Klippel-Trénaunay-Weber syndrome
Encyclopedia
Klippel-Trénaunay-Weber syndrome, often simply Klippel-Trénaunay syndrome (KTS) and sometimes angioosteohypertrophy syndrome and hemangiectatic hypertrophy, is a rare
congenital
medical condition in which blood vessel
s and/or lymph vessels fail to form properly. The three main features are nevus flammeus
(port-wine stain), venous
and lymphatic
malformations, and soft-tissue
hypertrophy
of the affected limb.
is applied in those cases. ICD-10
currently uses the term "Klippel-Trénaunay-Weber syndrome".
In some cases, port-wine stains (capillary port wine type) may be absent. Such cases are very rare and may be classified as "atypical Klippel-Trenaunay syndrome".
KTS can either affect blood vessels, lymph vessels, or both. The condition most commonly presents with a mixture of the two. Those with venous involvement experience increased pain and complications.
Those with large AVMs are at risk of formation of blood clots in the vascular lesion, which may migrate to the lungs (pulmonary embolism
). If there is large-volume blood flow through the lesion, "high-output heart failure" may develop due to the inability of the heart to generate sufficient cardiac output.
At present, many of the symptoms may be treated, but there is no cure for Klippel-Trenaunay Syndrome.
has been the most widely used treatment for the syndrome, and has been used for decades. Progress has been made in this method over the course of the past couple decades, but it is still an invasive procedure, and has many complications. As other choices now exist for KTS patients, this method is generally reserved as a last resort.
Mayo Clinic
has reported the largest experience in managing KTS with major surgery. In 39 years at Mayo clinic the surgery team evaluated 252 consecutive cases of KTS, of which only 145 (57.5%) could be treated by primary surgery. The immediate success rate for treating varicose veins was only 40%, excision of vascular malformation was possible in 60%, debulking operations in 65%, and correction of bone deformity and limb length correction (epiphysiodesis) had 90 % success. All the procedures demonstrated high recurrence rate in the follow-up. Mayo clinic studies demonstrate that primary surgical management of KTS has limitations and non-surgical approaches need to be developed in order to offer a better quality of life for these patients. Major surgery including amputation and debulking surgery does not seem to offer any benefit on a long-term basis.
is a treatment for specific veins and vascular malformations in the affected area. It involves the injection of a chemical into the abnormal veins to cause thickening and obstruction of the targeted vessels. Such treatment may allow normal blood flow to resume. It is a non-surgical medical procedure and is not nearly as invasive as debulking. Ultrasound guided foam sclerotherapy is the state of the art new treatment which could potentially close many large vascular malformation
s. Debulking operations can result in major deformities and have a high potential for recurrence and nerve injuries.
Compression therapies are finding more use as of the last ten years. The greatest issue with KTS syndrome is that the blood flow and/or lymph flow may be impeded, and will pool in the affected area. This can cause pain, swelling, inflammations, and in some cases, even ulceration and infection. Among older children and adults, compression garment
s can be used to alleviate almost all of these, and when combined with elevation of the affected area and proper management, can result in a comfortable lifestyle for the patient without any surgery. Compression garments are also used lately after a debulking procedure to maintain the results of the procedure. For early treatment of infants and toddlers with KTS, custom compression garments are impractical because of the rate of growth. When children may benefit from compression therapies, wraps and lymphatic massage may be used. While compression garments or therapy are not appropriate for everyone, they are relatively cheap (compared to surgery), and have few side-effects. Possible side-effects include a slight risk that the fluids may simply be displaced to an undesirable location (e.g., the groin), or that the compression therapy itself further impedes circulation to the affected extremities.
and Paul Trénaunay in 1900; they referred to it as naevus vasculosus osteohypertrophicus. The German-British physician Frederick Parkes Weber
described cases in 1907 and 1918 that were similar but not identical to those described by Klippel and Trénaunay.
Rare disease
A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.Most rare diseases are genetic, and thus are present throughout the person's entire life, even if symptoms do not immediately appear...
congenital
Congenital disorder
A congenital disorder, or congenital disease, is a condition existing at birth and often before birth, or that develops during the first month of life , regardless of causation...
medical condition in which blood vessel
Blood vessel
The blood vessels are the part of the circulatory system that transports blood throughout the body. There are three major types of blood vessels: the arteries, which carry the blood away from the heart; the capillaries, which enable the actual exchange of water and chemicals between the blood and...
s and/or lymph vessels fail to form properly. The three main features are nevus flammeus
Port-wine stain
A port-wine stain or naevus flammeus is a vascular anomaly consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discoloration of the skin. They are so called for their colour, resembling that of port wine...
