Clinical Phenotypes of Gaucher Disease

Description

Gaucher disease is a lysosomal storage disease of glycolipids, with accumulation of glucosylceramide (glucocerebroside). The disease can be divided into different clinical phenotypes based on clinical findings.

Major Types:

(1) Type 1 - nonneuronopathic

(2) Type 2 - acute neuronopathic with severe neurologic involvement

(3) Type 3 - subacute neuronopathic

Subtypes of Type 3:

(1) Type 3a - progressive neurologic disease with myoclonus and dementia

(2) Type 3b - visceral and skeletal disease with horizontal supranuclear gaze palsy

(3) Type 3c - corneal opacities, cardiac valve calcifications, horizontal supranuclear gaze palsy

Factor	Type 1	Type 2	Type 3a	Type 3b	Type 3c
ethnic group	Ashkenazi Jew	none	northern Swedish	none	none
onset	variable	infancy	childhood	childhood	childhood
hepato-spleno-megaly	mild to severe	mild	severe	severe	mild
bone disease	mild to severe	none	moderate	severe	mild
neurologic disease	none	severe	moderate	none to mild	none
survival if untreated	child to old age	infancy to toddler	early to mid adult	early to mid adult	early to mid adult

after Table 146-1, page 3637.

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Description

Specialty

ICD-10