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Making a Diagnosis

Many of Gaucher disease's presenting symptoms--from hepatosplenomegaly to bone pain to hematological complications--are also found with other more common diseases (i.e leukemia, lymphoma). It is not unusual for physicians to initially suspect other disorders including:^[1]

• Leukemia
• Lymphoma
• Bleeding disorders
• Osteomyelitis
• Legg-Calvé-Perthes syndrome
• Growth pain

In addition, other diseases sometimes present with engorged cells that resemble Gaucher cells.^[2] Conditions for which these "pseudo-Gaucher cells" have been detected include:

• Chronic granulocytic leukemia
• Multiple myeloma
• Hodgkin's disease
• Thalassemia

Signs & Symptoms by Medical Field

Below are clusters of symptoms and signs that may alert physicians to consider Gaucher disease.

General Presentation
Hematology
Gastroenterology/Hepatology
Gynecology
Pediatrics
Orthopedics
Neurology
Cardiology
Dermatology
Ophthalmology

General Presentation

• Fatigue
• Easy bleeding and bruising
• History of frequent infections (self-limiting, not necessarilysevere)
• Gastrointestinal complaints
• Splenomegaly
• Hepatomegaly
• Bone pain (chronic, waxing and waning over time), “growing pains”
• Bone crisis – acute episodes of severe pain lasting days or weeks, accompanied by general malaise, fever, leukocytosis, local swelling, tenderness
• Anemia – chronic
• Thrombocytopenia – chronic
• Leukopenia (occasionally significant) or leukocytosis
• Platelet dysfunction
• Elevated biochemical markers – angiotensin-converting enzyme (ACE), tartrate resistant acid phosphatase (TRAP), chitotriosidase (chito)
• Liver function test abnormalities (elevated transaminases)
• Low cholesterol levels
• Hypergammaglobulinemia
• Delayed skeletal growth and/or delayed puberty
• Dyspnea
• Signs of chronic inflammation (elevated C-reactive protein, ESR)
• Cachectic appearance
• Deformed skeletal habitus

Hematology

• Anemia (various causes: hypersplenism, bone marrow infiltration, vitamin B₁₂ deficiency, etc.)
• Thrombocytopenia – chronic
• Leukopenia (occasionally significant) or leukocytosis
• Gaucher cells in bone marrow
• Hypergammaglobulinemia
• Platelet dysfunction
• Coagulation factor deficiencies
• Elevated serum ferritin

Gastroenterology/Hepatology

• Hepatosplenomegaly
• Pain attacks localized in side/abdomen
• Dyspepsia
• Low energy, chronic fatigue, muscle wasting
• Elevated biochemical markers – angiotensin-converting enzyme (ACE), tartrate resistant acid phosphatase (TRAP), chitotriosidase (chito)
• Liver function test abnormalities (elevated transaminases)
• Signs of chronic inflammation (elevated C-reactive protein, ESR)
• Gallstones

Gynecology

• Excessive bleeding during menses
• Postpartum hemorrhage
• Mechanical problems from splenomegaly and hepatomegaly during pregnancy
• Anemia and other hematological abnormalities [see Hematology]
• Early generalized osteopenia
• Skeletal joint involvement
• Pulmonary hypertension

Pediatrics

• Episodes of severe “growing pains” in a child not going through a growth spurt
• Declining growth rate (small for age, but not since birth)
• Delayed puberty
• Belly complaints (bouts of stinging in the side, dyspepsia)
• More frequent and serious nose bleeds than normal
• Inability of a child to keep up with peers in post-school activities, frequent naps after school, fatigue
• Multiple and extensive bruises and easy bleeding (d.d. battered child)
• Low impact or multiple fractures (d.d. Perthes/osteonecrosis)
• Hepatomegaly
• Splenomegaly
• Mild hematologic abnormalities (anemia, thrombocytopenia)
• Elevated biochemical biomarkers (angiotensin-converting enzyme (ACE), tartrate resistant acid phosphatase (TRAP), chitotriosidase (chito)

Orthopedics

• Unexpected bleeding complication during/after surgery
• Unexpected infection after surgery
• Replacement of bone marrow with Gaucher cells (contributing to anemia, leukopenia, thrombocytopenia)
• Bone pain – chronic
• Osteonecrosis, more frequent in femoral or humeral heads, but can occur anywhere.
• Premature pathologic fractures - femoral neck, long bones, vertebrae
• "Bone crisis" mimicking acute osteomyelitis or sickle cell crisis
• Erlenmeyer flask deformity
• Extraosseous bone formation
• Early generalized osteopenia

Neurology

Neuronopathic Gaucher disease:

• Oculomotor apraxia
• Ataxia
• Seizures
• Myoclonic epilepsy
• Cognitive delay

Non-neuronopathic Gaucher disease:

• Spinal cord or nerve root compression, secondary to vertebral collapse

Cardiology

• Interstitial myocardial infiltration (rare)
• Constrictive pericarditis (rare)
• Calcification of valves (rare)
• Pulmonary hypertension

Dermatology

• Yellow-brown pigmentation of face
• Type 2: ichthyosiform or collodion skin

Ophthalmology

Neuronopathic Gaucher disease:

• Horizontal gaze palsy
• Strabismus
• Horizontal nystagmus
• Optic atrophy leading to blindness (rare)

Non-neuronopathic Gaucher disease:

• Small deposits in cornea, lens, vitreum or retina (rare)

References:

1. Grabowski GA. Lysosomal storage diseases. In: Braunwald E, Fauci AS, eds. Harrison's Principles of Internal Medicine. 15th ed. New York, NY: McGraw-Hill; 2001:2276-2281.

2. Pastores GM. Pathological features of Gaucher's Disease. Bailliere's Clinical Hematology. 1997; 10(4): 739-749.

3. Beutler E, Grabowski GA. Gaucher disease. In: Scriver C, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill; 2001:3635-3668.

4. Cox TM, Schofield JP. Gaucher's disease: clinical features and natural history. Bailliere's Clinical Haematology. 1997;10(4):657-689.

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