(port-wine stain), venous
Arteriovenous malformation
Arteriovenous malformation or AVM is an abnormal connection between veins and arteries, usually congenital. This pathology is widely known because of its occurrence in the central nervous system, but can appear in any location. An arteriovenous malformation is a vascular anomaly. It is a...
and lymphatic
Lymphatic system
The lymphoid system is the part of the immune system comprising a network of conduits called lymphatic vessels that carry a clear fluid called lymph unidirectionally toward the heart. Lymphoid tissue is found in many organs, particularly the lymph nodes, and in the lymphoid follicles associated...
malformations, and soft-tissue
Soft tissue
In anatomy, the term soft tissue refers to tissues that connect, support, or surround other structures and organs of the body, not being bone. Soft tissue includes tendons, ligaments, fascia, skin, fibrous tissues, fat, and synovial membranes , and muscles, nerves and blood vessels .It is sometimes...
hypertrophy
Hypertrophy
Hypertrophy is the increase in the volume of an organ or tissue due to the enlargement of its component cells. It should be distinguished from hyperplasia, in which the cells remain approximately the same size but increase in number...
of the affected limb.
Classification
There is disagreement as to how cases of KTS should be classified if there is an arteriovenous fistula present. Several authorities have suggested that the term Parkes Weber syndromeParkes Weber syndrome
Parkes Weber syndrome is a cutaneous condition characterized by an arteriovenous malformation that occurs in association with a cutaneous capillary malformation and skeletal or soft tissue hypertrophy.It may be associated with RASA1....
is applied in those cases. ICD-10
ICD-10
The International Statistical Classification of Diseases and Related Health Problems, 10th Revision is a medical classification list for the coding of diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases, as maintained by the...
currently uses the term "Klippel-Trénaunay-Weber syndrome".
Signs and symptoms
The birth defect is diagnosed by the presence of a combination of these symptoms (often on approximately ¼ of the body, though some cases may present more or less affected tissue):- One or more distinctive port-wine stainPort-wine stainA port-wine stain or naevus flammeus is a vascular anomaly consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discoloration of the skin. They are so called for their colour, resembling that of port wine...
s with sharp borders - Varicose veinsVaricose veinsVaricose veins are veins that have become enlarged and tortuous. The term commonly refers to the veins on the leg, although varicose veins can occur elsewhere. Veins have leaflet valves to prevent blood from flowing backwards . Leg muscles pump the veins to return blood to the heart, against the...
- Hypertrophy of bony and soft tissues, that may lead to local gigantismLocal gigantismLocal gigantism or localised gigantism is a condition in which a certain part of the body acquires larger than normal size due to excessive growth of the anatomical structures or abnormal accumulation of substances. It is more common in fingers and toes, where it is termed macrodactyly...
or shrinking. - An improperly developed lymph system
In some cases, port-wine stains (capillary port wine type) may be absent. Such cases are very rare and may be classified as "atypical Klippel-Trenaunay syndrome".
KTS can either affect blood vessels, lymph vessels, or both. The condition most commonly presents with a mixture of the two. Those with venous involvement experience increased pain and complications.
Those with large AVMs are at risk of formation of blood clots in the vascular lesion, which may migrate to the lungs (pulmonary embolism
Pulmonary embolism
Pulmonary embolism is a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body through the bloodstream . Usually this is due to embolism of a thrombus from the deep veins in the legs, a process termed venous thromboembolism...
). If there is large-volume blood flow through the lesion, "high-output heart failure" may develop due to the inability of the heart to generate sufficient cardiac output.
Genetics
The birth defect affects men and women equally, and is not limited to any racial group. It is not certain if it is genetic in nature, although testing is ongoing. There is some evidence that it may be associated with a translocation at t(8;14)(q22.3;q13). Some researchers have suggested VG5Q has an association.Treatment
KTS is a complex syndrome, and no single treatment is applicable for everyone. Treatment is decided on a case-by-case basis with the individual's doctors.At present, many of the symptoms may be treated, but there is no cure for Klippel-Trenaunay Syndrome.
