Misdiagnosis of Hidden Causes of Gaucher Disease

Underlying conditions list:

The list of possible underlying conditions mentioned in various sources for Gaucher Disease includes:

• All 3 forms of Gaucher disease are caused by glucocerebrosidase activity deficiency due to mutations in GBA, structural gene that encodes the enzyme. Widespread accumulation of glucosylceramide-laden macrophages results from the enzyme deficiency

Other underlying conditions related to Gaucher Disease:

• Acid phosphatase levels raised (plasma or serum)
• Angiotensin converting enzyme levels raised (plasma or serum)
• Aseptic necrosis of bone
• Bone lysis
• Bone pain
• Collodion membrane
• Dysphagia
• Erlenmeyer flask deformity
• Hepatomegaly
• Hydrops fetalis
• Hyperpigmentation
• Hyperreflexia
• Learning disability
• Leucoerythroblastic anaemia
• Osteosclerosis
• Pericarditis
• Pinguecula
• Platyspondyly
• Pulmonary hypertension
• Restrictive cardiomyopathy
• Short stature
• Sphingolipidosis
• Splenomegaly
• Thrombocytopenia
• Tooth eruption delayed

Source: Diseases Database

Gaucher Disease as a symptom:

Conditions listing Gaucher Disease as a symptom may also be potential underlying conditions.

You may also want to research other symptoms in our Symptoms Center.

• Gaucher ichthyosis restrictive dermopathy

About underlying conditions:

With a diagnosis of Gaucher Disease, it is important to consider whether there is an underlying condition causing Gaucher Disease. These are other medical conditions that may possibly cause Gaucher Disease. For general information on this form of misdiagnosis, see Underlying Condition Misdiagnosis or Overview of Misdiagnosis.

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