Which of the following is false regarding Gaucher's disease?

INI-CET EXAM -2025

Pathology & Genetics

Easy

Appeared in: INI-CET EXAM -2025

Explanation

Ceramidase deficiency is the enzymatic defect in Farber disease, a separate lysosomal storage disorder.
Gaucher's disease is fundamentally caused by a deficiency of the enzyme beta-glucocerebrosidase.
The two conditions are distinct, caused by different enzyme deficiencies, and have different clinical presentations.

Option A: This is a true statement. The 'crumpled tissue paper' appearance is the classic description of the cytoplasm of a Gaucher cell, which is a macrophage engorged with glucocerebroside.
Option B: This is a true statement. The deficiency of the lysosomal enzyme beta-glucocerebrosidase is the defining cause of Gaucher's disease.
Option D: This is a true statement. Bone pain, bone crises, and pathologic fractures are common and often debilitating clinical manifestations of Gaucher's disease, resulting from the infiltration of bone marrow by Gaucher cells.

Visual 1: Micrograph - A microscopic image of a bone marrow aspirate showing Gaucher cells with their characteristic 'crumpled tissue paper' cytoplasm.
Visual 2: Diagram - A biochemical pathway illustrating how the deficiency of glucocerebrosidase leads to the accumulation of its substrate, glucocerebroside, within lysosomes.

Clinical Relevance

Nursing practice connection: Knowing Pathophysiology and clinical features of Gaucher's disease helps nurses interpret findings accurately and avoid errors in routine assessment, medication administration, and patient teaching.
Differentiating between various lysosomal storage diseases is crucial for accurate diagnosis, genetic counseling, and initiating the correct management, such as enzyme replacement therapy (ERT) for Gaucher's disease.
A nurse should be aware that patients with Gaucher's disease are at high risk for bone pain and fractures, requiring careful handling, pain management, and monitoring for skeletal complications.
What if the patient presented with painful, swollen joints and subcutaneous nodules instead of bone pain and organomegaly? This clinical picture would point towards Farber disease, which is caused by ceramidase deficiency, highlighting the importance of correlating symptoms with the correct enzyme defect.

How to Approach the Question

First, identify the core subject of the question, which is 'Gaucher's disease'.
Next, recognize the negative framing of the question; you need to find the 'false' statement.
Systematically evaluate each option based on your knowledge of the disease's cause, pathology, and symptoms.
Recall that Gaucher's is a lysosomal storage disease caused by an enzyme deficiency. The specific enzyme is beta-glucocerebrosidase. This confirms option B is true.
Remember the classic histological finding of Gaucher cells having a 'crumpled tissue paper' appearance. This confirms option A is true.
Recall that skeletal involvement, leading to bone pain, is a major clinical feature. This confirms option D is true.

Concept Tested & Keywords

Concept Tested: Pathophysiology and clinical features of Gaucher's disease
Stem keywords: Gaucher's disease, false
Lead-in keywords: false
Negative lead-in flag: The question asks to identify the FALSE statement about Gaucher's disease.

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