Adiposis dolorosa

What it is, symptoms and effects

From: MedlinePlus Genetics, National Library of Medicine

Adiposis dolorosa is a condition that is characterized by painful fatty (adipose) tissue just underneath the skin (subcutaneous). The pain is often associated with multiple noncancerous (benign) tumors called lipomas. Adiposis dolorosa occurs most often in women between the ages of 35 and 50 who are overweight or have obesity.

Adiposis dolorosa affects the adipose tissue. Adipose tissue is found in many parts of the body. It stores fat for energy and provides support for the body’s structures. In some individuals, lipomas develop within the adipose tissue. These lipomas can occur anywhere on the body, but they are most often found on the torso, buttocks, or the upper arms and legs. The lipomas in people with adiposis dolorosa usually feel like firm bumps (nodules) underneath the skin and tend to be painful. The pain can be severe, particularly if the lipomas are pressing on a nearby nerve. In some people, the pain is disabling.

People with adiposis dolorosa may experience additional signs and symptoms. However, these features do not occur in all people with adiposis dolorosa, and it is unclear whether they are directly related to the condition. Researchers are working to learn more about the signs and symptoms of this condition.

Causes and biological mechanisms

From: MedlinePlus Genetics, National Library of Medicine

The cause of adiposis dolorosa is unknown. Although a few families with multiple affected family members have been reported, no genetic cause has been identified.

Several possible causes of adiposis dolorosa have been suggested, but none have been confirmed. These include infections, swelling (inflammation), traumatic events, or changes in the deposition and breakdown of fat (adipose tissue metabolism). Changes or abnormalities in the nervous system, immune system, or the hormone-producing endocrine system have also been proposed as possible causes of adiposis dolorosa.

Inheritance and family implications

From: MedlinePlus Genetics, National Library of Medicine

Most cases of adiposis dolorosa are sporadic, which means that they occur in people with no family history of the disorder.

A small number of familial cases of adiposis dolorosa have been reported. When the condition runs in families, it appears to have an autosomal dominant pattern of inheritance.

How common is it?

From: MedlinePlus Genetics, National Library of Medicine

Adiposis dolorosa is believed to be rare, although the exact prevalence is unknown. This condition is more common in women than in men.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Anxiety · Very frequent (99-80%)

Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.

Arthralgia · Very frequent (99-80%)

Joint pain.

Depression · Very frequent (99-80%)

Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.

Fatigue · Very frequent (99-80%)

A subjective feeling of tiredness characterized by a lack of energy and motivation.

Obesity · Very frequent (99-80%)

Accumulation of substantial excess body fat.

Subcutaneous nodule · Very frequent (99-80%)

Slightly elevated lesions on or in the skin with a diameter of over 5 mm.

Abdominal distention · Frequent (79-30%)

Distention of the abdomen.

Abdominal pain · Frequent (79-30%)

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.

Abnormal circulating lipid concentration · Frequent (79-30%)

Any deviation from the normal concentration of lipid in the blood circulation.

Asthenia · Frequent (79-30%)

A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body.

Chronic pain · Frequent (79-30%)

Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months.

Elevated circulating C-reactive protein concentration · Frequent (79-30%)

The concentration of C-reactive protein in the blood circulation is above the upper limit of normal.

Elevated erythrocyte sedimentation rate · Frequent (79-30%)

An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.

Increased total hemolytic complement activity · Frequent (79-30%)

An abnormally elevated total hemolytic complement activity in the circulation.

Other findings in the same source

From: Orphanet

Additional reported features include Overweight (Frequent (79-30%)); Painful subcutaneous lipomas (Frequent (79-30%)); Sparse axillary hair (Frequent (79-30%)); Sparse pubic hair (Frequent (79-30%)); Subcutaneous lipoma (Frequent (79-30%)); Arthritis (Occasional (29-5%)); Autoimmunity (Occasional (29-5%)); Bruising susceptibility (Occasional (29-5%)); Constipation (Occasional (29-5%)); Developmental regression (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

Which doctor should you see?

The suggested department for discussing Adiposis dolorosa is Dermatology, with a dermatologist as the relevant type of clinician. Dermatologist; paediatric services for children as appropriate.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Which features of the skin, hair or nails distinguish the possibilities?
• Would photographs over time help document the changes?
• What should be expected from treatment, and how will irritation or other adverse effects be managed?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Adiposis dolorosa. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.