The following medical news items are relevant to diagnosis and misdiagnosis issues for Fibrosis:
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The following test results may support the diagnosis:
❑ Chest X-rays indicate early signs of obstructive lung disease.
❑ Stool specimen analysis indicates the absence of trypsin, suggesting pancreatic insufficiency.
❑ Deoxyribonucleic acid testing can now locate the presence of the Delta F 508 deletion (found in about 70% of cystic fibrosis patients, although the disease can cause more than 100 other mutations). It allows prenatal diagnosis in families with a previously affected child.
❑ Pulmonary function tests reveal decreased vital capacity, elevated residual volume due to air entrapments, and decreased forced expiratory volume in 1 second. This test is used if pulmonary exacerbation already exists.
❑ Liver enzyme tests may reveal hepatic insufficiency.
❑ Sputum culture reveals organisms that cystic fibrosis patients typically and chronically colonize, such as Staphylococcus and Pseudomonas.
❑ Serum albumin measurement helps assess nutritional status.
❑ Electrolyte analysis assesses hydration status.
Source: Professional Guide to Diseases (Eighth Edition), 2005
Liver scan shows abnormal thickening and a liver mass. Cholecystography and cholangiography visualize the gallbladder and the biliary duct system, respectively; splenoportal venography visualizes the portal venous system. Percutaneous trans-hepatic cholangiography differentiates extrahepatic from intrahepatic obstructive jaundice and discloses hepatic pathology and the presence of gallstones.
Laboratory findings that are characteristic of cirrhosis include:
❑ decreased white blood cell count, hemoglobin level and hematocrit, albumin, serum electrolyte levels (sodium, potassium, chloride, and magnesium), and cholinesterase
❑ elevated levels of globulin, serum ammonia, total bilirubin, alkaline phosphatase, serum aspartate aminotransferase, serum alanine aminotransferase, and lactate dehydrogenase and increased thymol turbidity
❑ anemia, neutropenia, and thrombocytopenia, characterized by prolonged prothrombin and partial thromboplastin times
❑ deficiencies of folic acid, iron, and vitamins A, B12, C, and K.
Source: Professional Guide to Diseases (Eighth Edition), 2005
Diagnosis begins with a thorough patient history to exclude a more common cause of interstitial lung disease.
Histologic features of the biopsy tissue vary, depending on the stage of the disease and other factors that aren’t yet completely understood. The alveolar walls are swollen with chronic inflammatory cellular infiltrate composed of mononuclear cells and polymorphonuclear leukocytes. Intra-alveolar inflammatory cells may be found in early stages. As the disease progresses, excessive collagen and fibroblasts fill the interstitium. In advanced stages, alveolar walls are destroyed and are replaced by honeycombing cysts.
Chest X-rays may show one of four distinct patterns: interstitial, reticulonodular, ground-glass, or honeycomb. Although chest X-rays are helpful in identifying the presence of an abnormality, they don’t correlate well with histologic findings or pulmonary function tests (PFTs) in determining the severity of the disease. They also don’t help distinguish inflammation from fibrosis. However, serial X-rays may help track the progression of the disease.
High-resolution computed tomography scans provide superior views of the four patterns seen on routine X-ray film and are used routinely to help establish the diagnosis of IPF. Research is currently under way to determine whether the four patterns of abnormality seen on these scans correlate with responsiveness to treatment.
PFTs show reductions in vital capacity and total lung capacity and impaired diffusing capacity for carbon monoxide. Arterial blood gas (ABG) analysis and pulse oximetry reveal hypoxemia, which may be mild when the patient is at rest early in the disease but may become severe later in the disease. Oxygenation will always deteriorate, usually to a severe level, with exertion. Serial PFTs (especially carbon monoxide diffusing capacity) and ABG values may help track the course of the disease and the patient’s response to treatment.
Source: Professional Guide to Diseases (Eighth Edition), 2005
The Cystic Fibrosis Foundation sets the following standards for a definitive diagnosis:
❑ Two sweat tests using a pilocarpine solution (a sweat inducer) are clearly positive; the patient also has either an obstructive pulmonary disease, confirmed pancreatic insufficiency or failure to thrive, or a family history of cystic fibrosis.
Clinical tip Due to the large number of cystic fibrosis mutations, DNA analysis isn’t used for primary diagnosis.
❑ Chest X-rays indicate early signs of obstructive lung disease.
❑ Stool specimen analysis indicates the absence of trypsin, suggesting pancreatic insufficiency.
The following test results may support the diagnosis:
❑ Deoxyribonucleic acid testing can now locate the presence of the Delta F 508 deletion (found in about 70% of cystic fibrosis patients, although the disease is caused by more than 800 different mutations). This test can also be used for carrier detection and a prenatal diagnosis in families with a previously affected child.
❑ Pulmonary function tests reveal decreased vital capacity, elevated residual volume from air entrapments, and decreased forced expiratory volume in 1 second. This test is used if pulmonary exacerbation already exists.
❑ Liver enzyme test may reveal hepatic insufficiency.
❑ Sputum culture reveals organisms that cystic fibrosis patients typically and chronically colonize, such as Staphylococcus and Pseudomonas.
❑ Serum albumin levels help assess nutritional status.
❑ Electrolyte analysis assesses dehydration and glucose levels.
Source: Handbook of Diseases, 2003
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Idiopathic pulmonary fibrosis:
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(Professional Guide to Diseases (Eighth Edition))
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