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Diseases » Marfan syndrome » Tests

Diagnostic Tests for Marfan syndrome

Contents

Marfan syndrome Tests: Book Excerpts

Home Diagnostic Testing

These home medical tests may be relevant to Marfan syndrome:

Osteoporosis & Bone Health: Home Testing:
- Home Osteoporosis Tests
- Home Bone Loss Tests

Marfan syndrome Diagnosis: Book Excerpts

Tests and diagnosis discussion for Marfan syndrome:

There is no specific laboratory test, such as a blood test or skin biopsy, to diagnose Marfan syndrome. The doctor and/or geneticist (a doctor with special knowledge about inherited diseases) relies on observation and a complete medical history, including

information about any family members who may have the disorder or who had an early, unexplained heart-related death
a thorough physical examination, including an evaluation of the skeletal frame for the ratio of arm/leg size to trunk size
an eye examination, including a "slit lamp" evaluation
heart tests such as an echocardiogram (a test that uses ultrasound waves to examine the heart and aorta).

The doctor may diagnose Marfan syndrome if the patient has a family history of the disease and there are specific problems in at least two of the body systems known to be affected. For a patient with no family history of the disease, at least three body systems must be affected before a diagnosis is made. Moreover, two of the systems must show clear signs that are relatively specific for Marfan syndrome.

In some cases, a genetic analysis may be useful, but such analyses are often time consuming and may not provide any additional helpful information. Family members of a person diagnosed with Marfan syndrome should not assume they are not affected if there is no knowledge that the disorder existed in previous generations of the family. After a clinical diagnosis of a family member, a genetic study might identify the specific mutation for which a test can be performed to determine if other family members are affected. (Source: excerpt from Questions and Answers about Marfan Syndrome: NIAMS)

Diagnostic Tests for Marfan syndrome: Online Medical Books

16 MEDICAL BOOKS ONLINE! Review excerpts from medical books online, free, without registration, for more information about the diagnostic tests for Marfan syndrome.

CHEST DEFORMITY: DIAGNOSTIC WORKUP
(Algorithmic Diagnosis of Symptoms and Signs)

Plain films of the chest, thoracic spine, and ribs will usually be diagnostic of chest deformities. Sputum culture and sensitivity, pleural fluid analysis, culture, and CT scans will be helpful in confusing cases. Referral to a pulmonologist will also help clear up the confusion.

» READ BOOK EXCERPT ONLINE »

Source: Algorithmic Diagnosis of Symptoms and Signs, 2003

SCOLIOSIS: DIAGNOSTIC WORKUP
(Algorithmic Diagnosis of Symptoms and Signs)

The vast majority of mild cases of scoliosis require only x-rays and watchful expectancy or referral to an orthopedic surgeon. Routine diagnostic workup may include a CBC, sedimentation rate, urinalysis, chemistry panel, arthritis panel with ANA and HLA B27 antigen, tuberculin test, and a spinal survey including both recumbent and upright views. A bone survey may need to be done also. A bone scan may be necessary to detect subtle bone disease. If these tests are negative, the patient should be referred to an orthopedic surgeon. EMG examinations, nerve conduction velocity studies, CT scans, and MRIs may be necessary. Remember, scoliosis is rarely the cause of back pain unless the spinal angulation exceeds 40 degrees.

» READ BOOK EXCERPT ONLINE »

Source: Algorithmic Diagnosis of Symptoms and Signs, 2003

Salivation, increased [Polysialia, ptyalism]: History and physical examination
(Professional Guide to Signs & Symptoms (Fifth Edition))

A patient who complains of increased salivation may have overproductive salivary glands or difficulty swallowing. To distinguish these, first test for a gag reflex and observe the patient’s ability to swallow and chew. Is he drooling? Is his chewing uncoordinated? An impaired gag reflex, drooling, and chewing incoordination suggest difficulty swallowing. Does he have related signs and symptoms, such as fatigue, fever, headache, or a sore throat? Ask about exposure to industrial toxins, such as mercury. Is the patient taking any medications? Note especially use of iodides, cholinergics, and miotics.

Inspect the mouth and mucous membranes for lesions. If present, are they painful? Put on gloves and palpate the lesions, which may be suppurative or infectious. Describe them in your notes. Next, inspect the uvula, gingivae, and pharynx. Palpate the lymph nodes, and determine if the parotid glands are swollen or sore.

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Source: Professional Guide to Signs & Symptoms (Fifth Edition), 2006