New Long-Read Genetic Test Enables Faster and More Comprehensive Diagnosis of Rare Diseases
November 18, 2025
Background
A common condition referred to as chronic venous insufficiency or lower extremity chronic venous disease is one where reduced blood circulation of venous blood in the legs is observed.
It is an arterial disorder that entails primarily the adults though it impacts diverse demography. The lower limb venous system includes veins that are subcutaneous veins near the skin. Veins of blood also have flaps in them to allow blood to be pumped towards the heart and not allow it to pump in the opposite direction.
As for chronic venous disease, it appears when the volumes of the veins are either not functioning properly or inadequately strong and this leads to venous insufficiency. This may lead to backup of blood within the veins, high intravenous pressure and improper venous return. CVD’s signs and symptoms include Varicose veins, Venous ulcers, and skin changes.
Epidemiology
It is believed that as many as 6 to 7 million Americans suffer from a severe venous illness that could impact 1% and 17% of male and 1% and 40% of the female population. The greater prevalence in women is possibly associated with hormonal parameters and changes due to pregnancy affecting the venous flow. The total prevalence of chronic venous insufficiency usually is lower in regions in the non-western world than in the Western world.
Anatomy
Pathophysiology
Etiology
Genetics
Prognostic Factors
Clinical History
Age Group: Actual LECVD may concern individuals of any age nevertheless, the first symptoms which manifest a condition depend upon age:
Younger individuals: As to the younger patients LECVD is associated with primary venous insufficiency resulting from congenital disease or heredity.
Middle-aged adults: The patient is most likely to have primary and secondary venous insufficiency syndromes.
Physical Examination
Inspection: The healthcare provider will visually examine the lower extremities for signs of LECVD, which may include:
Age group
Associated activity
Acuity of presentation
The understanding of LECVD presentation can vary, ranging from the gradual onset and chronic progression to acute exacerbations:
Differential Diagnoses
Laboratory Studies
Imaging Studies
Procedures
Histologic Findings
Staging
Treatment Paradigm
Conservative Measures:
Pharmacological Therapy:
Minimally Invasive Procedures:
Surgical Interventions:
Management of Complications:
by Stage
by Modality
Chemotherapy
Radiation Therapy
Surgical Interventions
Hormone Therapy
Immunotherapy
Hyperthermia
Photodynamic Therapy
Stem Cell Transplant
Targeted Therapy
Palliative Care
role-of-non-invasive-approaches
Physical therapy:
Compression therapy: The action of pressure decreases the feeling of pain, feeling of being stuffed, and swelling of legs.
Exercise: It also necessitates contraction of the calf muscles to facilitate the circulation of blood in the leg.
Avoid prolonged periods of sitting or standing: Prolonged sitting or being stationary is bad for the blood circulation and is likely to provoke the LECVD.
Elevate the legs: Flexing at the hips, knowing that the patient’s legs are raised above their heart level also enables venous return and decreases swelling.
treatments-for-skin-changes-and-ulceration
Wound care: Specific wound care includes daily cleaning and dressing of ulcers, as well as the use of agents such as medication, special bandages & gauze used to cover the wound to promote new tissue formation.
Choice and efficacy in compression therapy
DermatologyÂ
Superficial venous insufficiency and varicose veins are widely used and recognized as clinical signs of lower extremity CEVD.
Superficial Venous Insufficiency is scientifically defined as a condition in which the valves that are present in the superficial veins of the legs do not work properly and as a result blood flows backwards. This reflux puts pressure on the veins and cause some symptoms, these include leg pain, swelling, leg that feels heavy, and varicosity on the legs.
Another category of lower extremity CEVD is deep venous insufficiency (DVI), which concerns the deep veins in the legs. It happens when the deep vein valves are incompetent due to anatomical insufficiency; this hampers the circulation of venous blood and results in congregation of blood in the lower limbs.
Role of topical agents in Ulcer care
Systemic Antibiotics:
Ciprofloxacin is a fluorescent antibacterial drug with the broad spectrum of activity and the member of a fluoroquinolone group. It has bactericidal action against many bacteria including both the Gram positive and negative bacteria. Ciprofloxacin can be used administratively in infected ulcers, mainly if the ulceration is caused by Gram-negative bacteria such as pseudomonas. It achieves this by binding to the bacterial DNA gyrase to prevent the replication and growth of the bacteria.
Topical Agents:Â
Silver sulfadiazine:
Silver sulfadiazine is used as topical antiseptic agent, which has been long utilized in a treatment of the wounds and burns, partial-thickness wounds and in skin graft donor areas. It releases the silver ions known to have a lethal effect on bacterial life and can inhibit them. A review conducted reported that there was inadequacy of data that would favor its use in the routine management of prevention of infection or venous ulcer healing.
