Multifocal Lymphangioendotheliomatosis (MLE) एक rare congenital vascular disorder है, जो skin और visceral organs में multifocal vascular lesions पैदा करता है।
- इसे congenital cutaneovisceral angiomatosis with thrombocytopenia के नाम से भी जाना जाता है।
- Disease newborns और infants में पाया जाता है।
- यह condition lymphatic endothelium का abnormal proliferation होती है।
- Severe cases में thrombocytopenia, anemia और internal organ involvement हो सकता है।
Multifocal Lymphangioendotheliomatosis क्या है (What is MLE)
- Rare vascular malformation disorder
- Characterized by multiple vascular or lymphatic lesions on skin and organs
- Lesions may appear as red-blue nodules, plaques, or macules
- Can involve liver, spleen, gastrointestinal tract leading to systemic symptoms
- Often associated with hematological abnormalities
Multifocal Lymphangioendotheliomatosis कारण (Causes of Multifocal Lymphangioendotheliomatosis)
1. Congenital / Genetic Factors
- Present at birth
- Exact genetic cause unknown, considered sporadic in most cases
2. Abnormal Lymphatic Endothelium Proliferation
- Leads to multifocal cutaneous and visceral lesions
3. Associated Factors
- Thrombocytopenia due to platelet trapping in lesions
- Rarely associated with other congenital syndromes
Multifocal Lymphangioendotheliomatosis लक्षण (Symptoms of Multifocal Lymphangioendotheliomatosis)
Cutaneous Manifestations:
- Multiple red-blue nodules or plaques on skin
- Lesions may be raised or flat
- May bleed or ulcerate in some cases
Visceral / Systemic Symptoms:
- Thrombocytopenia (low platelets) – easy bruising, bleeding
- Anemia – fatigue, pallor
- Hepatosplenomegaly – enlarged liver and spleen
- Rarely GI bleeding or respiratory involvement
Symptoms vary depending on extent of organ involvement।
Multifocal Lymphangioendotheliomatosis कैसे पहचाने (Diagnosis of Multifocal Lymphangioendotheliomatosis)
- Physical Examination – skin lesions, bruising, pallor
- Blood Tests – platelet count, hemoglobin, coagulation profile
- Imaging – Ultrasound / MRI / CT to detect visceral lesions
- Biopsy & Histopathology – confirms lymphatic endothelial proliferation
- Genetic Evaluation – to rule out associated syndromes
Early recognition critical due to risk of bleeding and systemic involvement।
Multifocal Lymphangioendotheliomatosis इलाज (Treatment of Multifocal Lymphangioendotheliomatosis)
1. Supportive Therapy
- Management of thrombocytopenia: platelet transfusions if needed
- Anemia treatment: iron supplements or transfusions
2. Pharmacological Therapy
- Corticosteroids or interferon alpha in selected cases to reduce lesion size
- Sirolimus (mTOR inhibitor) – used in severe vascular malformations
3. Surgical / Interventional
- Excision of localized lesions if causing functional or cosmetic issues
- Embolization of visceral lesions in severe bleeding
4. Monitoring
- Regular blood counts and imaging
- Monitor for progression of lesions and organ involvement
Multidisciplinary approach (dermatologist, hematologist, pediatrician, surgeon) essential।
रोकथाम (Prevention)
- No established prevention due to congenital nature
- Early detection in newborns helps in managing complications
- Genetic counseling in families with history of vascular malformations
सावधानियाँ (Precautions)
- Avoid trauma to lesions to prevent bleeding
- Monitor for easy bruising, nosebleeds, or GI bleeding
- Maintain regular follow-up for hematological and visceral health
- Educate caregivers about emergency management
FAQs (अक्सर पूछे जाने वाले प्रश्न)
Q1. क्या यह life-threatening हो सकता है?
Rarely, अगर visceral involvement और severe thrombocytopenia हो तो life-threatening हो सकता है।
Q2. क्या यह hereditary है?
Mostly sporadic, congenital cases हैं; familial inheritance rare है।
Q3. Lesions को हटाया जा सकता है?
Localized skin lesions surgically excised किए जा सकते हैं, लेकिन multifocal lesions में challenging होता है।
Q4. Prognosis कैसा है?
Depends on extent of visceral involvement और effectiveness of supportive care।
निष्कर्ष (Conclusion)
Multifocal Lymphangioendotheliomatosis (MLE) एक rare congenital vascular disorder है।
Early detection, supportive therapy, lesion management और multidisciplinary follow-up से complications और bleeding risk को minimize किया जा सकता है।
अगर किसी newborn या infant में multiple red-blue skin lesions, easy bruising या anemia दिखे, तो तुरंत pediatrician और hematologist से consultation जरूरी है।