What is Klippel Tremaunay Syndrome?
Klippel Trenaunay Syndrome (KTS) is a birth defect that causes abnormal growth of blood vessels and or the lymphatic system. This can affect both males and females equally and is known to affect every race. No one truly knows what causes KTS to happen and why it occurs where it does. The usual defect will appear in one area of the body while it may also occur in multiple locations as well. KTS can severely limit the abilities of a person with the type of pain that it can produce. There are no known cures for KTS and it is an ongoing/lifelong disability in many of the people that have it.
Where the Klippel Tremaunay Syndrome Nomenclature Originates From
The disorder was found by two different French physicians. Maurice Klippel and Paul Trenaunay, were the first to describe the conditions that caused this type of disorder in the year 1900. They originally called it naevus vasculossus osteohypertrophicus. In 1907 and 1918, Frederick Parkes Weber mentioned similar but not entirely identical cases to those of Kippel and Trenaunay. The disorder is currently known as the Klippel Trenaunay Syndrome as it is listed in the International Statistical Classification of Diseases and Related Health Problems Handbook, Volume 10.
Problems which Klippel Trenaunay Syndrome Causes
The main problems and symptoms of KTS are usually linked to the malformed blood vessels and or lymph vessels. Most commonly, a patient will end up feeling pain in the area where the KTS is affecting the body along with swelling and several other conditions. There are many different symptoms and problems that can really be more or less severe in different cases. Treatment options may or not be needed depending on the severity of the case.
The following can occur in KTS:
Port Wine Stains (PWS) – These are stain like lesions of skin that have a reddish to deep purple tint which are caused by an abundance of capillaries. These capillaries can grow with time and the area of the skin that is affected could grow bumps and thicken. They are seen at birth with a pinkish tint that darkens later on. Since patients with KTS often have malformed blood vessels, PWS can occur in many different areas of the body unlike normal PWS which often occurs usually on the face or head.
Varicose Veins – These types of veins are common in KTS because of the improper formation of the blood vessels. They can form wherever KTS is affecting the person and could occur in many places at once. They are causes because the valves that control the blood flow backwards (retrograding) are not fully formed in patients with KTS. The large and superficial veins are bluish in color and could be very itchy and cause other problems such as ulcers when scratched.
Hypertrophy – The increase in the size of cells in a location such as bone tissue or organ tissues is known as hypertrophy. This can occur anywhere in the body and is usually seen as a symptom of KTS. IT may also cause local gigantism of the area in which KTS is prominent. This can cause several problems for a person as it may make it very difficult to do normal things because of the increase in size and weight of the body part. This can become problematic as well if varicose veins are present as well.
Improperly Developed Lymph System – The improperly developed lymph system may cause a wide range of problems for those with KTS. The main thing that could happen is the buildup of lymphatic fluids which could cause damages to the tissues through expansion. This buildup of fluid can cause severe pain from the expansion of the tissues and the inability to remove the excess fluid from the system. The problems can lead to severe impairments when the lymph system is not in proper working order.
Similar Defects to Klippel Trenaunay Syndrome
There are similar defects such as the Parkes Webber Syndrome in which arteriovenous fistula occurs along with blood vessel and lymph vessel deformations are present. This is basically when there are a connective passageway between arteries and veins which could be dangerous if they are quite large. This condition was once known as KTS because of its similarity to the defects that they share. The main difference is the connections between the arteries and the veins being there.
Treatment Options and Outlook of the Condition
Since KTS is different in every person of whom it affects, the treatment options will generally be done on a case by case basis. There are not many treatment options for KTS as what occurs in the body is genetic and usually untreatable to the point of a cure. For the treatable conditions there are two possibilities to help reduce inflammation and other symptoms.
Surgical – The methods available for surgical treatments are very limited and can cause complications in the future. The most common technique used is debulking. This is the partial removal of the affected tissues, blood vessels and other tissues which are causing the painful complications in the body. This is not always a perfect solution and can cause other extensive damages which could even be life threatening situation in the future. This does not offer a very long term benefit for these patients and treatment could even lead to amputation of body parts which are still not a long term solution for the KTS affliction.
Non Surgical – Non surgical methods are always preferred but are also limited in effectiveness. Compression therapies make it possible to reduce swelling and help to control the pain and suffering due to blood vessel problems such as varicose veins. Chemicals could also be injected into larger veins to help thickening and obstruction of large vessels for better blood control. This is preferred over debulking because it prevents the need for risky and deforming method of removing flesh and other materials to treat KTS. One of the only other treatments that have varying amounts of success is massage. Massage treatment for KTS helps to reduce swelling and helps to redistribute the lymphatic fluids to help remove them from the body through other natural means such as urination.
Those who actively take care of their bodies can help to improve the affects of KTS and make it less painful as well as less noticeable. Those who have markings on visible parts of their body can mask the KTS birth marks and veins with makeup. Those who remove the faulty and unsightly veins through debulking can also relive pain in certain parts of their body such as the arms and legs. People can usually live a full and active life with the proper measures taken to proactively reduce the damaging effects of the condition. Exercise can also help to improve the overall health of the person who has the condition and effectively extend their longevity of they continue to work their body in a helpful manner. Those who have severe pains and damaging effects with KTS can also expect to live long lives. They can help to improve their condition with the surgical and non surgical options available to them.