Use of anti-thrombotic agents in the treatment of resistant ulcers
Aspirin: Controlled trials or meta-analyses have not been able to retrieve significant results to suggest that aspirin usage is appropriate for treating venous ulcers.
Pentoxifylline: When Pentoxifylline is used as an adjunct to compression therapy, it has proved more helpful in completely healing or partially healing ulcers than the control, either by placebo or no intervention. On the other hand, gastrointestinal side effects are relatively well-known in pentoxifylline treatment.
role-of-management-in-lower-extremity-chronic-venous-disease
Diagnosis and Assessment:
Clinical Examination: Clinical interrogation and medical assessment are used to detect abnormal findings.
Imaging: Doppler ultrasound helps analyze the venous structure and dynamics of reflux and obstruction.
Conservative Management:
Lifestyle Modifications: Adopt a low-fat diet which requires less energy for fasting, avoided exercises that put a lot of pressure on the heart, and one should not sit or stand for long.
Compression Therapy: Use of stocking that tight around the legs to ensure that the blood circulation in the body is proper and hence reduce swelling.
Pharmacotherapy: Some treatments involve using medications like vasoactive agents to reduce the extent of symptoms.
Minimally Invasive Procedures:
Sclerotherapy: Sclerotherapy is done by injecting a sclerosing agent into the relevant veins to shut the veins.
Endovenous Ablation: Other procedures like EVLT or RFA to seal the varicose veins.
Post-Procedure Care and Monitoring:
Follow-up: Follow up to ensure any signs of reoccurrence are detected early and treatment of any complications.
Ongoing Compression Therapy: Treatment with compression stockings that may be recommended by the health care provider to be worn for an additional period.
Management of Complications:
Ulcer Care: Specialized wound care for venous ulcers.
Management of Recurrent Disease: Addressing new or recurrent varicose veins with appropriate treatments.
Medication
Indicated for Chronic venous disease
1,000 mg every day for nearly 3 to 6 months
Hemorrhoids
1,000 mg to 2,000 mg every day for four days, after that, 1,000 mg every day for three days
Varicose veins
1,000 mg to 2,000 mg every day for nearly 6 months
Future Trends
A common condition referred to as chronic venous insufficiency or lower extremity chronic venous disease is one where reduced blood circulation of venous blood in the legs is observed.
It is an arterial disorder that entails primarily the adults though it impacts diverse demography. The lower limb venous system includes veins that are subcutaneous veins near the skin. Veins of blood also have flaps in them to allow blood to be pumped towards the heart and not allow it to pump in the opposite direction.
As for chronic venous disease, it appears when the volumes of the veins are either not functioning properly or inadequately strong and this leads to venous insufficiency. This may lead to backup of blood within the veins, high intravenous pressure and improper venous return. CVD’s signs and symptoms include Varicose veins, Venous ulcers, and skin changes.
It is believed that as many as 6 to 7 million Americans suffer from a severe venous illness that could impact 1% and 17% of male and 1% and 40% of the female population. The greater prevalence in women is possibly associated with hormonal parameters and changes due to pregnancy affecting the venous flow. The total prevalence of chronic venous insufficiency usually is lower in regions in the non-western world than in the Western world.
Age Group: Actual LECVD may concern individuals of any age nevertheless, the first symptoms which manifest a condition depend upon age:
Younger individuals: As to the younger patients LECVD is associated with primary venous insufficiency resulting from congenital disease or heredity.
Middle-aged adults: The patient is most likely to have primary and secondary venous insufficiency syndromes.
Inspection: The healthcare provider will visually examine the lower extremities for signs of LECVD, which may include:
The understanding of LECVD presentation can vary, ranging from the gradual onset and chronic progression to acute exacerbations:
Conservative Measures:
Pharmacological Therapy:
Minimally Invasive Procedures:
Surgical Interventions:
Management of Complications:
Dermatology, General
Vascular Medicine
Physical therapy:
Compression therapy: The action of pressure decreases the feeling of pain, feeling of being stuffed, and swelling of legs.
Exercise: It also necessitates contraction of the calf muscles to facilitate the circulation of blood in the leg.
Avoid prolonged periods of sitting or standing: Prolonged sitting or being stationary is bad for the blood circulation and is likely to provoke the LECVD.
Elevate the legs: Flexing at the hips, knowing that the patient’s legs are raised above their heart level also enables venous return and decreases swelling.
Dermatology, General
Vascular Medicine
Wound care: Specific wound care includes daily cleaning and dressing of ulcers, as well as the use of agents such as medication, special bandages & gauze used to cover the wound to promote new tissue formation.
