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At a glance

It is a very rare congenital disorder presenting with double row of eyelashes, lymphatic drainage dysfunction and sometimes cardiac and spinal anomalies. Other features include lower limbs lymphedema around puberty, varicose veins, ptosis, cardiac heart defects and dysrhythmias, cleft palate, and scoliosis.

Synonym

Lymphedema with Distichiasis.

History

In 1964, H. F. Falls and E. D. Kertesz described this hereditary disorder of lymphatic drainage combined with ocular and systemic complications, including spinal arachnoid cysts and congenital heart defects.

Incidence

It affects males and females in equal numbers. However, its onset in males is at an earlier age than females. The prevalence of this disorder in the general population remains unknown. Lymphedema-Distichiasis Syndrome is underdiagnosed which makes it difficult to determine its true frequency worldwide.

Genetic inheritance

It is believed inherited as an autosomal dominant with incomplete penetrance and variable expression caused by mutations in the FOXC2 gene on chromosome 16.

Diagnosis

Features are late-onset lymphedema (end of first decade of life) mainly involving the lower limbs and distichiasis (a double row of eyelashes). Lymphography shows abundant and dilated lymphatics in both legs and an absent or deformed thoracic duct.

Clinical aspects

Lymphedema is present from the knees downward and scrotal swelling may be considerable in males. Lymphedema usually presents during the second half of the first decade of life. One side may be affected many years before the other. Irritation of the cornea caused by the eyelashes, with corneal ulceration and scarring in some cases, brings the patient to the attention of an ophthalmologist. This form of lymphedema is associated with other congenital malformations, including (a) congenital heart disease (tetralogy of Fallot, patent ductus arteriosus, ventricular septal defect, atrial septal defect, coarctation of aorta, and pulmonary stenosis) and development of dilated cardiomyopathy; (b) spinal arachnoid cysts (in some patients, neurologic signs may be present); and (c) diverse anomalies of the vertebral column. The course and prognosis depend upon the extent and severity of the edema and the development of spinal column complications. Symptomatic management (compression, elevation, diuretics) of the edema is common. Removal of the lid hair to prevent ocular complications is done.

Precautions before anesthesia

Complete history and physical examination with special attention to the cardiac and spinal systems must be obtained. Investigations should be directed by history and clinical examination and may include hematocrit, ECG, chest radiography, echocardiography, and radionuclide imaging when necessary. Assess and document any neurologic deficits. Investigations include serum potassium (to exclude diuretic-induced hypokalemia) serum protein and albumin levels, and arterial blood gas analysis. Antibiotics for active infection of the edematous areas are to be continued but suitable antibiotic prophylaxis for cardiac lesions should also be used. ...

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