Lymphedema with Distichiasis

Very rare congenital disorder presenting with double row of eyelashes, lymphatic drainage dysfunction and sometimes cardiac and spinal anomalies.

Lymphedema-Distichiasis Syndrome.

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.

Autosomal dominant with incomplete penetrance and variable expression caused by mutations in the FOXC2 gene on chromosome 16.

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.

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.

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. Use of sedative premedication should be assessed on an individual basis. Dehydration should be prevented at all times in patients who are polycythemic (hematocrit >45%).

Venous cannulation is difficult in the affected areas. Careful positioning of the affected limbs is required to prevent pressure sores and trauma. Stockings and pneumatic devices can be useful to reduce further dependency-related edema during long operations. Antithromboembolic prophylaxis should be considered. Induction and maintenance of anesthesia in patients with cardiac lesions is dictated by the underlying pathophysiology. Elective admission to the intensive care unit should be provided for all patients undergoing major surgical procedures and for those with advanced cardiac disease. Eye ointment and padding should be provided in patients with ophthalmic lesions.

Low serum protein levels result in a higher free drug concentration; consequently, the dose of drugs that are highly protein bound (e.g., thiopentone) needs to be carefully titrated. Perioperative potassium supplementation may be required in patients on long-term diuretic therapy. In patients with cardiac lesions and dilated cardiomyopathy, avoid drugs known to induce myocardial depression and decrease preload. In presence of polycythemia, the use of dextran 40 or 70 should be considered as part of fluid management to reduce blood rheology.