Dermatology, General
Vascular Medicine
DermatologyÂ
Superficial venous insufficiency and varicose veins are widely used and recognized as clinical signs of lower extremity CEVD.
Superficial Venous Insufficiency is scientifically defined as a condition in which the valves that are present in the superficial veins of the legs do not work properly and as a result blood flows backwards. This reflux puts pressure on the veins and cause some symptoms, these include leg pain, swelling, leg that feels heavy, and varicosity on the legs.
Another category of lower extremity CEVD is deep venous insufficiency (DVI), which concerns the deep veins in the legs. It happens when the deep vein valves are incompetent due to anatomical insufficiency; this hampers the circulation of venous blood and results in congregation of blood in the lower limbs.
Dermatology, Cosmetic
Infectious Disease
Surgery, Vascular
Vascular Medicine
Systemic Antibiotics:
Ciprofloxacin is a fluorescent antibacterial drug with the broad spectrum of activity and the member of a fluoroquinolone group. It has bactericidal action against many bacteria including both the Gram positive and negative bacteria. Ciprofloxacin can be used administratively in infected ulcers, mainly if the ulceration is caused by Gram-negative bacteria such as pseudomonas. It achieves this by binding to the bacterial DNA gyrase to prevent the replication and growth of the bacteria.
Topical Agents:Â
Silver sulfadiazine:
Silver sulfadiazine is used as topical antiseptic agent, which has been long utilized in a treatment of the wounds and burns, partial-thickness wounds and in skin graft donor areas. It releases the silver ions known to have a lethal effect on bacterial life and can inhibit them. A review conducted reported that there was inadequacy of data that would favor its use in the routine management of prevention of infection or venous ulcer healing.
General Practice
Vascular Medicine
Aspirin: Controlled trials or meta-analyses have not been able to retrieve significant results to suggest that aspirin usage is appropriate for treating venous ulcers.
Pentoxifylline: When Pentoxifylline is used as an adjunct to compression therapy, it has proved more helpful in completely healing or partially healing ulcers than the control, either by placebo or no intervention. On the other hand, gastrointestinal side effects are relatively well-known in pentoxifylline treatment.
General Practice
Surgery, Vascular
Diagnosis and Assessment:
Clinical Examination: Clinical interrogation and medical assessment are used to detect abnormal findings.
Imaging: Doppler ultrasound helps analyze the venous structure and dynamics of reflux and obstruction.
Conservative Management:
Lifestyle Modifications: Adopt a low-fat diet which requires less energy for fasting, avoided exercises that put a lot of pressure on the heart, and one should not sit or stand for long.
Compression Therapy: Use of stocking that tight around the legs to ensure that the blood circulation in the body is proper and hence reduce swelling.
Pharmacotherapy: Some treatments involve using medications like vasoactive agents to reduce the extent of symptoms.
Minimally Invasive Procedures:
Sclerotherapy: Sclerotherapy is done by injecting a sclerosing agent into the relevant veins to shut the veins.
Endovenous Ablation: Other procedures like EVLT or RFA to seal the varicose veins.
Post-Procedure Care and Monitoring:
Follow-up: Follow up to ensure any signs of reoccurrence are detected early and treatment of any complications.
Ongoing Compression Therapy: Treatment with compression stockings that may be recommended by the health care provider to be worn for an additional period.
Management of Complications:
Ulcer Care: Specialized wound care for venous ulcers.
Management of Recurrent Disease: Addressing new or recurrent varicose veins with appropriate treatments.
A common condition referred to as chronic venous insufficiency or lower extremity chronic venous disease is one where reduced blood circulation of venous blood in the legs is observed.
It is an arterial disorder that entails primarily the adults though it impacts diverse demography. The lower limb venous system includes veins that are subcutaneous veins near the skin. Veins of blood also have flaps in them to allow blood to be pumped towards the heart and not allow it to pump in the opposite direction.
As for chronic venous disease, it appears when the volumes of the veins are either not functioning properly or inadequately strong and this leads to venous insufficiency. This may lead to backup of blood within the veins, high intravenous pressure and improper venous return. CVD’s signs and symptoms include Varicose veins, Venous ulcers, and skin changes.
It is believed that as many as 6 to 7 million Americans suffer from a severe venous illness that could impact 1% and 17% of male and 1% and 40% of the female population. The greater prevalence in women is possibly associated with hormonal parameters and changes due to pregnancy affecting the venous flow. The total prevalence of chronic venous insufficiency usually is lower in regions in the non-western world than in the Western world.
Age Group: Actual LECVD may concern individuals of any age nevertheless, the first symptoms which manifest a condition depend upon age:
Younger individuals: As to the younger patients LECVD is associated with primary venous insufficiency resulting from congenital disease or heredity.
