Question: What is (are) Adiposis dolorosa ?
Answer: Adiposis dolorosa is a rare condition characterized by the growth of multiple, painful, lipomas (benign, fatty tumors). The lipomas may occur anywhere on the body and can cause severe pain. Other symptoms may include weakness, fatigability, and mental disturbances. It usually occurs in obese, post-menopausal women, but it can also occur in men. Adiposa dolorosa is chronic and tends to be progressive. The exact cause is unknown. Most cases are sporadic (not inherited) but a few familial cases with autosomal dominant inheritance have been reported. Treatment may include weight reduction; surgical removal or liposuction of lipomas; and pain management.
Source: GARD

Question: What are the symptoms of Adiposis dolorosa ?
Answer: What are the signs and symptoms of Adiposis dolorosa? Adiposis dolorosa is primarily characterized by the development of muliple, painful lipomas (benign, fatty tumors). It is often associated with obesity; physical weakness and lack of energy; and various other symptoms including depression, confusion, dementia and/or epilepsy (seizures). The lipomas may occur anywhere in the body except the face and neck. The most common sites are the knees, upper thighs, back and upper arms. They may cause joint pain (arthralgia) when they are near the joints. Pain associated with the lipomas can be debilitating; it usually worsens with movement or an increase in body weight. Sparse pubic hair and underarm hair have been reported in some affected people. The condition can also be associated with early congestive heart failure, severe hypothyroidism, joint pain, flushing episodes, tremors, cyanosis, high blood pressure, headaches, and nosebleeds. The Human Phenotype Ontology provides the following list of signs and symptoms for Adiposis dolorosa. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arthralgia 90% Obesity 90% Abnormal hair quantity 50% Arthritis 7.5% Autoimmunity 7.5% Bruising susceptibility 7.5% Constipation 7.5% Developmental regression 7.5% Diarrhea 7.5% Dry skin 7.5% Hypothyroidism 7.5% Keratoconjunctivitis sicca 7.5% Memory impairment 7.5% Migraine 7.5% Paresthesia 7.5% Seizures 7.5% Skin ulcer 7.5% Sleep disturbance 7.5% Telangiectasia of the skin 7.5% Xerostomia 7.5% Anxiety - Autosomal dominant inheritance - Chronic pain - Fatigue - Middle age onset - Painful subcutaneous lipomas - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD

Question: What causes Adiposis dolorosa ?
Answer: What causes adiposis dolorosa? The exact cause of adiposis dolorosa remains unknown. While possible causes have been suggested, none have been confirmed. These include long-term treatment with high-dose corticosteroids; endocrine system abnormalities; and changes in fatty acid or carbohydrate metabolism. Researchers have also suggested that it could be an autoimmune disorder. Because the condition has rarely occurred in more than one person within a family, it may have a genetic component. However, no specific gene known to be associated with the condition has been identified. It is unknown why adiposis dolorosa usually occurs in people who are overweight or obese, or why the signs and symptoms do not appear until mid-adulthood.
Source: GARD

Question: Is Adiposis dolorosa inherited ?
Answer: Is adiposis dolorosa inherited? Most cases of adiposis dolorosa are sporadic (not inherited). This means that it usually occurs in people with no family history of the condition. Adiposis dolorosa has rarely been reported to occur in more than one family member. In some of these cases, it appears to have been inherited in an autosomal dominant manner. In these cases, when an affected person has children, each child has a 50% (1 in 2) risk to inherit the gene causing the condition. However, no associated genes have been identified.
Source: GARD

Question: How to diagnose Adiposis dolorosa ?
Answer: Is genetic testing available for adiposis dolorosa? Clinical genetic testing for adiposis dolorosa is currently not available. This type of testing is typically only available when a genetic cause for a condition has been established, and the specific gene(s) causing the condition have been identified. Most cases of adiposis dolorosa are sporadic (not inherited) and no genes known to be associated with the condition have been identified. We are also not aware of laboratories currently offering research genetic testing for this condition.
Source: GARD

Question: What are the treatments for Adiposis dolorosa ?
Answer: How might adiposis dolorosa be treated? Management of adiposis dolorosa is difficult and no currently available treatments have led to long-lasting, complete pain reduction. Weight reduction, surgical removal of particularly burdensome lesions, and/or liposuction may be helpful for some people. There is currently no drug known to change the course of the disease. Available treatments mainly focus on alleviating symptoms and may include: prednisone or intravenous lidocaine for pain traditional pain medicines such nonsteroidal anti-inflammatory drugs (which are often inefficient), or acetaminophen combined with an opioid analgesic a cortisone/anesthetic injection for localized pain diuretics for swelling of the fingers Other treatments that have led to some pain reduction in some affected people include methotrexate and infliximab; interferon -2b; calcium-channel modulators; and rapid cycling hypobaric pressure. Adjunctive therapies may include acupuncture, cognitive behavioral therapy, hypnosis, and biofeedback.
Source: GARD