Table 7.

Recommended minimum testing


Test

Baseline

Every 3 months

Yearly
Neurologic    
Detailed neurologic history (numbness, pain, weakness, balance, orthostasis) and examination (including funduscopic exam)   X   X*  X  
Electrophysiologic study (nerve conduction studies)   X   X*  X  
Organomegaly/lymphadenopathy/extravascular volume overload    
Physical exam documenting lymphadenopathy, organomegaly, ascites, pleural effusions, and edema   X   X   X  
Computed tomography of chest/abdomen/pelvis: lymphadenopathy, organomegaly, ascites, and effusions   X   X  X 
Endocrinopathy    
History regarding menstrual and sexual function   X   X   X  
Testosterone, estradiol, fasting glucose, glycosylated hemoglobin, thyroid stimulating hormone, and serum cortisol (morning and evening)   X   X  X 
Lutenizing hormone, follicle stimulating hormone, prolactin, adrenocorticotropin hormone, parathyroid hormone, and Cortrosyn stimulation test   X  X  X 
Hematologic    
Serum protein electrophoresis and immunofixation   X   X   X  
Affected quantitative immunoglobulin   X   X   X  
Complete blood count (hemoglobin, platelet)   X   X   X  
24-hour urine total protein, electrophoresis, and immunofixation   X   X   X  
Bone marrow aspirate and biopsy (test for kappa/lambda by immunohistochemistry or flow cytometry or PCL1)   X   X   
Skin    
History regarding skin pigment, thickening and texture, body hair quantity and texture, color of distal extremities, and development of cherry angiomata   X   X   X  
Physical examination with attention to skin pigment, thickening and texture, body hair quantity and texture, color of distal extremities, and development of cherry angiomata   X   X   X  
Sclerotic bone lesions    
Skeletal radiographs   X    X  
Computed tomography of bones   X§   
Positron emission tomography   X   X 
Bone scan   X   X 
Pulmonary function    
Pulmonary function tests including TLC, VC, FEV1, FVC, maximum inspiratory and expiratory pressures, and diffusing capacity of carbon monoxide   X   X  X 
Echocardiography to assess right ventricular systolic and pulmonary artery pressures
 
X
 
X
 
X
 

Test

Baseline

Every 3 months

Yearly
Neurologic    
Detailed neurologic history (numbness, pain, weakness, balance, orthostasis) and examination (including funduscopic exam)   X   X*  X  
Electrophysiologic study (nerve conduction studies)   X   X*  X  
Organomegaly/lymphadenopathy/extravascular volume overload    
Physical exam documenting lymphadenopathy, organomegaly, ascites, pleural effusions, and edema   X   X   X  
Computed tomography of chest/abdomen/pelvis: lymphadenopathy, organomegaly, ascites, and effusions   X   X  X 
Endocrinopathy    
History regarding menstrual and sexual function   X   X   X  
Testosterone, estradiol, fasting glucose, glycosylated hemoglobin, thyroid stimulating hormone, and serum cortisol (morning and evening)   X   X  X 
Lutenizing hormone, follicle stimulating hormone, prolactin, adrenocorticotropin hormone, parathyroid hormone, and Cortrosyn stimulation test   X  X  X 
Hematologic    
Serum protein electrophoresis and immunofixation   X   X   X  
Affected quantitative immunoglobulin   X   X   X  
Complete blood count (hemoglobin, platelet)   X   X   X  
24-hour urine total protein, electrophoresis, and immunofixation   X   X   X  
Bone marrow aspirate and biopsy (test for kappa/lambda by immunohistochemistry or flow cytometry or PCL1)   X   X   
Skin    
History regarding skin pigment, thickening and texture, body hair quantity and texture, color of distal extremities, and development of cherry angiomata   X   X   X  
Physical examination with attention to skin pigment, thickening and texture, body hair quantity and texture, color of distal extremities, and development of cherry angiomata   X   X   X  
Sclerotic bone lesions    
Skeletal radiographs   X    X  
Computed tomography of bones   X§   
Positron emission tomography   X   X 
Bone scan   X   X 
Pulmonary function    
Pulmonary function tests including TLC, VC, FEV1, FVC, maximum inspiratory and expiratory pressures, and diffusing capacity of carbon monoxide   X   X  X 
Echocardiography to assess right ventricular systolic and pulmonary artery pressures
 
X
 
X
 
X
 

TLC indicates total lung capacity; VC, vital capacity; FEV1, forced expiratory volume at 1 sect; FVC; forced vital capacity.

*

At 6 months and then yearly.

Only if affected.

Utility not yet clearly defined.

§

As clinically indicated.

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