How is Plasminogen Deficiency (PLGD) diagnosed?
See how Plasminogen Deficiency (PLGD) is diagnosed. Which specialists are essential to meet, what tests are needed and other useful information for the diagnosis of Plasminogen Deficiency (PLGD)
Plasminogen Deficiency (PLGD) is a rare genetic disorder characterized by the insufficient production or dysfunction of plasminogen, a protein involved in the breakdown of blood clots. Diagnosing PLGD can be challenging due to its rarity and the variability of symptoms among affected individuals.
Medical History: The diagnostic process typically begins with a thorough review of the patient's medical history, including any family history of PLGD or related clotting disorders. This helps identify potential risk factors and provides valuable insights into the patient's symptoms.
Clinical Examination: A physical examination may be conducted to assess any visible signs of abnormal bleeding or clotting, such as excessive bruising, delayed wound healing, or abnormal blood clot formation.
Coagulation Tests: Laboratory tests play a crucial role in diagnosing PLGD. Coagulation tests, including the measurement of plasminogen activity and antigen levels, are performed to evaluate the functionality and quantity of plasminogen in the blood. These tests help identify any deficiencies or abnormalities in plasminogen levels.
Genetic Testing: Genetic testing is often employed to confirm the diagnosis of PLGD. This involves analyzing the patient's DNA for specific mutations or variations in the plasminogen gene. Genetic testing can help identify the underlying genetic cause of PLGD and differentiate it from other similar clotting disorders.
Imaging Studies: In some cases, imaging studies such as ultrasound, magnetic resonance imaging (MRI), or computed tomography (CT) scans may be performed to assess the presence of blood clots or other abnormalities in affected organs or tissues.
Consultation with Specialists: Due to the complexity of PLGD, consultation with specialists such as hematologists, geneticists, or thrombosis experts may be necessary to ensure an accurate diagnosis and appropriate management of the condition.
It is important to note that PLGD diagnosis should be made by qualified healthcare professionals experienced in dealing with rare clotting disorders. The diagnostic process may vary depending on the individual case, and additional tests or evaluations may be required to rule out other potential causes of abnormal bleeding or clotting.
Your doctor may order tests that evaluate the PLG antigen and activity level in the body. This blood testing analysis (assays) will help determine if PLG activity and levels are both diminished, which would indicate congenital PLGD. In mild cases of PLGD, PLG levels may be close to normal; however, the activity is decreased.
Diagnostic Procedures
Your doctor may also send a surgically removed lesion (biopsy) to the lab to determine if the biopsy demonstrates a buildup of fibrin-rich deposits when viewed under a microscope.
Genetic Testing
Genetic testing is used to confirm or rule out suspected PLGD. The condition is caused by mutations in a gene that provide instructions to the body for making the protein called plasminogen. Parents each carry one copy of the mutated gene, but typically do not show any signs and symptoms of the condition.
Specialists
- Hematologist: A doctor who specializes in treating blood conditions
- Ophthalmologist: A doctor who specializes in treating certain vision problems and eye diseases
- Pediatrician: A doctor who specializes in caring for the overall health of children and treating childhood illnesses
- Dental specialist: A doctor who specializes in treating problems of the teeth and gums
- Pulmonologist: A doctor who specializes in treating lung conditions and diseases
- Nephrologist: A doctor who specializes in the care and treatment of kidney diseases
- Neurologist: A doctor who specializes in treating disorders that affect the brain, spinal cord, and nerves
Posted Aug 9, 2017 by jodoinjulie 2000
