What are the other Names for this Condition? (Also known as/Synonyms)

• Bockenheimer Syndrome
• Bockenheimer's Syndrome

What is Genuine Diffuse Phlebectasia? (Definition/Background Information)

• Genuine Diffuse Phlebectasia or Bockenheimer's Syndrome is a very rare condition characterized by an extensive venous malformation involving all veins, including the smallest ones, on the arms and legs. It is present at birth (congenital) and is progressive during life
• The venous dilatation can be seen beneath the skin on the arms and legs. It is more common on a single arm and hand, but may occur on both sides. The involved arm or leg may be thicker than the normal one. Pain, swelling, muscle wasting, and ulceration can occur
• The cause of Genuine Diffuse Phlebectasia is unknown. The treatment of Genuine Diffuse Phlebectasia may include surgery, embolization, and elastic stockings

(Source: Genuine Diffuse Phlebectasia; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

Who gets Genuine Diffuse Phlebectasia? (Age and Sex Distribution)

• Genuine Diffuse Phlebectasia is a rare congenital disorder. The presentation of symptoms may occur at birth 
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Genuine Diffuse Phlebectasia? (Predisposing Factors)

• Currently, no risk factors have been clearly identified for Genuine Diffuse Phlebectasia

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Genuine Diffuse Phlebectasia? (Etiology)

The exact cause of Genuine Diffuse Phlebectasia is not known at the present time.

What are the Signs and Symptoms of Genuine Diffuse Phlebectasia?

The signs and symptoms of Genuine Diffuse Phlebectasia may occur in one or both arms, hands, and/or legs, and may include the following:

• Redness of skin which may be in patrches or diffused
• Visible dilatation of veins under the skin of affected arm, hand or leg
• Swelling 
• Pain
• Thickening of the affected limb

How is Genuine Diffuse Phlebectasia Diagnosed?

Genuine Diffuse Phlebectasia is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Genuine Diffuse Phlebectasia?

The complications of Genuine Diffuse Phlebectasia may include:

• Hemorrhage
• Excessive bleeding during surgical procedures
• Ulceration of skin
• Scarring due to ulcerations 
• Infection 
• Muscle wasting
• Increased risk of blood clots, which may lead to deep vein thrombosis or pulmonary embolism

Complications may occur with or without treatment, and in some cases, due to treatment also. Such complications may include:

• Increased risk of bleeding with low molecular weight heparin injections
• Scarring due to laser therapy

How is Genuine Diffuse Phlebectasia Treated?

There is no cure for Genuine Diffuse Phlebectasia, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops. The treatment methods may include:

• Use of compression bandages and stockings
• Medication for pain
• Embolization of an affected vein or veins
• Sclerotherapy to shrink the veins
• Laser therapy for correcting dilatation of superficial veins
• Surgery: Low molecular weight heparin (injected subcutaneously) may be necessary to prevent bleeding and clotting during procedures

How can Genuine Diffuse Phlebectasia be Prevented?

The cause and risk factors for Genuine Diffuse Phlebectasia are not known, and no preventive methods or guidelines are vaiavilable at the present time.

What is the Prognosis of Genuine Diffuse Phlebectasia? (Outcomes/Resolutions)

• Genuine Diffuse Phlebectasia is a progressive condition, and the prognosis is dependent upon the severity of the signs and symptoms, response to treatment and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Genuine Diffuse Phlebectasia:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/