ICD-10: E88.02
Plasminogen deficiency
Clinical Information
Inclusion Terms
- Type 1 plasminogen deficiency
- Dysplasminogenemia
- Hypoplasminogenemia
- Type 2 plasminogen deficiency
Additional Information
Diagnostic Criteria
Plasminogen deficiency, classified under ICD-10 code E88.02, is a rare genetic disorder characterized by a deficiency of plasminogen, a protein crucial for the breakdown of fibrin in blood clots. This condition can lead to various complications, including impaired wound healing and increased risk of thrombosis. Diagnosing plasminogen deficiency involves a combination of clinical evaluation, laboratory tests, and genetic analysis.
Clinical Criteria for Diagnosis
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Clinical Symptoms:
- Patients may present with symptoms such as recurrent venous thromboembolism, delayed wound healing, or unusual bleeding tendencies. These clinical manifestations can vary significantly among individuals, making a thorough clinical history essential for diagnosis. -
Family History:
- A detailed family history is important, as plasminogen deficiency is often inherited in an autosomal recessive manner. Identifying affected family members can support the diagnosis. -
Laboratory Tests:
- Plasminogen Activity Assay: This test measures the functional activity of plasminogen in the blood. A significantly reduced level of plasminogen activity is indicative of deficiency.
- Plasminogen Antigen Level: This test quantifies the amount of plasminogen protein present in the blood. Low levels of plasminogen antigen can confirm the deficiency.
- Fibrinolytic Activity Tests: These tests assess the ability of the blood to break down clots, which can be impaired in individuals with plasminogen deficiency. -
Genetic Testing:
- Genetic analysis can identify mutations in the PLG gene, which encodes the plasminogen protein. Confirmatory genetic testing is particularly useful in cases where the clinical and laboratory findings are inconclusive. -
Exclusion of Other Conditions:
- It is crucial to rule out other causes of similar symptoms, such as other coagulation disorders or liver diseases, which may affect plasminogen levels or function.
Conclusion
The diagnosis of plasminogen deficiency (ICD-10 code E88.02) relies on a combination of clinical evaluation, laboratory testing, and genetic analysis. A comprehensive approach that includes assessing symptoms, family history, and specific laboratory tests is essential for accurate diagnosis. If you suspect plasminogen deficiency, consulting with a healthcare provider specializing in hematology or genetics is advisable for further evaluation and management.
Description
ICD-10 code E88.02 refers to Plasminogen deficiency, a rare genetic disorder characterized by a deficiency of plasminogen, a protein crucial for the breakdown of fibrin in blood clots. This condition can lead to various complications, primarily related to abnormal blood clotting and tissue repair.
Clinical Description
Overview of Plasminogen
Plasminogen is a precursor to plasmin, an enzyme that plays a vital role in the fibrinolytic system, which is responsible for the dissolution of blood clots. A deficiency in plasminogen can result in impaired fibrinolysis, leading to an increased risk of thrombosis (the formation of blood clots) and other related complications.
Symptoms
Individuals with plasminogen deficiency may present with a range of symptoms, which can vary in severity. Common clinical manifestations include:
- Recurrent Thromboembolic Events: Patients may experience repeated episodes of blood clots, which can occur in veins (venous thrombosis) or arteries (arterial thrombosis).
- Tissue Ischemia: Due to inadequate blood flow, affected individuals may suffer from tissue damage or necrosis.
- Wound Healing Issues: Impaired fibrinolysis can lead to delayed wound healing and increased scarring.
- Potential for Hemorrhage: Although less common, some patients may also experience bleeding complications due to the complex interplay of clotting factors.
Diagnosis
Diagnosis of plasminogen deficiency typically involves:
- Clinical Evaluation: A thorough medical history and physical examination to assess symptoms and family history.
- Laboratory Tests: Blood tests to measure plasminogen levels and assess the fibrinolytic activity. Genetic testing may also be performed to identify mutations in the plasminogen gene.
Treatment
Management of plasminogen deficiency focuses on preventing thromboembolic events and addressing any complications that arise. Treatment options may include:
- Anticoagulation Therapy: Medications such as warfarin or direct oral anticoagulants may be prescribed to reduce the risk of clot formation.
- Plasminogen Replacement Therapy: In some cases, patients may benefit from treatments that provide exogenous plasminogen, although this is still an area of ongoing research.
- Supportive Care: Addressing symptoms and complications as they arise, including wound care and management of thrombotic events.
