hereditary lymphedema ID

Hereditary lymphedema, also known as Milroy disease, is a rare genetic condition that affects the normal function of the lymphatic system.

• Definition: Hereditary lymphedema is characterized by chronic swelling (edema) of the affected limbs due to failure in the development and/or function of the lymphatic vessels [1].
• Inheritance pattern: This condition is inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene is enough to cause the condition [2][3].
• Genetic basis: The mutation responsible for hereditary lymphedema has been identified as a mutation in the VEGFC gene on chromosome 4q34 [2][3].
• Age of onset: The swelling typically begins at birth or shortly after, and can be present throughout life [7].

Hereditary lymphedema is often associated with other symptoms, such as distichiasis (an extra row of eyelashes), but the primary symptom is chronic swelling of the affected limbs.

References: [1] Congenital onset lymphedema [2] Autosomal dominant inheritance and mutation in VEGFC gene [3] Material basis in mutation in VEGFC gene on chromosome 4q34 [7] Onset typically at birth or shortly after

Based on the provided context, here are the signs and symptoms of hereditary lymphedema:

Common Features

• Swelling (edema) in one or both arms or legs [2]
• A feeling of heaviness or tightness in the affected limb [2]
• Skin changes, such as:
  • Redness [8]
  • Puffiness [8]
  • Hardening or thickening of the skin [8]
• Repeated skin infections [8]

Rare but Possible Features

• Upslanting toenails [5]
• Deep creases in the toes [5]
• Wart-like growths (papillomas) [5]
• Prominent leg veins [5]
• Antenatal hydrops or cystic hygroma [6]
• Short stature [6]
• Mild learning difficulties [6]
• Congenital heart disease, such as coarctation of the aorta [6]

Other Possible Symptoms

• Clothing and jewelry that feel too tight due to swelling [14]
• Skin that looks grainy or dense and fibrous over time [14]

Please note that these symptoms may not be present in all cases of hereditary lymphedema, and some individuals may experience additional symptoms not listed here. It's also worth noting that the severity and progression of the condition can vary widely among affected individuals.

References:

[2] Lymphedema is swelling in an arm or a leg. [5] Males and females may have upslanting toenails, deep creases in the toes, wart-like growths (papillomas), and prominent leg veins. [6] by GE Jones · 2017 · Cited by 26 — Common features include antenatal hydrops or cystic hygroma, short stature, mild learning difficulties, congenital heart disease (commonly coarctation of the ... [8] Symptoms of lymphoedema · an aching, heavy feeling · difficulty with movement · repeated skin infections · developing hard, tight or thickened skin · folds ... [14] Over time, it can become more dense and fibrous, making your skin look grainy. Other symptoms of lymphedema may include: Clothing and jewelry that feel too tight. Skin that looks red, puffy, or ...

Based on the provided context, here are some diagnostic tests associated with hereditary lymphedema:

• Genetic testing: This can confirm the clinical diagnosis and establish the subtype of the lymphatic malformation syndrome [6]. Genetic tests can detect genetic variants of lymphedema, as studied in [2].
• Computed Tomography (CT) scanning and Magnetic Resonance Imaging (MRI): These imaging techniques have been advocated for evaluation of lymphedema [5].
• Imaging services: Various medical facilities offer imaging services such as MRI scans, CT scans, X-rays, ultrasounds & screening mammograms [10][11].

It's worth noting that genetic diagnosis can provide a specific lymphedema susceptibility locus and is a starting point for the analysis of expressed genes on distal chromosome 5q [8]. Additionally, diagnostic medical sonography programs integrate didactic, laboratory, and clinical experiential learning to provide patient services using diagnostic techniques under the supervision of a licensed Doctor of Medicine or osteopathy [13].

References: [2] by G Bonetti · 2022 · Cited by 10 [5] Apr 18, 2023 [6] Nov 13, 2023 [8] by RE Ferrell · 1998 · Cited by 323 [10] CIS (Charlotte Radiology and Atrium Health) [11] Novant Health Imaging Museum [13] Diagnostic Medical Sonography Program

Based on the search results, it appears that there are various treatments available for hereditary lymphedema.

• Compression therapy and maintaining a normal body weight can help limit the severity of symptoms [3].
• Topical emollients and keratolytics such as ammonium lactate, urea, and salicylic acid have been recommended to improve secondary epidermal changes [5].
• Physical therapy or other treatments may be used to keep lymphatic fluid moving and reduce swelling and pain [8].

It's worth noting that there is no cure for primary lymphedema, but these treatments can help manage symptoms.

Additionally, research has shown that certain medications such as ketoprofen may have a positive effect on relieving lymphedema symptoms [1][4]. However, more studies are needed to confirm the effectiveness of these treatments.

It's also important to note that treatment for lymphedema depends on the severity and extent of the condition, and prevention and controlling symptoms are key since there is no cure [6].

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 ... [3] There is no cure for primary lymphedema. However, an effective compression regimen, active lifestyle and maintenance of normal body weight will limit ... [4] Oct 18, 2018 — Two early-stage clinical trials led by Stanford researchers have shown that ketoprofen can improve skin damage in patients with lymphedema. [5] Apr 18, 2023 — Topical emollients and keratolytics, such as ammonium lactate, urea, and salicylic acid, have been recommended to improve secondary epidermal changes. [6] Treatment for lymphedema depends on the severity and extent of the condition. Prevention and controlling symptoms are important since there is no cure. [8] Treatments may include physical therapy or other treatment to keep lymphatic fluid moving and reduce swelling and pain. Your healthcare provider may also ...

Hereditary Lymphedema Type I (HLI) is a rare genetic disorder that affects the lymphatic system, leading to swelling in the limbs. When diagnosing HLI, it's essential to consider other conditions that may present with similar symptoms.

Differential Diagnosis:

• Non-lymphatic edema: This condition can cause swelling in the limbs due to various reasons such as injury, infection, or medication side effects.
• Noonan syndrome: A genetic disorder that affects the development of the lymphatic system and can lead to lymphedema.
• Turner syndrome: A genetic disorder that affects females, which can also lead to lymphedema.
• Meige lymphedema (hereditary lymphedema): A rare genetic disorder that affects the lymphatic system and can cause swelling in the limbs.

According to [9], the differential diagnosis of HLI is carried out with these conditions. It's crucial to rule out other causes of lymphedema before making a definitive diagnosis of HLI.

Risk Factors:

• Certain hereditary syndromes, such as Noonan syndrome and Turner syndrome
• Genetic mutations that affect the lymphatic system
• Malignancy and its treatments (e.g., surgery, radiation)
• Trauma or injury to the affected limb

According to [10], these risk factors can contribute to the development of lymphedema. A thorough medical history and physical examination are essential in diagnosing HLI and ruling out other conditions.

References: [9] by H Werner — The differential diagnosis is carried out with non-lymphatic edema, Noonan syndrome, Turner syndrome, Meige lymphedema (hereditary ... [10] Jun 14, 2024 — The main risk factors for the development of lymphedema include certain hereditary syndromes, genetic mutations, malignancy and its treatments, ...