingestion of milk

3 DISTINCT CLINICAL SYNDROMES OF LACTASE DEFICIENCY:

1. Congenital Lactase Deficiency 2. Primary Lactase Deficiency 3. Secondary Lactase Deficiency

Congenital Lactase Deficiency

rare, inherited as an autosomal recessive trait inability of the genes in the newborn to produce enough lactase or nothing at all abnormal absorption of lactose and other disaccharides from the gastric mucosa characterized by severe diarrhea, abdominal pain, vomiting dehydration, renal tubular acidosis, aminoaciduria, liver damage, lactosuria, cataracts and distention that appear soon after birth when the diet begins to contain lactose

Congenital Lactase Deficiency

*Familial Lactase Deficiency - a type of congenital lactase deficiency that resulted from a defective lactase enzyme protein - level of lactase enzyme production is normal BUT lactase is deemed dysfunctional and ineffective

Primary Lactase Deficiency

aka Late Onset Lactase Deficiency or Adult Lactase Deficiency referred to those people who do not produce enough lactase after weaning most popular and accounts for more than half the world population enzyme levels are highest shortly after birth and decline with aging, despite a continued intake of lactose

Primary Lactase Deficiency

*Developmental Lactase Deficiency - other type of primary lactase deficiency resulting from low lactase levels and is a consequence of prematurely born babies - hence, a prematurely born baby will acquire lactose intolerance due to lack of enzyme production

Secondary Type Lactase Deficiency

can result from small intestine resections, and from gastrorectomy and from diseases that damage the intestinal epithelium, e.g. untreated coeliac disease or intestinal inflammation another source is a long course of antibiotics

DIFFERENT TYPES OF LACTOSE INTOLERANCE

Congenital lactose intolerance - selectively adult type - lactase enzyme synthesis is reduced - autosomal recessive trait - chromosome 2 mutation: shut down oflactase production

Primary lactose intolerance - hypolactasia - adult-type lactase deficiency - lactase non-persistence - begins at 2-3 years of age Secondary lactose inolerance - gastrectomy, celiac disease, intestinal inflammation - occur at any age - common in infancy

Clin manifestxn Molec basis

Diagnostic Tests
TRIAL OF LACTOSE WITHDRAWAL first diagnostic test
Administer

500 mL of milk and measure the blood glucose level. An increase of less than 9 mg/dL indicates lactose malabsorption.

If this does not result in complete relief of symptoms, the following tests should be performed:

1.

BREATH HYDROGEN TEST gold standard based on determination of hydrogen (H2) in expired air after an oral dose of lactose based on metabolism of undigested lactose by colonic bacteria amount of breath H2: >20 ppm above the zerotime level supports the diagnosis of lactase deficiency its results cannot be extrapolated to indicate that a patient will necessary be symptomatic if lesser or more physiologic quantities of lactose.

2.

ORAL LACTOSE TOLERANCE TEST Measure serial blood glucose levels after an oral lactose load. A fasting serum glucose level is obtained, after which 50 g of lactose is administered. Measure the serum glucose level at 0, 60, and 120 minutes. The lactose tolerance test has a sensitivity of 75% and a specificity of 96%. HYPOLACTASIA: rise in blood glucose of <1.1 mmol/L (20 mg/dL) LACTOSE PERSISTENCE: rise in blood glucose of >1.7 mmol/L (30 mg/dL)

3.

LACTOSE-ETHANOL LOAD TEST measure blood galactose and is a more specific test for lactase activity. Hypolactasia is indicated by a blood galactose level of less than 0.3 mmol/dL

4.

QUANTITATION OF SMALL BOWEL LACTASE ACTIVITY performed on tissue sample obtained from distal duodenum by endoscopy or jejunal biopsy. most accurate useful for research purposes, but seldomly used clinically.

Treatment
Medical Care Dietary adjustment is the primary form of therapy for patients with lactose intolerance.
Advise patients to reduce or restrict products containing lactose. Yogurt and fermented products, such as cheeses, are better tolerated than regular milk. Soy-based milk or food products are well tolerated.

Lactase enzyme preparations (eg, LACTAID, Lactrase) reducing symptoms Supplemental calcium In secondary lactase deficiency, treatment is directed at the underlying cause.

Complications Complications of lactose intolerance may include osteopenia. Prognosis Excellent with dietary restrictions.

Patient Education Instruct patients to read labels on commercial products. Whole milk and chocolate milk may be better tolerated than skim milk.