Lymphoedema praecox in a young woman: a rare disease
- Sri Hari Priya Vemulakonda ,
- Naveen Kumar Gaur ,
- Oseen Hajilal Shaikh and
- Uday Shamrao Kumbhar
- Surgery, Jawaharlal Institute of Postgraduate Medical Education, Pondicherry, India
- Correspondence to Professor Uday Shamrao Kumbhar; k26uday74@yahoo.co.in
Abstract
Primary lymphoedema is a rare disorder. Often presents at a young age with asymptomatic limb oedema with gradual progression. We present a 16-year-old woman who presented with a history of swelling of the left lower limb for 6 years. There was the presence of isolated left lower limb oedema, which was a non-pitting type. The patient underwent imaging studies and was diagnosed to have primary lymphoedema. The patient was managed conservatively as the patient did not have any other problems other than the left lower limb oedema.
Background
Lymphoedema is an abnormal collection of interstitial protein-rich fluid. It is caused either due to an embryological maldevelopment (primary lymphoedema) or an acquired lymphatic obstruction (secondary lymphoedema). Primary lymphoedema is rare to occur. Diagnosis is usually by clinical and imaging findings. Treatment of primary lymphoedema depends on the grade of the disease and includes conservative and surgical approaches. We report a rare case of lymphoedema praecox in an adolescent female diagnosed with primary lymphoedema, diagnosed by imaging and managed conservatively.
Case presentation
A 16-year-old woman presented with swelling of the left lower limb, which was insidious onset over the past 6 years. The oedema increases with activity and decreases on rest and limb elevation. She had no pain, fever or lymphadenopathy. There is no family history of similar spontaneous limb oedema. On examination, there was unilateral oedema of the left lower limb extending from the foot up to the left knee (figure 1).There was a difference in the circumference of the limbs, which was 1 cm at the calf level and 1.5 cm in the ankle, and hence it was more prominent at the ankle level. The skin and its appendages were normal without any symptoms or signs of localised infection.
Clinical image showing left lower limb lymphoedema (arrow).
Oedema was pitting in nature without any erythema, warmth, tenderness or ulceration over the skin. Movements of the knee and ankle joints were normal. There was no ipsilateral or contralateral lymphadenopathy. Although her limbs appeared hairy, she had no other features of hirsutism elsewhere on her body. She does not have any signs or symptoms of other endocrine abnormalities that could lead to hirsutism. Examination of the contralateral lower limb and bilateral upper limbs was unremarkable.
Evaluation for filariasis, venous thrombosis, a malignant condition, liver, renal, cardiac or thyroid diseases were negative. Lymphoscintigraphy was done for further evaluation, which revealed no lymph nodes or lymphatic channels in bilateral lower limbs (figures 2 and 3). As it is the initial stage of lymphoedema, she was managed conservatively with compression stockings with regular follow-up.
Lymphoscintigraphy images of the left lower limb after contrast injection in anterior (yellow arrow) and posterior aspect (red arrow) of the foot, showing absence of the lymphatics in the limb, (A) taken immediately after contrast injection, (B) taken after 2 hours of contrast injection and (C) taken after 24 hours of contrast injection.
Lymphoscintigraphy images were taken postexercise showing, (A) absence of lymphatics in the right lower limb after injecting the contrast in anterior (yellow arrow) and posterior (red arrow) of the foot and (B) absence of lymphatics in left lower limb after injecting the contrast in anterior (yellow arrow) and posterior (red arrow) of the foot,.
Outcomes and Follow-up
The patient was followed up for the next 6 months, and there was no increase in the lymphoedema of the left leg.
Discussion
Lymphoedema is divided into primary and secondary. Primary lymphoedema is idiopathic and results from an error in lymphatic development. Secondary lymphoedema is acquired and caused by injury to a normally developed lymphatic system, primarily in adults, mostly due to filariasis, malignancy, surgery and trauma. Based on the age of the presentation, it can be classified as lymphoedema congenita (develops at birth), lymphoedema praecox (develops in adolescence) and lymphoedema tarda (develops after 35 years of age). Primary lymphoedema is seen almost exclusively in young women and girls and has a typical onset during puberty. It has an incidence of one in one million girls.1 2 Our patient was a young woman with insidious onset of lymphoedema.