Middle-aged adults: The patient is most likely to have primary and secondary venous insufficiency syndromes.
Inspection: The healthcare provider will visually examine the lower extremities for signs of LECVD, which may include:
The understanding of LECVD presentation can vary, ranging from the gradual onset and chronic progression to acute exacerbations:
Conservative Measures:
Pharmacological Therapy:
Minimally Invasive Procedures:
Surgical Interventions:
Management of Complications:
Dermatology, General
Vascular Medicine
Physical therapy:
Compression therapy: The action of pressure decreases the feeling of pain, feeling of being stuffed, and swelling of legs.
Exercise: It also necessitates contraction of the calf muscles to facilitate the circulation of blood in the leg.
Avoid prolonged periods of sitting or standing: Prolonged sitting or being stationary is bad for the blood circulation and is likely to provoke the LECVD.
Elevate the legs: Flexing at the hips, knowing that the patient’s legs are raised above their heart level also enables venous return and decreases swelling.
Dermatology, General
Vascular Medicine
Wound care: Specific wound care includes daily cleaning and dressing of ulcers, as well as the use of agents such as medication, special bandages & gauze used to cover the wound to promote new tissue formation.
Dermatology, General
Vascular Medicine
DermatologyÂ
Superficial venous insufficiency and varicose veins are widely used and recognized as clinical signs of lower extremity CEVD.
Superficial Venous Insufficiency is scientifically defined as a condition in which the valves that are present in the superficial veins of the legs do not work properly and as a result blood flows backwards. This reflux puts pressure on the veins and cause some symptoms, these include leg pain, swelling, leg that feels heavy, and varicosity on the legs.
Another category of lower extremity CEVD is deep venous insufficiency (DVI), which concerns the deep veins in the legs. It happens when the deep vein valves are incompetent due to anatomical insufficiency; this hampers the circulation of venous blood and results in congregation of blood in the lower limbs.
Dermatology, Cosmetic
Infectious Disease
Surgery, Vascular
Vascular Medicine
Systemic Antibiotics:
Ciprofloxacin is a fluorescent antibacterial drug with the broad spectrum of activity and the member of a fluoroquinolone group. It has bactericidal action against many bacteria including both the Gram positive and negative bacteria. Ciprofloxacin can be used administratively in infected ulcers, mainly if the ulceration is caused by Gram-negative bacteria such as pseudomonas. It achieves this by binding to the bacterial DNA gyrase to prevent the replication and growth of the bacteria.
Topical Agents:Â
Silver sulfadiazine:
Silver sulfadiazine is used as topical antiseptic agent, which has been long utilized in a treatment of the wounds and burns, partial-thickness wounds and in skin graft donor areas. It releases the silver ions known to have a lethal effect on bacterial life and can inhibit them. A review conducted reported that there was inadequacy of data that would favor its use in the routine management of prevention of infection or venous ulcer healing.
General Practice
Vascular Medicine
Aspirin: Controlled trials or meta-analyses have not been able to retrieve significant results to suggest that aspirin usage is appropriate for treating venous ulcers.
Pentoxifylline: When Pentoxifylline is used as an adjunct to compression therapy, it has proved more helpful in completely healing or partially healing ulcers than the control, either by placebo or no intervention. On the other hand, gastrointestinal side effects are relatively well-known in pentoxifylline treatment.
General Practice
Surgery, Vascular
Diagnosis and Assessment:
Clinical Examination: Clinical interrogation and medical assessment are used to detect abnormal findings.
Imaging: Doppler ultrasound helps analyze the venous structure and dynamics of reflux and obstruction.
Conservative Management:
Lifestyle Modifications: Adopt a low-fat diet which requires less energy for fasting, avoided exercises that put a lot of pressure on the heart, and one should not sit or stand for long.
Compression Therapy: Use of stocking that tight around the legs to ensure that the blood circulation in the body is proper and hence reduce swelling.
Pharmacotherapy: Some treatments involve using medications like vasoactive agents to reduce the extent of symptoms.
Minimally Invasive Procedures:
Sclerotherapy: Sclerotherapy is done by injecting a sclerosing agent into the relevant veins to shut the veins.
Endovenous Ablation: Other procedures like EVLT or RFA to seal the varicose veins.
Post-Procedure Care and Monitoring:
Follow-up: Follow up to ensure any signs of reoccurrence are detected early and treatment of any complications.
Ongoing Compression Therapy: Treatment with compression stockings that may be recommended by the health care provider to be worn for an additional period.
Management of Complications:
Ulcer Care: Specialized wound care for venous ulcers.
Management of Recurrent Disease: Addressing new or recurrent varicose veins with appropriate treatments.

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