Diagnosis of Niemann-Pick disease
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LYMPHADENOPATHY, GENERALIZED:
Approach to the Diagnosis
(Differential Diagnosis in Primary Care)
Obviously, it is tempting simply to do a lymph node biopsy, but certain other procedures should be done first. If the patient is febrile, febrile agglutinins, Monospot test, blood cultures, and cultures of any other suspicious body fluid should be made. An FTA-ABS test should be done as well as a chest x-ray and tuberculin test to rule out tuberculosis. A blood count usually shows leukemia, but a bone marrow may be necessary to diagnose leukemia, Hodgkin disease, and the reticuloendothelioses. Other x-rays, skin tests, and special diagnostic procedures may be necessary.
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Source: Differential Diagnosis in Primary Care, 2007
Lymphadenopathy, Generalized:
History
(The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter)
should focus on those common causes of generalized lymphadenopathy.
A. History of present illness should focus on the duration, location, quality, and context of the lymphadenopathy. Note associated signs and symptoms such as rash, fever, sore throat, and cough (4) (Chapters 2.6, 8.1, and 13.6). The goal is to ascertain if the adenopathy is attributable to a specific cause.
B. Past medical history should focus on known illness, medication usage, and allergies. Serum sickness from antibiotic use as well as diphenylhydantoin for seizure prevention can cause generalized lymphadenopathy. Common chronic illnesses (e.g., lupus erythematosus and rheumatoid arthritis) can also cause generalized lymphadenopathy.
C. Social history should focus on the patient’s occupation, sexual history, and alcohol use. Hepatitis B, secondary syphilis, and early human immunodeficiency virus (HIV) can all present with generalized lymphadenopathy. Patients with Hodgkin’s disease can develop painful adenopathy with alcohol use.
D. Family history. Inquire about family illness with a genetic predisposition as well as any exposures to household contacts with infectious diseases (e.g., tuberculosis, infectious mononucleosis, or hepatitis B).
E. Review of systems should focus on constitutional symptoms such as weight loss, fatigue, night sweats, malaise, arthralgias, nausea, and vomiting (1).
Physical examination
A. General. A comprehensive physical examination should be performed on all patients with generalized lymphadenopathy. Focus on those findings consistent with the most frequent causes of generalized lymphadenopathy. Note the patient’s temperature and weight, because fever and weight loss are frequent findings. Examine the skin, mucous membranes, abdominal organs, and joints; specifically, the presence of rash, mucocutaneous ulceration, organomegaly, and arthritis can be a guide to possible causes of the adenopathy. The presence of splenomegaly in a patient with adenopathy implies a systemic illness (e.g., infectious mononucleosis, lymphoma, leukemia, lupus, sarcoidosis, toxoplasmosis, or cat scratch disease) (Chapter 15.4). Additionally, search for other abnormal lymph nodes. Studies have shown that clinicians identified only 17% of those cases of generalized lymphadenopathy when it was present (1).
B. Nodal examination. The abnormal lymph node groups should be specifically examined.
1. Size. Lymph nodes enlarged up to 1 cm in diameter can be considered normal in size. These have a low malignancy risk and can usually be observed. Lymph nodes greater than 1.5 cm × 1.5 cm in area have been shown to have a 38% risk of cancer involvement and merit further workup (2).
2. Location. Anterior cervical, submandibular, and inguinal nodes are normally palpable. The presence of supraclavicular adenopathy is always abnormal and carries a 90% cancer risk in those aged more than 40 years. Postocciptal nodes are associated with infectious mononucleosis, scalp lesions, toxoplasmosis, and non-Hodgkin’s lymphoma. Axillary nodes are associated with upper extremity infections, breast cancer, cat scratch disease, and lymphomas. Epitrochlear nodes are associated with pyogenic infections, sarcoidosis, tularemia, and syphilis. Inguinal nodes are associated with lower extremity infections and sexually transmitted diseases.
3. Pain. The presence or absence of pain is not a reliable indicator of the cause of adenopathy. Capsular swelling from acute infections can cause pain as can necrotic hemorrhage from a malignant lymph node.
4. Consistency. Rock hard nodes are consistent with metastatic disease (2). Firm rubbery nodes are found with lymphomas. Soft nodes tend to occur with infectious causes; however, this should not be considered diagnostic.
» READ BOOK EXCERPT ONLINE »
Source: The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter, 2000
LYMPHADENOPATHY, GENERALIZED:
Approach to the Diagnosis
(Differential Diagnosis in Primary Care)
Obviously, it is tempting simply to do a lymph node biopsy, but certain
other procedures should be done first. If the patient is febrile, febrile
agglutinins, monospot test, blood cultures, and cultures of any other
suspicious body fluid should be made. A fluorescent treponemal antibody
absorption test (FTA-ABS) test should be done as well as a chest x-ray and
tuberculin test to rule out tuberculosis. A blood count usually shows
leukemia, but a bone marrow biopsy may be necessary to diagnose leukemia, Hodgkin lymphoma, and
the reticuloendothelioses. Other x-rays, skin tests, and special diagnostic
procedures may be necessary.
» READ BOOK EXCERPT ONLINE »
Source: Differential Diagnosis in Primary Care, 2007
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