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hereditary lymphedema
ICD-10 Codes
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Description
Hereditary lymphedema, also known as genetic lymphedema, is a type of lymphedema that is inherited from one's parents. It is characterized by the abnormal development or function of the lymphatic system, leading to chronic swelling (edema) in affected parts of the body.
Causes and Characteristics:
- Hereditary lymphedema is caused by genetic mutations that affect the development and function of the lymphatic system.
- The condition can be inherited from either parent, with an equal risk of transmission to each child.
- It typically affects the lower limbs, but can also occur in other parts of the body.
Symptoms:
- Chronic swelling (edema) in affected areas
- Skin thickening and hardening (fibrosis)
- Recurring infections and inflammation
Types of Hereditary Lymphedema:
- Milroy disease: a rare condition that affects the normal function of the lymphatic system.
- Meige disease: characterized by abnormal transport of lymphatic fluid, leading to swelling in the lower limbs.
- Lymphedema-distichiasis: a rare autosomal dominant disorder that presents as primary lymphedema of the limbs.
References:
- [1] Hereditary lymphedema is a type of lymphedema that's genetic. (Source: 1)
- Primary lymphedema is a genetic condition affecting the lymphatic system and is characterized by chronic swelling (edema) of affected parts of the body, usually most commonly the lower limbs. (Source: 2)
- Congenital onset lymphedema, the swelling of the extremities due to failure in the development and/or function of the lymphatics, leading to the accumulation of lymph in the interstitial fluid space. (Source: 3)
Additional Characteristics
- Hereditary lymphedema
- genetic mutations that affect the development and function of the lymphatic system
- chronic swelling (edema)
- skin thickening and hardening (fibrosis)
- recurring infections and inflammation
- Milroy disease
- Meige disease
- lymphedema-distichiasis
Signs and Symptoms
Hereditary lymphedema, also known as primary lymphedema, is a genetic condition that affects the lymphatic system, leading to chronic swelling (edema) in affected parts of the body.
Common Signs and Symptoms:
- Swelling of part or all of the arm or leg, including fingers or toes [1]
- A feeling of heaviness or tightness in the limbs [3]
- Swelling may develop slowly, and you may not notice unusual swelling in lymphedema's early stages [2]
- Distal swelling in the extremities, including the arms, hands, legs, feet [5]
- Swelling proximally in the arm or leg, which can lead to a sensation of tightness or heaviness [5]
Additional Symptoms:
- Up-slanting toenails [4]
- Deep creases in the toes
- Wart-like growths (papillomas)
- Prominent leg veins [4]
- Swelling in the foot, ankle, calf, and/or thigh [6]
- Swelling in the hand or arm [6]
- A sensation of tightness or heaviness in the limbs [6]
Complications:
- Repeated skin infections
- Developing hard, tight or thickened skin
- Folds in the skin that can become infected
It's essential to note that these symptoms can vary from person to person and may not be present in all individuals with hereditary lymphedema. If you suspect you or a family member has this condition, consult a medical professional for proper diagnosis and treatment.
References: [1] - Search result 3 [2] - Search result 2 [3] - Search result 3 [4] - Search result 4 [5] - Search result 5 [6] - Search result 6
Additional Symptoms
- Swelling of part or all of the arm or leg, including fingers or toes
- A feeling of heaviness or tightness in the limbs
- Distal swelling in the extremities, including the arms, hands, legs, feet
- Swelling proximally in the arm or leg, which can lead to a sensation of tightness or heaviness
- Up-slanting toenails
- Deep creases in the toes
- Wart-like growths (papillomas)
- Prominent leg veins
- or thigh
- Swelling in the hand or arm
- A sensation of tightness or heaviness in the limbs
Diagnostic Tests
Based on the provided context, here are some diagnostic tests associated with hereditary lymphedema:
- Lymphoscintigraphy: This imaging test is used to evaluate the function and structure of the lymphatic system (2). It involves injecting a small amount of radioactive material into the affected area, which is then tracked using a special camera.
- Computed Tomography (CT) scanning and Magnetic Resonance Imaging (MRI): These imaging tests can be used to evaluate the extent of lymphedema and identify any underlying structural abnormalities in the lymphatic system (7).
- Genetic testing: Genetic diagnosis can confirm the clinical diagnosis of hereditary lymphedema and establish the subtype of the lymphatic malformation syndrome (5, 9). This involves analyzing DNA samples from affected individuals to identify specific genetic mutations.
- Imaging services: Various imaging services such as X-ray, ultrasound, CT scans, MRI, and screening mammograms are available at facilities like Novant Health Imaging Museum (11) and Carolinas Imaging Services (14).
It's worth noting that the diagnosis of hereditary lymphedema is primarily based on clinical assessment and imaging with lymphoscintigraphy (2). However, genetic testing can provide additional information to confirm the diagnosis and establish the subtype of the lymphatic malformation syndrome.
References: (2) GE Jones · 2017 · Cited by 26 (5) Nov 13, 2023 (7) Apr 18, 2023 (9) Department of Genetics Perelman School of Medicine at the University of Pennsylvania Lymphedema Forms (11) Novant Health Imaging Museum offers imaging services: MRI scans, CT scans, X-rays, ultrasounds & screening mammograms. (14) Carolinas Imaging Services is a joint venture between Charlotte ...
Additional Diagnostic Tests
- Magnetic Resonance Imaging (MRI)
- Genetic testing
- Lymphoscintigraphy
- Computed Tomography (CT) scanning
Treatment
Treatment Options for Hereditary Lymphedema
Hereditary lymphedema, also known as Milroy disease, is a rare genetic disorder that affects the lymphatic system, leading to chronic swelling and pain in the affected limbs. While there is no cure for this condition, various treatment options can help manage its symptoms.
