Symptoms 

• Tiredness
• Discomfort, dyspepsia, diarrhea,  weight loss
• Symptoms of anemia- tiredness
• Features of malabsorption – oral ulceration 
• Association: nephrotic syndrome (IgA nephropathy)

 

Investigation 

1. Screening by serology: Antibodies (EAT)

• • Anti-Endomysial antibody IgA class ( by immunofluorescence)  → if IgA deficiency → IgG

• • Anti-tTG antibody  

• •  easier, semi quantitative, more accurate in patients with IgA deficiency

• • Serum IgA level 

 

     2. Confirmation by endoscopy with Duodenal biopsy

• • Gold standard
  • 4 from second part plus one from duodenal bulb
  • Histology: villous atrophy, crypt hyperplasia, inflammatory infiltration in lamina propria

    3. Hematology & biochemistry 

• • CBC, PBF → micro(iron)/macro(folate) anemia, 

                                         → f/o hyposplenism- (TSH) target cell, spherocytes, Howell-Jolly bodies 

• • Ca – reduced ( vit D deficiency) 
  • PO4 – reduced (secondary hyperparathyroidism) 
  • Mg, total protein, Albumin, vit D – reduced
  • Serum IgA 
  • Iron profile- reduced iron
  • RBC folate assay- reduced 
  • S. Vit B12 – usually normal

    4. Others

• • BMD- osteopenia, osteoporosis 
  • ALP- raised ( due to osteomalacia)
  • S. Bilirubin- mildly increased (microcytic)
  • SGPT- normal

 

Management:

• General management 
  • Correction of deficiencies – micronutrient- iron, folate, calcium, vit-D

• Gluten free diet:

1. 1. Exclusion of wheat, barley, rye oats 
   2. Oats may be reintroduced safely after 6-12 months
   3. Frequent dietary counseling 
   4. Provision of dietary booklets
   5. Regular dietetic follow up

• Refractory Coeliac Disease (RCD) – who fail to respond to dietary measures 

1. 1. Require therapy with glucocorticoids or IST
   2. RCD is two types: 

(a) type 1: normal intraepithelial lymphocyte (IEL) phenotype →5 year survival – 90% 

(b) type 2: abnormal expansion of IEL → 5 year survival- 50%

 

Follow up: after gluten free diet initiation

1. Symptoms assessment 
2. Weight 
3. Nutritional status
4. Blood for tTG or anti-endomysial antibody
5. Repeat biopsies – when

• •  symptoms fail to respond
  • antibody level remain high

 

Complication:

1. Enteropathy associated T cell lymphoma
2. Small bowel carcinoma 
3. Squamous carcinoma of esophagus 
4. Ulcerative jejuno-ileitis- 

• • fever, pain, obstruction, perforation 
  • Inv: barium study, enteroscopy, laparotomy with full thickness biopsy
  • Treatment : steroid,  surgical resection,  parenteral nutrition 

5. Osteoporosis & osteomalacia

 

Follow up: (Harrison)

1. Serologic follow up
2. F/U biopsy→ complete healing of villus atrophy

 

[Diarrhea, weight loss, and growth failure in children are common presenting complaints, but additional signs and symptoms have become increasingly recognized to be associated with celiac disease, including bloating and irregular bowel habits, migraine headaches, and ataxia. In addition, patients may be identified after presenting with osteoporosis, iron-deficiency anemia, or detection of abnormal liver enzymes.

Nonceliac Gluten Sensitivity Recently a subset of patients has been described with symptoms consistent with celiac disease but with negative serology and negative biopsies. Upon discontinuation of gluten, they have relief of abdominal pain, diarrhea, headaches/migraines, and other celiac disease–type symptoms. The etiology of this disorder is unknown.]

 

SAQ. A 28-year-old male with 6 months H/O generalized abdominal discomfort, diarrhea & weight loss of 7 kg comes to you with right loin pain. On exam, he is pale, bipedal oedema & right loin tenderness is present. Hb 9 g/dl, TC 4600/mm?, corrected Ca 2.02 mmol/l, Na 138 mmol/l, K 4 mmol/l, urine RE +++ protein, Albumin 3 g/dl, IgA<0.1 g/l, Anti-endomysial Ab absent.

 

Q.  What’s the complete Dx? Reasoning behind Dx?

• Right renal vein thrombosis due to IgA nephropathy with Coeliac disease.

 

Reasoning

• H/O generalized abdominal discomfort, diarrhea & weight loss of 7 kg, pale, Hb 9 g/dl  →Coeliac disease.
• Bipedal oedema, urine RE +++ protein, Albumin 3 g/dl  → Nephrotic syndrome (IgA nephropathy)
• Right loin pain & tenderness →Right renal vein thrombosis

 

Q. Mention 3 important investigations for Dx.

1. tTG assay
2. Upper Gl endoscopy with histopathology 
3. Renal biopsy with histopathology
4. Duplex US of abdominal vessels

 

SAQ/OSPE. A 45 yrs old woman presented with relapsing watery diarrhea & chronic abdominal pain. She denies any relevant drug history. On examination, the patient is cachexic & moderately anemic having koilonychia, clubbing & bilateral pitting oedema but no lymphadenopathy. Her RBS 6 mmol/L.

 

Q. Mention 4 (four) important history to evaluate her

1. Mouth: Dietary history
2. Abdomen: Characteristics of abdominal pain 
3. Rectum: Characteristics of stool/steatorrhoea/ bloody diarrhea
4. Systemic: Fever, weight loss, weakness, joint pain etc

 

Q. List additional 6 (six) important clinical signs for this patient

• Anemia, jaundice, leukonychia, koilonychia, edema, dehydration
• Angular stomatitis, cheilosis, glossitis
• Mouth ulcer/episcleritis/conjunctivitis/iritis (MECI)
• Abdomen: tenderness, palpable mass, ascites, tender/non-tender hepatomegaly
• Skin: hypopigmentation, petechiae/purpura
• Acrodermatitis enteropathica/Follicular hyperkeratosis
• Muscle wasting & proximal myopathy
• Peripheral neuropathy & F/O SCD
• Erythema nodosum/Pyoderma gangrenosum 
• Tender joint, inflammatory back pain 
• DVT

 

Q. List 6 (six) important investigations for this patient

• CBC, PBF, ESR, CRP, S. Ca/albumin/iPTH/iron profile/Vit B12, RBC folate assay
• Fecal calprotectin
• S. anti-tTG, anti-endomysial antibody, Serum total IgA level
• UGI endoscopy with duodenal biopsy/lleo-colonoscopy with biopsy for histopathology
• Small gut imaging: Barium follow through, MRI enterography, Double balloon or capsule enteroscopy

 

SAQ. A 40-year-old woman presented with low back pain for 10 days. X- ray lumbosacral spine shows collapse vertebra L2 and 13, increased gap between vertebras. On further asking, she tells about recurrent non bloody diarrhea for 1 years. She is anemic, pedal edema present, some itchy rash over the elbow, lumbar movement restricted.

 

1. What is the most likely diagnosis?
2. How would you like to investigate her? 3. Mention treatment principle for her.

(Answer yourself)