Conclusion
Plasminogen deficiency, classified under ICD-10 code E88.02, is a significant condition that requires careful management to prevent complications associated with abnormal clotting. Early diagnosis and a tailored treatment approach are essential for improving patient outcomes and quality of life. As research continues, advancements in treatment options may provide further benefits for those affected by this rare disorder.
Clinical Information
Plasminogen deficiency, classified under ICD-10 code E88.02, is a rare genetic disorder that affects the body's ability to break down blood clots. This condition can lead to various clinical presentations, signs, symptoms, and patient characteristics that are important for diagnosis and management.
Clinical Presentation
Plasminogen deficiency can manifest in several ways, primarily related to the impaired fibrinolysis (the process of breaking down fibrin in blood clots). The clinical presentation may vary significantly among individuals, depending on the severity of the deficiency and the presence of other underlying conditions.
Common Signs and Symptoms
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Recurrent Thromboembolic Events: Patients often experience repeated episodes of thrombosis, which can occur in veins (venous thrombosis) or arteries (arterial thrombosis). This is due to the inability to adequately dissolve clots, leading to complications such as deep vein thrombosis (DVT) or pulmonary embolism (PE) [1][2].
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Delayed Wound Healing: Individuals with plasminogen deficiency may notice that wounds take longer to heal, as the normal fibrinolytic process is disrupted, leading to prolonged clot formation [3].
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Skin Manifestations: Some patients may develop skin lesions or ulcers, particularly in areas where blood flow is compromised due to clotting issues. These can appear as painful sores or necrotic tissue [4].
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Muscle and Joint Pain: Patients may report pain in muscles and joints, which can be attributed to the presence of clots or the effects of impaired circulation [5].
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Bleeding Complications: Although less common, some individuals may experience bleeding episodes, particularly if they have concurrent conditions that affect clotting [6].
Patient Characteristics
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Genetic Background: Plasminogen deficiency is often inherited in an autosomal recessive manner, meaning that both parents must carry the gene mutation for a child to be affected. Genetic testing can confirm the diagnosis [7].
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Age of Onset: Symptoms can present at various ages, but many individuals may not be diagnosed until they experience significant thrombotic events, which can occur in childhood or adulthood [8].
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Family History: A family history of thrombotic events or plasminogen deficiency may be present, highlighting the genetic nature of the disorder [9].
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Associated Conditions: Patients may have other coexisting conditions that can complicate the clinical picture, such as other clotting disorders or cardiovascular issues [10].
Conclusion
Plasminogen deficiency (ICD-10 code E88.02) presents a unique set of challenges due to its impact on the body's ability to manage blood clots effectively. Recognizing the signs and symptoms, along with understanding patient characteristics, is crucial for timely diagnosis and appropriate management. Clinicians should consider a comprehensive approach that includes genetic counseling and potential treatment options, such as plasminogen replacement therapy, to address the complications associated with this condition.
Approximate Synonyms
Plasminogen deficiency, classified under the ICD-10-CM code E88.02, is a rare genetic disorder that affects the body's ability to break down blood clots. This condition can lead to various complications, including thrombosis and impaired wound healing. Understanding alternative names and related terms for this condition can enhance clarity in medical documentation and communication.
Alternative Names for Plasminogen Deficiency
- Plasminogen Deficiency Disorder: This term emphasizes the disorder aspect of the deficiency.
- Hypoplasminogenemia: This term refers to a lower-than-normal level of plasminogen in the blood.
- Plasminogen Deficiency Syndrome: This name highlights the syndrome's broader implications and associated symptoms.
- Type I Plasminogen Deficiency: This designation is often used to specify the most common form of the deficiency, which is inherited in an autosomal recessive manner.
Related Terms
- Fibrinolytic Deficiency: This term refers to a broader category of disorders affecting the fibrinolytic system, which includes plasminogen deficiency.
- Thrombotic Disorders: Since plasminogen deficiency can lead to increased clotting, it is often discussed in the context of thrombotic disorders.
- Inherited Thrombophilia: This term encompasses genetic conditions that predispose individuals to thrombosis, including plasminogen deficiency.
- Plasminogen Activator Inhibitor: While not a direct synonym, this term relates to the regulatory mechanisms affecting plasminogen and its activity in the body.
Clinical Context
Plasminogen deficiency is part of a group of disorders classified under disorders of plasma-protein metabolism (ICD-10 code E88). It is essential for healthcare providers to be aware of these alternative names and related terms to ensure accurate diagnosis, treatment, and coding in medical records.
