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# Farber disease (Farber lipogranulomatosis)

In Farber disease a fat called ceramide builds up around the joints, in the larynx and under the skin, starting in infancy.

Updated 2026-11-01

## Structures involved

Tap one to see what it is and open it in 3D.

- [Finger joint capsules](https://durgical.com/en/anatomy/finger-joint-capsules/)
- [Vocal folds](https://durgical.com/en/anatomy/vocal-fold/)
- [Wrist capsule](https://durgical.com/en/anatomy/wrist-joint-capsule/)
- [Elbow capsule](https://durgical.com/en/anatomy/elbow-joint-capsule/)
- [Arytenoid cartilages](https://durgical.com/en/anatomy/arytenoid-cartilage/)
- [Liver](https://durgical.com/en/anatomy/liver/)
- [Spleen](https://durgical.com/en/anatomy/spleen/)

## In biochemistry

- [Lysosomal ganglioside breakdown: Step 6 · Acid ceramidase (ASAH1)](https://durgical.com/en/biochemistry/pathways/lysosomal-ganglioside-breakdown/#paso-6)
- [Sphingosine](https://durgical.com/en/biochemistry/molecules/sphingosine/)

## What it is

An autosomal recessive lysosomal storage disease caused by acid ceramidase deficiency (ASAH1 gene), with ceramide build-up in joints, larynx, skin and many organs.

## Who gets it

Very rare: a little over 150 cases have been reported worldwide. We found no published frequency for Colombia or Latin America.

## Causes

- Biallelic variants of the ASAH1 gene (autosomal recessive)
- Acid ceramidase activity usually falls below one tenth of normal

## Risk factors

- Both parents are carriers
- Consanguinity
- An affected sibling

## Pathophysiology

Acid ceramidase is the last lysosomal step of sphingolipid breakdown: it splits ceramide into sphingosine and a fatty acid. Without it, ceramide accumulates in macrophages and other cells of synovium, cartilage, larynx, skin, [liver](https://durgical.com/en/anatomy/liver/), [spleen](https://durgical.com/en/anatomy/spleen/), lungs and, in severe forms, the nervous system. Lipid-laden macrophages form inflamed nodules (lipogranulomas), which explain the swollen joints, the hoarse cry and the lumps under the skin.

## Classification

- A spectrum rather than separate types: severe neonatal forms with large liver and spleen and early death
- Classic infantile form with the triad and often neurological involvement
- Milder forms with mainly joint and skin signs and longer survival
- ASAH1 variants also cause a different condition: spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME)

## Symptoms and signs

- Hoarse voice or weak cry
- Firm lumps under the skin, near joints and pressure points
- Swollen, painful joints that become stiff
- Breathing and feeding difficulties
- Enlarged liver and spleen
- Developmental delay or seizures in severe forms

## Red flags

- Breathing difficulty or noisy breathing from laryngeal nodules
- Rapid loss of skills
- Poor weight gain

## Diagnosis

**Clinical**
An infant with the triad of hoarse cry, subcutaneous nodules and painful joint swelling; it is often first mistaken for juvenile idiopathic arthritis.

**Tests**
Low acid ceramidase activity in white blood cells or [skin](https://durgical.com/en/anatomy/skin/) fibroblasts; raised ceramide in blood or tissue; ASAH1 gene testing; biopsy of a nodule showing foamy, lipid-laden macrophages.

**Imaging**
Joint ultrasound or MRI with synovial thickening and masses around the joints; [chest](https://durgical.com/en/anatomy/region/chest/) imaging for lung infiltrates; brain MRI in neurological forms.

## Treatment

**Procedure**
Haematopoietic stem cell transplant in selected children without severe [nervous system](https://durgical.com/en/anatomy/system/nervous-system/) involvement improves joint and skin disease.

**Medical**
Control of pain and inflammation; enzyme replacement and gene therapy are under research.

**Surgical**
Removal of nodules that block the airway or limit function.

**Rehabilitation**
Physiotherapy to keep joints moving.

**Conservative**
Genetic counselling, nutritional support and palliative care when needed.

## Complications

- Joint contractures
- Airway obstruction
- Aspiration pneumonia
- Respiratory failure
- Osteoporosis

## Prognosis

Children with the severe and classic forms usually do not survive past childhood; milder forms can reach adulthood.

## Prevention

- Genetic counselling for families with an affected child
- Carrier testing and prenatal diagnosis when the family variants are known

## Test yourself

Think of the answer, then tap the question to see it.

## Which enzyme is deficient in Farber disease?

Acid ceramidase (ASAH1 gene), which splits ceramide into sphingosine and a fatty acid.

## What is the classic triad of Farber disease?

Hoarse voice or weak cry, nodules under the skin and swollen, painful joints.

## Which childhood disease is Farber disease often mistaken for?

Juvenile idiopathic arthritis, because of the swollen, painful joints.

## What other condition can ASAH1 variants cause?

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME).

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## Related conditions

- [GM1 gangliosidosis](https://durgical.com/en/conditions/gm1-gangliosidosis/)
- [Niemann–Pick disease](https://durgical.com/en/conditions/niemann-pick-disease/)
- [Krabbe disease (globoid cell leukodystrophy)](https://durgical.com/en/conditions/krabbe-disease/)
- [Gaucher disease](https://durgical.com/en/conditions/gaucher-disease/)
- [Osteoporosis](https://durgical.com/en/conditions/osteoporosis/)
- [Hydrocephalus](https://durgical.com/en/conditions/hydrocephalus/)

Educational information, not medical advice. For any symptom, see a health professional.

Sources: [Farber lipogranulomatosis: MedlinePlus Genetics](https://medlineplus.gov/genetics/condition/farber-lipogranulomatosis/) (MedlinePlus, US National Library of Medicine, 2026); [ASAH1 gene: MedlinePlus Genetics](https://medlineplus.gov/genetics/gene/asah1/) (MedlinePlus, US National Library of Medicine, 2026); Textbook of Biochemistry for Medical Students, 6th ed. (Jaypee Brothers Medical Publishers (Vasudevan DM, Sreekumari S, Vaidyanathan K), 2011).

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Source: https://durgical.com/en/conditions/farber-disease/
License: CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). Cite as: DurgiPedia (durgical.com), https://durgical.com/en/conditions/farber-disease/