Lymphedema-Distichiasis Syndrome

Lymphedema-Distichiasis Syndrome

Article
Ear, Nose, & Throat (ENT)
Eye & Vision
+7
Contributed byMaulik P. Purohit MD MPHAug 23, 2018

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

  • Distichiasis Heart Congenital Anomalies
  • Hereditary Lymphedema-Distichiasis Syndrome (subtype)
  • Lymphedema with Distichiasis

What is Lymphedema-Distichiasis Syndrome? (Definition/Background Information)

  • Lymphedema Distichiasis Syndrome is a condition that affects the normal function of the lymphatic system(part of the immune system that produces and transports fluids and immune cells throughout the body) 
  • People with this condition are born with extra eyelashes (distichiasis) and develop puffiness or swelling (lymphedema) of the limbs by the time they are in their forties
  • The abnormal eyelashes, which grow along the inner lining of the eyelid, often touch the eyeball and can cause damage to the clear covering of the eye (cornea) 
  • Other eye problems such as an irregular curvature of the cornea causing blurred vision (astigmatism) or scarring of the cornea may also occur
  • Other health problems,varicose veins, droopy eyelids (ptosis), heart abnormalities, and an opening in the roof of the mouth (cleft palate), may also be present
  • Lymphedema-Distichiasis Syndrome is caused by mutations in the FOXC2 gene. This condition is inherited in an autosomal dominant pattern

(Source: Lymphedema Distichiasis Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Lymphedema-Distichiasis Syndrome? (Age and Sex Distribution)

  • Lymphedema Distichiasis Syndrome 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 Lymphedema-Distichiasis Syndrome? (Predisposing Factors)

  • A positive family history may be an important risk factor, since Lymphedema-Distichiasis Syndrome can be inherited

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 Lymphedema Distichiasis Syndrome? (Etiology)

  • Lymphedema-Distichiasis Syndrome is caused by mutations in the FOXC2 gene 
  • This condition is inherited in an autosomal dominant pattern

(Source: Lymphedema Distichiasis Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Lymphedema Distichiasis Syndrome?

The signs and symptoms of Lymphedema-Distichiasis Syndrome vary, but may include:

Very frequently present symptoms in 80-99% of the cases:

  • Conjunctivitis
  • Corneal erosion
  • Distichiasis          
  • Photophobia      
  • Predominantly lower limb lymphedema               

Frequently present symptoms in 30-79% of the cases:

  • Cataract               
  • Ectropion             
  • Ptosis    
  • Varicose veins

Occasionally present symptoms in 5-29% of the cases:

  • Abnormality of the pulmonary vasculature          
  • Cleft upper lip                   
  • Diabetes mellitus             
  • Fibrosarcoma     
  • Glomerulopathy               
  • Patent ductus arteriosus              
  • Proteinuria         
  • Recurrent skin infections              
  • Recurrent urinary tract infections             
  • Renal duplication             
  • Spinalarachnoid cyst       
  • Tubulointerstitial nephritis           
  • Webbed neck    

In addition, signs and symptoms of corneal ulceration, lymphedema, recurrent corneal erosions, tetralogy of Fallot and ventricular septal defect may also be observed

(Source: Lymphedema Distichiasis Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Lymphedema Distichiasis Syndrome Diagnosed?

Lymphedema-Distichiasis Syndrome 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 Lymphedema Distichiasis Syndrome?

The complications of Lymphedema-Distichiasis Syndrome may include:

  • Respiratory distress
  • Abnormalities in heart function
  • Kidney damage
  • Spread of infection to the blood, causing sepsis

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

How is Lymphedema Distichiasis Syndrome Treated?

There is no cure for Lymphedema-Distichiasis Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops.

How can Lymphedema Distichiasis Syndrome be Prevented?

Lymphedema-Distichiasis Syndrome may not be preventable, since it is a genetic disorder.

  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
  • Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Lymphedema Distichiasis Syndrome? (Outcomes/Resolutions)

  • The prognosis of Lymphedema-Distichiasis Syndrome is dependent upon the severity of the signs and symptoms 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 Lymphedema Distichiasis Syndrome:

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

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

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Maulik P. Purohit MD MPH picture
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Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

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