Adiposis dolorosa

Definicija

Adiposis dolorosa ili Dercumova bolest se karakteriše razvojem višestrukih, bolnih, potkožnih lipoma u vezi sa gojaznošću, astenijom i umorom i nizom mentalnih poremećaja, uključujući nestabilnost, depresiju, konfuziju, demenciju i epilepsiju.

Pretraga

Pun naziv

Adiposis dolorosa

Kratki naziv

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Sinonimi

Adipose tissue rheumatism Neurolipomatosis Adiposalgia Lipomatosis dolorosa Dercum disease

Orpha broj

36397

Kategorija

Podkategorija

Naziv na stranom jeziku

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Prevalenca

Unknown

Nasleđivanje

Autosomal dominantÿorÿNot applicable

Period početka bolesti

-

ICD 10

E88.2

OMIM

103200

UMLS

C0001529

GARD

5750

MEDDRA

10001294
Tekstualni opis
The lipomas may be localised or diffuse and can occur at any location except the face and neck. The most common sites are the knees (referred to as juxta-articular adiposis dolorosa), upper thighs, back and upper arms. Lipomas near the joints cause arthralgia. The pain increases with BMI. Paresthesia and ecchymosis have been noted in the skin overlying the fatty deposits. Sparse pubic and axillary hair have also been reported.
Etiologija
The aetiology remains unknown but several hypotheses have been proposed including an autoimmune mechanism, alterations in fatty acid or carbohydrate metabolism and endocrine anomalies. In one case, onset of adiposis dolorosa was found to be triggered by long-term treatment with high-dose corticosteroids.
Prognoza
bolest_prognoza
Diferencijalna dijagnoza
The differential diagnosis should include fibromyalgia, other multiple lipoma syndromes such as familial symmetric lipomatosis, Proteus syndrome, MERRF syndrome with lipomatous lesions, neurofibromatosis type 1 (NF1) and multiple endocrine neoplasia type 1 (see these terms).
Tretman
Treatment is symptomatic. Pain may be relieved by intravenous administration of lidocaine, local corticosteroid (prednisone) injections and combinations of mexiletine and amitriptyline, or infliximab and methotrexate. Traditional analgesics are generally ineffective. Weight loss does not result in pain relief or resolution of the lipomas. Surgical options include liposuction or excision. Recurrence of the lipomas after surgical removal, either at the same site or at other locations, is common.
Dijagnostičke metode
Diagnosis is mainly clinical (the association of pain and the fatty acid deposits with obesity is a key factor for diagnosis) and is often delayed due to the diverse spectrum of manifestations. Ultrasound and MRI are useful diagnostic tools for identifying the masses as lipomas.
Antenatalna dijagnoza
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Epidemiologija
Prevalence is unknown. The disease usually occurs in postmenopausal women between 45 and 60 years of age but a few cases have been reported in males.
Genetsko savetovanje
The majority of reported cases are sporadic but a few familial cases with autosomal dominant transmission have been described.
Terapija
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Klinička istraživanja
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