Differential Diagnosis and Management of Intestinal Dysplasia and Malabsorption

1. Dr Turdaliev S.O

2. Sania Javed

    Bareerah

(Teacher, International Medical Faculty, Osh state university, Kyrgyzstan.

Students, International Medical Faculty, Osh State University, Kyrgyzstan)

Abstract

Intestinal dysfunction, presenting clinically as malabsorption (defective nutrient uptake) and potentially associated with dysplasia (abnormal cell growth, a precursor to cancer), represents a broad and complex diagnostic challenge.While malabsorption is a common clinical syndrome with numerous causes, intestinal dysplasia refers to a specific histopathological finding indicating a precancerous state, typically found during the workup for chronic intestinal disease or surveillance.

Defining the Conditions

Malabsorption Syndrome: A clinical state resulting from the impaired assimilation of dietary nutrients (fats, carbohydrates, proteins, vitamins, minerals) due to defects in digestion (intraluminal phase), absorption (mucosal phase), or transport (post-mucosal phase) [1.1, 1.4]. Key symptoms include chronic diarrhea, steatorrhea (fatty stools), unintentional weight loss, and signs of nutrient deficiencies (e.g., anemia, osteoporosis) [1.4].

Intestinal Dysplasia: The confirmed presence

Of abnormal, pre-cancerous cellular changes in the epithelial lining of the gastrointestinal tract. In the context of the small and large intestines, it is most frequently encountered in patients with chronic inflammatory conditions like Inflammatory Bowel Disease (IBD), or as a component of congenital syndromes like Intestinal Epithelial Dysplasia (IED) (also known as tufting enteropathy)

2. Differential Diagnosis of Malabsorption

The underlying mechanisms of malabsorption (digestive, mucosal, or transport defects) guide the differential diagnosis:

Mucosal/Enterocyte Damage (Most Common Causes)

These conditions directly damage the absorptive surface (villi) of the small intestine.

A.    Maldigestion (Intraluminal Defects)

Failure to properly break down nutrients before absorption.

B.    Post-Mucosal/Transport Defects

C.    impaired transport of absorbed nutrients into the circulation.

D.    Intestinal Lymphangiectasia: Dilated lymph vessels prevent absorbed lipids from entering the circulation, leading to protein-losing enteropathy (PLE) [2.5].

Vascular obstruction [1.3].

3. Diagnostic Approach and Role of Biopsy

Diagnosis is multifaceted, beginning with clinical history, followed by targeted testing:

1.Screening Blood Tests: Full Blood Count (anemia), albumin, calcium, iron/ferritin, and fat soluble vitamin levels (A, D, E, K) [2.1]. Specific serology (e.g., Celiac antibodies) [1.2, 3.2].

2.Confirmatory Malabsorption Tests: Stool Fat Test (quantifying fat excretion, ≥ 7g/day is abnormal) to confirm steatorrhea [2.1].

3. Endoscopy and Small Intestinal Biopsy (Gold Standard): Essential for diagnosing mucosal diseases like Celiac Disease (villous atrophy) and for detecting dysplasia [1.6, 2.4, 3.2]. Biopsies are mandatory for IBD surveillance to detect dysplasia before it progresses to cancer [2.3].

4.Dysplasia in the intestines (often found in the colon or stomach, but possible in the small bowel) is typically detected via routine or targeted biopsies during endoscopy (e.g., surveillance colonoscopy in IBD patients, or surveillance gastroscopy for gastric intestinal metaplasia) [2.3, 2.6]. Histological findings are classified as low-grade dysplasia (LGD) or high-grade dysplasia (HGD) [2.4].

1.Treatment for malabsorption is primarily focused on the etiology and nutritional support [1.1]. Management of dysplasia centers on removal and surveillance.

B. Management of Dysplasia

The goal is to prevent progression to invasive carcinoma. Management guidelines primarily apply to IBD and Barrett’s/gastric dysplasia, but the principle is the same [2.4, 3.1]:

Low-Grade Dysplasia (LGD): Often managed with intensive endoscopic surveillance (frequent, targeted biopsies) and optimization of anti-inflammatory treatment for IBD [2.4].

High-Grade Dysplasia (HGD) or Suspicious Lesions: Requires endoscopic mucosal resection (EMR) or endoscopic submucosal dissection (ESD) to remove the abnormal tissue [2.4].

Diffuse or Non-resectable Dysplasia (HGD): May necessitate surgical resection (e.g., colectomy for diffuse colonic HGD in IBD).

References

[1.1] Malabsorption Syndromes – StatPearls -NCBI Bookshelf.

[1.2] European Consensus on Malabsorption-UEG & SIGE, LGA, SPG, SRGH, CGS, ESPCG, EAGEN, ESPEN, and ESPGHAN.

[1.4] Overview of Malabsorption Gastrointestinal Disorders – MSD Manual Professional Edition.

[1.5] Intestinal epithelial dysplasia (tufting enteropathy) – PMC – PubMed Central.

[1.6] The Malabsorption Syndrome and Its Causes and Consequences – PMC – PubMed Central.

[2.1] Malabsorption Tests | MUSC Health.

[2.2] Malabsorption (Syndrome): Symptoms, Causes & Treatment – Cleveland Clinic.

[2.3] Investigations and tests – York and Scarborough Teaching Hospitals NHS Foundation Trust.

[2.4] A GP primer for understanding upper gastrointestinal tract biopsy reports – RACGP.

[2.5] Chronic Diarrhoea, Malabsorption, Coeliac Disease RCH.

[2.6] Diagnosis and Management of Gastric Intestinal Metaplasia: Current Status and Future Directions – Gut and Liver.

[3.1] Gastric intestinal metaplasia and gastric epithelial dysplasia – precursor lesions of gastric cancer – MJHS.

[3.2] Malabsorption Syndromes | Request PDF -ResearchGate.