Clinical aspects of congenital primary lymphedema

1. Introduction

Lymphedema is a specific type of edema with a chronic, progressive nature and is caused by a failure in the formation and/or drainage of lymph. A congenital or acquired abnormality in the lymphatic system results in the buildup of macromolecules in the interstitial space and the retention of fluids [1, 2].

The condition is classified as congenital primary lymphedema prior to two years of age, early primary lymphedema between two and 35 years of age and late primary lymphedema after 35 years of age [1, 2, 3, 4]. The literature is scant with regard to the prevalence of lymphedema, but it is estimated that 1.15 out of 100,000 children have congenital primary lymphedema in the United States. Menarche is associated with the emergence of early lymphedema [3]. A population-based estimate reports a prevalence rate of chronic edema of 1.33 out of every 1000 people, increasing to 5.4 out of every 1000 among individuals 65 years of age or older [4].

The evolution of therapies for lymphedema in children is hardly reported in the literature but the basis for treatment is comparable to that of adults [5]. The main forms of treatment are lymphatic drainage, compression mechanisms and lymphomyokinetic activities [2, 6, 7]. Regarding manual lymphatic drainage, the main existing techniques are Vodder’s with circle and semi-circle maneuvers [8] and Leduc’s with call and absorption movements [9]. The technique created by Godoy and Godoy differs with linear sliding movements over the vessel, following anatomy and physiology [10]. In recent years, Godoy and Godoy have suggested a new therapeutic option for the treatment of congenital primary lymphedema, involving cervical stimulation either alone or combined with compression methods [11, 12]. Cervical stimulation is performed lightly in the cervical region for 20 to 30 minutes, involving only the movement of the skin with no lymph node or lymphatic compression [13].

The aim of the present study is to report clinical findings related to edema and its location in children with primary lymphedema.

2. Methods

Sixty-eight children were evaluated which included 37 girls (54.41%) and 31 boys (45.59%). The location of edema is reported in Table 1. Unilateral lymphedema was more prevalent than bilateral lymphedema. The involvement of the lower limb was detected bilaterally in 22 children (32.35%) and unilaterally in 46 children (67.64%). When lymphedema was present unilaterally, 20 (29.41%) were affected in the left lower limb and 24 (35.29%) in the right. Two children (2.94%) had upper limb lymphedema alone and six (8.82%) had both upper and lower limb lymphedema, which was bilateral in four children (5.88%) and unilateral in two (2.94%). Lymphedema was found in the foreskin of two children (2.94%) and an amniotic band in one child (1.47%).

4. Discussion

The present findings show that congenital primary lymphedema, which is defined as lymphedema that emerges prior to two years of age, affects the lower limbs in an isolated manner more than the upper limbs. The involvement of all four limbs was only found in four children (5.88%). This form is more difficult to treat in comparison to unilateral involvement or an isolated limb. The foreskin of two males (2.94%) was affected. The need for surgery only occurred in one case of amniotic band.

These findings are similar to data described in the literature [10]. Due to the socioeconomic status of the patients, we rarely used diagnostic tests. Therefore, the diagnosis was largely clinical. In cases of doubt, the children were followed to monitor the progression of the edema. Exams were requested in cases of syndromes to evaluate systemic involvement. During the follow up of these children, two developed pleural and abdominal effusions. Therefore, further tests were necessary when the diagnosis is unclear.

It is also important to provide cost-effective care to these patients. The clinical diagnosis enables the reduction of diagnostic operational costs. All children underwent treatment with either cervical lymphatic therapy or hand-crafted compression stockings used either alone or in combination. This constituted low-cost, effective therapy, as demonstrated in a previous study evaluating this type of treatment [14, 15].

In congenital primary lymphedema, the clinical condition emerges prior to two years of age, whereas early primary lymphedema appears between two and 35 years of age. The early form accounts for approximately 90% of cases of primary lymphedema, but was not included in the present study.

During the treatment of these children, there were no cases of the emergence of edema in limbs that were not initially affected. This aspect is likely due to the treatment, which prevents the appearance of new sites of edema. Moreover, during the treatment of bilateral involvement, the edema decreased more quickly in limbs with the smaller volume of fluid.

5. Conclusion

In the cohort evaluated, congenital primary lymphedema was more prevalent in the lower limbs and in girls compared to boys.