Surgical
DebulkingDebulking
Debulking is the surgical removal of part of a malignant tumour which cannot be completely excised, so as to enhance the effectiveness of radiation or chemotherapy. It is used only in specific malignancies, as generally partial removal of a tumor is not considered a worthwhile intervention...
has been the most widely used treatment for the syndrome, and has been used for decades. Progress has been made in this method over the course of the past couple decades, but it is still an invasive procedure, and has many complications. As other choices now exist for KTS patients, this method is generally reserved as a last resort.
Mayo Clinic
Mayo Clinic
Mayo Clinic is a not-for-profit medical practice and medical research group specializing in treating difficult patients . Patients are referred to Mayo Clinic from across the U.S. and the world, and it is known for innovative and effective treatments. Mayo Clinic is known for being at the top of...
has reported the largest experience in managing KTS with major surgery. In 39 years at Mayo clinic the surgery team evaluated 252 consecutive cases of KTS, of which only 145 (57.5%) could be treated by primary surgery. The immediate success rate for treating varicose veins was only 40%, excision of vascular malformation was possible in 60%, debulking operations in 65%, and correction of bone deformity and limb length correction (epiphysiodesis) had 90 % success. All the procedures demonstrated high recurrence rate in the follow-up. Mayo clinic studies demonstrate that primary surgical management of KTS has limitations and non-surgical approaches need to be developed in order to offer a better quality of life for these patients. Major surgery including amputation and debulking surgery does not seem to offer any benefit on a long-term basis.
Nonsurgical
SclerotherapySclerotherapy
Sclerotherapy is a procedure used to treat blood vessels or blood vessel malformations and also those of the lymphatic system. A medicine is injected into the vessels, which makes them shrink. It is used for children and young adults with vascular or lymphatic malformations...
is a treatment for specific veins and vascular malformations in the affected area. It involves the injection of a chemical into the abnormal veins to cause thickening and obstruction of the targeted vessels. Such treatment may allow normal blood flow to resume. It is a non-surgical medical procedure and is not nearly as invasive as debulking. Ultrasound guided foam sclerotherapy is the state of the art new treatment which could potentially close many large vascular malformation
Vascular malformation
Vascular malformation is a term used to refer to blood vessel abnormalities. Vascular malformations and vascular tumors both belong to vascular anomaliesThere are many types, but the most common is arteriovenous malformation....
s. Debulking operations can result in major deformities and have a high potential for recurrence and nerve injuries.
Compression therapies are finding more use as of the last ten years. The greatest issue with KTS syndrome is that the blood flow and/or lymph flow may be impeded, and will pool in the affected area. This can cause pain, swelling, inflammations, and in some cases, even ulceration and infection. Among older children and adults, compression garment
Compression garment
Compression garments are pieces of clothing such as socks, pantyhose, sleeves, etc, that provide support that is especially useful for people who have to stand for long periods, or people with poor circulation. The garments can come in varying degrees of compression. The higher degrees require a...
s can be used to alleviate almost all of these, and when combined with elevation of the affected area and proper management, can result in a comfortable lifestyle for the patient without any surgery. Compression garments are also used lately after a debulking procedure to maintain the results of the procedure. For early treatment of infants and toddlers with KTS, custom compression garments are impractical because of the rate of growth. When children may benefit from compression therapies, wraps and lymphatic massage may be used. While compression garments or therapy are not appropriate for everyone, they are relatively cheap (compared to surgery), and have few side-effects. Possible side-effects include a slight risk that the fluids may simply be displaced to an undesirable location (e.g., the groin), or that the compression therapy itself further impedes circulation to the affected extremities.
History
The condition was first described by French physicians Maurice KlippelMaurice Klippel
Maurice Klippel was a French physician for whom the conditions Klippel-Feil syndrome and Klippel-Trenaunay-Weber syndrome are named....
and Paul Trénaunay in 1900; they referred to it as naevus vasculosus osteohypertrophicus. The German-British physician Frederick Parkes Weber
Frederick Parkes Weber
Frederick Parkes Weber was an English dermatologist who practiced medicine in London. His father, Sir Hermann David Weber was a personal physician to Queen Victoria....
described cases in 1907 and 1918 that were similar but not identical to those described by Klippel and Trénaunay.
External links
- Information from The Klippel-Trenaunay Syndrome Support Group
- KTS gene discovery implications
- New imaging techniques avoid unnecessary diagnostic tests for Klippel-Trénaunay vascular malformation from Basque Research