In summary, recognizing the various names and related terms for plasminogen deficiency can facilitate better communication among healthcare professionals and improve patient care outcomes. If you have further questions or need additional information, feel free to ask!
Treatment Guidelines
Plasminogen deficiency, classified under ICD-10 code E88.02, is a rare genetic disorder characterized by a deficiency of plasminogen, a protein crucial for the breakdown of fibrin in blood clots. This condition can lead to various complications, including increased risk of thrombosis and impaired wound healing. The management of plasminogen deficiency typically involves a combination of treatment strategies aimed at addressing the underlying deficiency and managing symptoms.
Standard Treatment Approaches
1. Replacement Therapy
The primary treatment for plasminogen deficiency is the administration of plasminogen replacement therapy. The most commonly used product is Ryplazim (human plasminogen), which is derived from human plasma and is specifically indicated for the treatment of congenital plasminogen deficiency. This therapy aims to restore normal plasminogen levels in the bloodstream, thereby improving fibrinolysis (the process of breaking down blood clots) and reducing the risk of thrombotic events[1][2].
2. Management of Symptoms
Patients with plasminogen deficiency may experience various symptoms, including recurrent thrombotic episodes or complications related to impaired fibrinolysis. Symptomatic management may include:
- Anticoagulation Therapy: In cases where patients are at high risk for thrombosis, anticoagulants such as warfarin or direct oral anticoagulants may be prescribed to prevent clot formation[1].
- Wound Care: Given the potential for impaired wound healing, proper wound care and management are essential. This may involve the use of topical agents and careful monitoring of any surgical sites[1].
3. Monitoring and Follow-Up
Regular monitoring of plasminogen levels and clinical symptoms is crucial for patients undergoing treatment. This may involve:
- Routine Blood Tests: To assess plasminogen levels and adjust treatment as necessary.
- Clinical Assessments: Regular evaluations by healthcare providers to monitor for any complications or changes in the patient's condition[1][2].
4. Genetic Counseling
Since plasminogen deficiency is a genetic disorder, genetic counseling may be beneficial for affected individuals and their families. This can provide insights into inheritance patterns, risks for future offspring, and the implications of the condition[1].
Conclusion
The management of plasminogen deficiency (ICD-10 code E88.02) primarily revolves around plasminogen replacement therapy, alongside supportive measures to manage symptoms and prevent complications. Regular monitoring and genetic counseling are also integral components of comprehensive care. As research continues, advancements in treatment options may further enhance the quality of life for individuals affected by this rare condition. If you have further questions or need more specific information, feel free to ask!
Related Information
Diagnostic Criteria
- Recurrent venous thromboembolism
- Delayed wound healing symptoms
- Unusual bleeding tendencies
- Family history of plasminogen deficiency
- Low plasminogen activity levels
- Low plasminogen antigen levels
- Impaired fibrinolytic activity
- Genetic mutations in PLG gene
Description
- Plasminogen deficiency is a genetic disorder
- Impaired fibrinolysis leads to thrombosis risk
- Recurrent blood clots and tissue ischemia
- Delayed wound healing and scarring issues
- Potential for hemorrhage due to clotting factors
- Diagnosis involves clinical evaluation and lab tests
- Treatment focuses on anticoagulation and replacement therapy
Clinical Information
- Recurrent thromboembolic events occur
- Delayed wound healing is common
- Skin manifestations include painful sores
- Muscle and joint pain is frequent
- Bleeding complications can arise
- Genetic background is autosomal recessive
- Age of onset varies significantly
- Family history of thrombotic events exists
- Coexisting conditions are common
Approximate Synonyms
- Plasminogen Deficiency Disorder
- Hypoplasminogenemia
- Plasminogen Deficiency Syndrome
- Type I Plasminogen Deficiency
- Fibrinolytic Deficiency
- Thrombotic Disorders
- Inherited Thrombophilia
Treatment Guidelines
- Administer Ryplazim replacement therapy
- Manage symptoms with anticoagulation therapy
- Provide proper wound care and management
- Monitor plasminogen levels through routine blood tests
- Perform regular clinical assessments for complications
- Offer genetic counseling to affected individuals
Coding Guidelines
Code Also
- , if applicable, ligneous conjunctivitis (H10.51)
Use Additional Code
- respiratory disorder related to plasminogen deficiency (J99)
- hydrocephalus (G91.4)
- otitis media (H67.-)
- code for associated findings, such as:
Related Diseases
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