Paula and Bobby
Parents of Lillie
What is Adiposis Dolorosa?
Adiposis Dolorosa is a rare disease. It is also known as Dercum Disease.
The main features include obesity and painful subcutaneous lipomata. Onset is usually in early adulthood, with pain overlying soft tissue swellings. The tumours can be distributed over the whole body, with the exception of the face and head. They might, on palpation, feel like a bag of worms and the overlying skin may be ecchymotic. Pubic and axillary hair are sparse and the condition might start in post-menopausal women after the age of 45. Some patients have decreased sweating and might, later in the course of the illness, lose weight. The nodules are histologically identical to common lipomata.
* This information is courtesy of the L M D.
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What gene changes cause Adiposis Dolorosa?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 103200 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Adiposis Dolorosa?
The typical symptoms of the syndrome are:
Hypothyroidism, Memory impairment, Abnormal hair quantity, Fatigue, Middle age onset, Sleep disturbance, Skin ulcer, Chronic pain, Telangiectasia of the skin, Diarrhea, Developmental regression, Constipation, Dry skin, Autoimmunity, Bruising susceptibility, Anxiety, Arthritis, Arthralgia, Autosomal dominant inheritance, Obesity, Xerostomia, Paresthesia, Painful subcutaneous lipomas, Seizure, Keratoconjunctivitis sicca, Migraine
How does someone get tested for Adiposis Dolorosa?
The initial testing for Adiposis Dolorosa can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
What is FDNA Telehealth?
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