Either primary or secondary lymphoedema, the pathological progression of the disease is the same. The accumulation of interstitial lymphatic fluid leads to increased adipose tissue and fibrosis. There are four stages of lymphoedema. Stage 0 indicates a normal extremity clinically but with abnormal lymph transport (diagnosed by lymphoscintigraphy). Stage 1 is early oedema, which improves with limb elevation. Stage 2 represents pitting oedema that does not resolve with elevation. Stage 3 describes fibroadipose deposition and skin changes. The severity of lymphoedema is categorised as mild (<20%), moderate (20%–40%) and severe (>40%) based on the increase in extremity volume.3 Our patient had stage 2 lymphoedema.
Primary lymphoedema presents in adolescents. The symptom of onset is usually preceded by trauma. However, seldom do patients remember the history of trauma. The presenting symptom would be painless oedema of the involved extremity, which progresses gradually and worsens with time. Due to the fibroadipose tissue deposition, which coincides with the growth spurt, there can be a limb length discrepancy. Secondary musculoskeletal discomfort can occur. A markedly enlarged lower extremity can inhibit ambulation. Lymphatic vesicles may bleed or leak lymph fluid (lymphorrhoea).
Lymphoedema in its early stages presents with mild pitting oedema, which is relieved with limb elevation, only in the later stages that we see the loss of hair. Occasional superadded infection over the existing disease can lead to cellulitis. Diagnosis in the initial stages of lymphoedema is difficult. Ultrasonography and MRI are the initial investigations. MRI shows the presence of honeycombing oedema of the subcutaneous tissue, and fat lobules may appear taller than wider. In few patients, T2-weighted images show the presence of the dilated superficial lymphatics and deep lymphatics. MR lymphangiography outlines lymphatic vasculature of the limb but has a sensitivity of 68% for lymphoedema.4
Lymphoscintigraphy is the investigation of choice. Tc 99 m sulfur colloid is injected in the first webspace, and sequential images of the whole body are taken to visualise the migration of the tracer via the lymphatics.5 Lymphoscintigraphy can detect the presence of interruption of the lymphatic flow, delayed flow, collateral lymphatics, delayed appearance of the lymph nodes, absence of the lymph nodes, reduced number of the lymph nodes, dilated lymphatics and non-visualisation of the lymphatics. The sensitivity of the lymphoscintigraphy is almost equal to 92%, and specificity is 100%.6 In our case, lymphoscintigraphy showed the absence of lymphatics and lymph nodes in the bilateral lower limb. The disease is in its early stage. The oedema started and gradually progressed over time to the present extent, and in due course of time, it is expected to become generalised.7
In the absence of secondary infections, the initial stages of lymphoedema can be managed conservatively. Conservative treatment consists of elevation of the limb whenever possible, regular massage to soften the subcutaneous tissues and the regular and continuous use of a high-quality, high-pressure, graduated elastic stocking. Low-level laser therapy has been proven efficacious in alleviating pain, stimulating new lymphatics and suppressing fibrosis.8 As the disease advances or there is a cosmetic and functional dysfunction of the limb, surgery would be the treatment of choice. Surgical debulking of the affected extremity using liposuction has been shown to reduce the volume to near normal effectively. These include minimally invasive techniques like liposuction.9 Charles procedure is a tissue reduction surgery followed by full-thickness skin grafting. Lymphatic venous anastomosis, lymphatic bypass and lymph node transfer are the other microsurgeries that help to restore physiology.10 Our patient was managed conservatively with compression stocking and limb elevation.
Patients perspective
I presented to surgery OPD with swelling of the left lower limb, which was gradually progressive. Although there was no pain, I was worried and had a constant fear of embarrassment. After clinical examination and imaging, I was told by the treating surgeon that I have no lymphatic channels or lymph nodes in my lower limbs. I and my family were a little shocked. My treating surgeons counseled me and my family about the condition, its stage, nature of progression, and treatment options available. I continued with conservative therapy to keep edema in check. I was advised regular follow up for monitoring the response to therapy. I am grateful to my treating surgeons for their efforts in diagnosing my condition and helping me overcome and fight my condition.
Learning points
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Lymphoedema praecox is a chronic condition that does not improve and slowly worsens. Prompt diagnosis and early intervention are essential.
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Conservative management offers symptomatic relief in the early stages; however, surgery is the definitive treatment.
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Restoration of physiology through microsurgeries also aid in preventing the disease progression and recurrences.
Ethics statements
Patient consent for publication
Footnotes
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Contributors Preparation of the manuscript: SHPV. Collection of the data: NKG. Interpretation of the data: OHS. Critical review: USK.
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Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
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Competing interests None declared.
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Provenance and peer review Not commissioned; externally peer reviewed.
- © BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.
References
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