Living with Farber lipogranulomatosis
A rare inherited condition in which fats build up in cells, causing a hoarse voice, fatty lumps under the skin, and painful, swollen joints.
Understanding Farber lipogranulomatosis
Three classic signs are a hoarse voice or weak cry, small lumps of fat under the skin (lipogranulomas), and swollen painful joints. Signs usually begin in infancy. It can affect many body systems, causing developmental delay, behavior problems, or seizures. It is now thought of as a spectrum of overlapping signs.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hoarse voice or weak cry
- Fatty lumps under the skin
- Swollen, painful joints
- Developmental delay
- Floppy muscle tone in infancy
- Slow growth and weight gain
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in ASAH1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Tay-Sachs and Allied Diseases Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the ASAH1 gene cause it. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: ac deficiency; acid ceramidase deficiency; acylsphingosine deacylase deficiency; ceramidase deficiency; disseminated lipogranulomatosis; farber disease
Patient organizations
- National Tay-Sachs and Allied Diseases AssociationFarber lipogranulomatosis · United States
- Epilepsy FoundationEpilepsy · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Farber lipogranulomatosis.
Explore research for Farber lipogranulomatosis
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