Medications
Several medications have been studied for their potential benefits in treating hereditary lymphedema:
- Ketoprofen: A nonsteroidal anti-inflammatory drug (NSAID) that has shown promise in reducing swelling and pain in patients with lymphedema. Studies have demonstrated its effectiveness in improving skin damage and reducing symptoms [1, 2].
- Doxycycline: An antibiotic that has been used to treat secondary infections associated with lymphedema. However, its efficacy in treating the underlying condition is still being researched [3].
Other Treatments
In addition to medications, other treatments can help manage hereditary lymphedema:
- Compression therapy: Wearing compression garments or using compression bandages can help reduce swelling and improve mobility.
- Physical therapy: Gentle exercises and physical therapy can help maintain range of motion and reduce pain.
- Lifestyle modifications: Maintaining a healthy weight, engaging in regular exercise, and avoiding smoking can all contribute to better overall health and reduced symptoms.
Current Research
Researchers are actively exploring new treatment options for hereditary lymphedema. For example, studies have investigated the use of topical emollients and keratolytics, such as ammonium lactate, urea, and salicylic acid, to improve secondary epidermal changes [4].
While these treatments can help manage symptoms, it's essential to note that there is no cure for hereditary lymphedema. A multidisciplinary approach, involving a healthcare provider, physical therapist, and other specialists, can provide comprehensive care and support.
References:
[1] May 10, 2017 — This led to his team's discovery that the anti-inflammatory drug ketoprofen successfully helped to relieve lymphedema symptoms, although it wasn't specifically designed for this purpose. (Search result 1)
[2] Oct 18, 2018 — Two early-stage clinical trials led by Stanford researchers have shown that ketoprofen can improve skin damage in patients with lymphedema. (Search result 4)
[3] by S Brown · Cited by 3801 — Based on these results, the authors reached a consensus recommending a 6-week course of doxycycline treatment once a year or every other year... (Search result 2)
[4] Apr 18, 2023 — Topical emollients and keratolytics, such as ammonium lactate, urea, and salicylic acid, have been recommended to improve secondary epidermal changes. (Search result 5)
Recommended Medications
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Hereditary lymphedema, also known as primary lymphedema, is a genetic condition that affects the lymphatic system and is characterized by chronic swelling (edema) of affected parts of the body.
Common Differential Diagnoses:
- Turner syndrome: A genetic disorder that affects females, causing short stature, infertility, and other physical characteristics. Lymphedema can be a feature of Turner syndrome [2].
- Noonan syndrome: A genetic disorder that affects both males and females, causing heart defects, short stature, and other physical characteristics. Lymphedema can be a feature of Noonan syndrome [2].
- Meige disease: A rare genetic disorder that causes lymphedema, lipomas (fatty tumors), and other physical characteristics [8].
- Lymphedema-distichiasis: A rare genetic disorder that causes lymphedema, distichiasis (double eyelashes), and other physical characteristics [8].
- Milroy disease: A rare genetic disorder that causes congenital lymphedema, often presenting in infancy or early childhood [6].
Other Differential Diagnoses:
- Chronic venous insufficiency (CVI): A condition where the veins have difficulty returning blood to the heart, leading to swelling and other symptoms.
- Postphlebitic syndrome: A condition that occurs after a deep vein thrombosis (DVT), causing chronic swelling and other symptoms.
- Myxedema: A condition caused by hypothyroidism, leading to swelling of the skin and underlying tissues.
- Lipedema: A condition characterized by abnormal growth of fat cells in the legs, hips, and buttocks.
Genetic Testing:
A primary lymphedema multigene panel that includes FOXC2 and other genes of interest can help identify the genetic cause of hereditary lymphedema [13].
References:
[1] Schwartz RA, James WD. Lymphedema Differential Diagnoses. Updated: Apr 18, 2023.
[2] Jones GE. Common genetic conditions associated with lymphoedema. 2017.
[3] Banner L. The hereditary lymphedemas have been classified by age of onset and then stratified by clinical criteria and genetic testing. 2023.
[4] Schwartz RA, James WD. Lymphedema Differential Diagnoses. Updated: Apr 18, 2023.
[5] Tiwari A. Swelling associated with lymphedema can occur anywhere in the body, including the arms, legs, genitals, face, neck, chest wall, and oral cavity. 2019.
[6] Schwartz RA, James WD. Lymphedema Differential Diagnoses. Updated: Apr 18, 2023.
[7] Banner L. The hereditary lymphedemas have been classified by age of onset and then stratified by clinical criteria and genetic testing. 2023.
[8] Schwartz RA, James WD. Lymphedema Differential Diagnoses. Updated: Apr 18, 2023.
[9] Tiwari A. Swelling associated with lymphedema can occur anywhere in the body, including the arms, legs, genitals, face, neck, chest wall, and oral cavity. 2019.
[10] Schwartz RA, James WD. Lymphedema Differential Diagnoses. Updated: Apr 18, 2023.
[11] Tiwari A. Swelling associated with lymphedema can occur anywhere in the body, including the arms, legs, genitals, face, neck, chest wall, and oral cavity. 2019.
[12] Schwartz RA, James WD. Lymphedema Differential Diagnoses. Updated: Apr 18, 2023.
[13] Banner L. The hereditary lymphedemas have been classified by age of onset and then stratified by clinical criteria and genetic testing. 2023.
Additional Differential Diagnoses
- Meige disease
- Lipedema
- chronic venous insufficiency
- Noonan syndrome 8
- disease
- syndrome
- lymphedema-distichiasis syndrome
- myxedema
- Turner syndrome
Additional Information
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