An intresting case of gastroentrology

Patient details:

Patient Ms. S Age 40 years Resident of Central India

Presenting complaints

Pain & discomfort in abdomen- 30 years Frequent loose motions – 30 years Feeling of weakness and malaise- 25

years Low grade fever- 20 years Body ache and Joints pain- 20 years Dark Patches over face- 5 years

H/O Present illness

Patient is not comfortable about her abdomen since her remembrance . she feels bloating of abdomen, gurgling and pain on and off . Pain is generalized, with no diurnal

variation and not associated with vomiting.

Pain is aggravated after food consumption and is not relieved after motion

She is also having loose motions on and off . It is generally semisolid

Associated with mucus Never had blood in stool Some time mal odorous Frequency 6 to 8 per day some time quantity is large

Symptoms aggravated by

Milk Spicy food High calorie food Fried and junk food

Patient and her relative noticed a yellowness in her complexion

She feels exhausted most of the time Her weight is always on lower side Since last 10 years she also

complaining of generalized body ache and joint pains. Which involves small joints of fingers wrist elbow and shoulders. Which is associated with morning stiffness, More in winters .

History of past illness

No h/o diabetes, hypertension, hyperuricemia, blood transfusions

Family history Mother – Severe Rheumatoid arthritis

Personal history Nothing significant

General examination

G.C- Good Pallor + Pulse- 72/min Resp-

18/min BP- 106/74 mm of Hg N.V.-Not

engorged N.G. –Not palpable JVP – Not

raised No edema, Jaundice, cyanosis or clubbing Pigmentation over forehead and face.

Systemic examinationGIT- NAD R/s –NADGIT- NAD R/s –NAD

CVS- NAD CNS - NADCVS- NAD CNS - NAD

Investigations -blood picture Hb- 8.4 gm % TRBC - 3.9 million cu.mm TWBC – 10500 DWBC – P-47, L-51, m-2% E- nil Platelets – adequate Anemia typing- Normocytic

hyprochomic No immature cells seen No MP seen

Stool- Fat +ve Mucus & Blood -ve USG –NAD Urine –NAD X-Ray chest- Normal Serum Uric Acid- 4.1 mg/dl R.A Factor –ve HIV- Nonreactive Thyroid function tests – WNL Serum Calcium- 7.8 (Normal 8.5 to 10.5 mg/dl) High sensitivity C-reactive protein- 0.47

mg/dl ( Normal less than 0.3 mg/dl)

Anti CCP

Anti nuclear antibody

Hemoglobin elecrophoresis

Tissue Transglutaminase antibody

Vit. B-12 level

Upper & Lower GI endoscopies

Biopsy from IInd part of duodenum

What can be the diagnosis

Coeliac disease with early sero negative rheumatoid arthritis

Final Diagnosis

Coeliac disease- Introduction CD is a common chronic inflammatory bowel condition

characterized by mal absorption abnormal small bowel histology and intolerance to gluten and prolamines found in wheat, barley and rye.

Gliadin is a protein found in wheat and barley is water insoluble

The disease multifaceted in nature with variable clinical presentation ranging from GI manifestation to asymptomatic silent and extra intestinal forms

It may present from first year of life till 8th decade CD in children and non tropical sprue in adults are

probably the same entity Dermatitis Herpetiformis a bullous skin disease is also

known to be induce by Gluten. Untreated CD is associated with high morbidity and

increase mortality

Coeliac disease

Coeliac disease is not an allergy or simple food intolerance.

In fact it's an autoimmune disease, where the body's immune system attacks its own tissues.

In people with coeliac disease this immune reaction is triggered by gluten, a collective name for a type of protein found in the cereals wheat, barley and prolamines in rye. A few people are also sensitive to oats.

In coeliac disease, eating gluten causes the lining of the gut (small bowel) to become damaged and may affect other parts of the body.

Possible symptoms include:

bloating, abdominal pain, nausea, diarrhoea, excessive wind, heartburn, indigestion, constipation

any combination of iron, vitamin B12 or folic acid deficiency

tiredness, headaches weight loss (but not in all cases) recurrent mouth ulcers hair loss (alopecia) skin rash (dermatitis herpetiformis- 'DH') defective tooth enamel osteoporosis depression infertility recurrent miscarriages joint or bone pain neurological (nerve) problems such as ataxia

(poor muscle co-ordination) and neuropathy (numbness and tingling in the hands and feet).

Median age for diagnosis of CD In adults- 4th and 5th decade Median delay in diagnosis ranges

from – 5-11 years in developed

countries In India 30-40 years

Etiology

Unknown Environmental Immunologic and Genetic factors

contributes to the disease.

Types

Classic Type- Silent or Atypical form present with

non specific abdominal pain, esophageal reflux, osteoporosis, Cryptogenic hypertrans aminasimia, insulin dependent DM or Neurological symptoms

Diagnosis of CD

Prevalence 0.5 to 1 % 1 in 113 people in Europe Most Common in Whites of North European

ancestry PGI Chandigarh data is around 1% in India Ratio of undiagnosed to diagnosed in children is

7:1 and in adult is 68:1 The prevalence of CD was 1:22 for first degree

relative and 1:39 for second degree relatives. All Patients with CD express HLA-DQ2 ALLELE

though only a minority of patients express DQ2 have CD

Absence of DQ2 excludes the diagnosis of CD

Serological Markers

IgA and IgG anti Glidnin anti bodies (Predictive values +ve and –ve more than 96%)

IgA antiendomysial antibody( 92 to 95 % )

IgA tissue transglutaminasse antibody Antibody negative CD also exist if

patients are IgA deficient (6.4% of all cases)

Histopathological findings Gold standard for diagnosis is villous

atrophy on duodenal biopsy Marsh’s histological grade Grade 0- Normal duodenal mucosa Grade-I – Increased intraepithelial lymphocyte count Grade-II- Grade I + Crypt

Hyperplasia Grade III- Grade I+ grade II+ villous

atrophy

Course of the disease

Started with anaprashan Spontaneous remission Reappears in second decade of life. Remission and exacerbation known

Treatment

Gluten free diet Supportive and symptomatic

Gluten Containing foods

complications

GI and Non Gi neoplasams Intestinal lymphomas intestinal ulcers collegenous sprue

Many faces of CD

Symptoms of Malabsorptive disorders

Tests useful in diagnosis of Malabsorption

My experience