ABC of arterial and venous disease Swollen lower limb2 Lymphoedema

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Peter S Mortimer

Lymph conducting pathways may become reduced in number, obliterated, obstructed, or dysfunctional (because of failure of contractility or valve incompetence). A lack of sensitive methods for investigation makes it difficult to distinguish between these mechanisms. A defect in the lymph conducting pathways leads to primary lymphoedema; in practice this means no identifiable outside cause can be found. Secondary lymphoedema is due to factors originating outside the lymphatic system.

Primary lymphoedema

Congenital lymphoedema presenting at or soon after birth is rare. A family history suggests Milroy's disease. Swelling invariably affects both lower limbs, but the upper limbs and face may also swell.

Limb swelling may be the presenting and major manifestation of congenital lymphatic malformations either in a pure form—for example, diffuse lymphangioma—or in combination with a congenital vascular syndrome—for example, Klippel-Trenaunay syndrome (varicose veins, excessive long bone growth, and vascular birthmark).

Most forms of primary lymphoedema present after puberty with foot and ankle swelling. Women are more often affected, and the condition may be familial—for example, Meige's disease. Lymph reflux due to lymphatic vessel hypertrophy or megalymphatics is clinically distinguishable.

Secondary lymphoedema

Lymphoedema manifesting with sudden onset of swelling of one whole leg suggests proximal obstruction. Pelvic causes of venous or lymphatic obstruction such as tumour or thrombosis must be excluded. In the Western world cancer treatment—for example, surgery or radiotherapy) is the commonest cause. Cancer itself rarely presents with lymphoedema except in advanced cases presenting late, such as prostate cancer, where venous obstruction may coexist. Relapsed tumour should always be considered in someone with limb swelling after apparent curative cancer treatment.

Filariasis is probably the most common cause of secondary lymphoedema worldwide and should be considered in any patient with lymphoedema who has travelled or lived in an endemic area.

Clinical diagnosis of lymphoedema

The clinical diagnosis of lymphoedema depends on the history and characteristic skin changes. Although most swelling occurs in the subcutaneous layer, the skin becomes thicker (as demonstrated by the inablity to pinch a fold of skin at the base of the second toe), skin creases become enhanced, and a warty texture (hyperkeratosis) and papillomatosis develop. Such skin changes are termed "elephantiasis."

The differential diagnosis includes venous oedema, "armchair legs," and lipodystrophy or lipoedema, which is often misdiagnosed as lymphoedema.

Primary lymphoedema |

Congenital (onset at or soon after birth)


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