×

Please Remove Adblock
Adverts are the main source of Revenue for DoveMed. Please remove adblock to help us create the best medical content found on the Internet.

Farber's Disease

Last updated Sept. 11, 2018

Approved by: Maulik P. Purohit MD, MPH

Farber's Disease is an infrequently occurring, inherited metabolic defect, classified as a lipid storage disorder (or lysosomal storage disorder). Lipids are a type of naturally-occurring fats, waxes, and fat-soluble vitamins.


What are the other Names for this Condition? (Also known as/Synonyms)

  • AC Enzyme Deficiency
  • Disseminated Lipogranulomatosis
  • N-Laurylsphingosine Deacylase Deficiency

What is Farber's Disease? (Definition/Background Information)

  • Farber's Disease is an infrequently occurring, inherited metabolic defect, classified as a lipid storage disorder (or lysosomal storage disorder). Lipids are a type of naturally-occurring fats, waxes, and fat-soluble vitamins
  • The primary signs and symptoms of this disease are painful and deformed joints that worsen (over time), the presence of sub-surface skin nodules, voice impairment or hoarseness
  • Farber’s Disease causes high fatality in very young children. Currently, the disease is treated symptomatically and there is no particular cure for this condition

Who gets Farber's Disease? (Age and Sex Distribution)

  • Farber’s Disease is an extremely rare, congenitally inherited disorder with no gender preference
  • No racial or ethnic preference is observed
  • The disease is autosomal recessive - both parents have to be carriers of the anomalous gene to transmit the condition to their offspring

What are the Risk Factors for Farber's Disease? (Predisposing Factors)

Farber’s Disease runs in the families and hence, children born in families with a medical history of the condition are at risk; those having consanguineous partners or spouses have the greatest risk.

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Farber's Disease? (Etiology)

  • Many enzymes exist within the lysosome (a cell structure component), which are required to break down the body’s complex compounds. If there is a lack of any particular enzyme (or if the enzyme is functionally ineffective) due to a metabolic malfunction, then certain lipids progressively accumulate within cells causing tissue damage, at various locations of the body
  • In Farber’s Disease, the missing lysosomal enzyme is acid ceramidase, and the lipid that collects excessively within the cell is ceramidase. Hence, the condition is also known as Acid Ceramidase (AC) Deficiency. This abnormal accumulation leads to cell inflammation and injury
  • AC Deficiency occurs by inheriting a defective autosomal recessive gene (known as ASAH), present on chromosome 8. This problem gene causes a deficient production of the very vital lysosomal enzyme - acid ceramidase

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Farber's Disease?

Signs and symptoms of Farber’s Disease begin to show up immediately on birth of the child, and they may progressively worsen. These signs and symptoms include:

  • Inflamed and painful joints of the wrists, fingers, toes, elbows, ankles, and knees; joint deformity
  • Deposition of lipids (in nodular form) around the joints, beneath the skin
  • Progressively impaired speech, hoarse crying sound (which is observed initially)
  • Feeding, swallowing difficulties
  • Respiratory problems, pneumonia
  • Enlarged lymph nodes (lymphadenopathy), enlarged liver (hepatomegaly) and enlarged spleen (splenomegaly)
  • Weak muscles with reduced functionality, epileptic seizures, and vision problems - all caused by malfunctioning nervous system
  • Opacity of the eye (gray color), red-colored retina center
  • Sometimes, delayed mental growth is observed

How is Farber's Disease Diagnosed?

Normally, a case of Farber’s Disease is easily recognized from its distinct clinical presentations and on studying the family history. The 3 key features that are basically used to confirm the disease are:

  • Sub-surface skin nodules (subcutaneous nodules)
  • Joint deformities
  • Hoarseness of voice

Nevertheless, differential diagnostic tests may be required to rule out other lysosomal storage deficiencies. Some of the exams and tests conducted include:

  • Skin biopsy - the specimen is examined under a microscope by a pathologist to arrive at a definitive diagnosis
  • Genetic analysis to detect abnormal gene
  • Prenatal diagnosis (during pregnancy), using amniocentesis
  • Blood tests, such as complete blood count

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Farber's Disease?

Some of the complications of Farber’s Syndrome could cause fatalities and these might include:

  • Acute breathing difficulties, resulting in respiratory failure
  • Swollen liver (congenital hepatomegaly) and swollen spleen (congenital splenomegaly) at birth
  • Neurological defects; impaired muscular and mental development

How is Farber's Disease Treated?

The treatment measures for Farber’s Disease are basically meant to address, the most critical of medical issues. Currently, there is no cure for this condition.

Since Farber’s Disease manifests immediately after birth, rapid and intense methods are required to effectively control some of its harmful and often fatal effects. The treatment measures include:

  • The use of corticosteroids to relieve pain
  • Blocked airways due to lipid depositions, which may be cleared using a tube that is surgically inserted into the nose
  • Infants and children may require bone marrow transplants, if they do not suffer from severe lung and nervous system complications
  • In older children, surgical procedures are used to remove swollen tissue masses
  • Supportive care and therapy is provided for those with physical and mental disabilities
  • Other signs and symptoms are managed symptomatically

How can Farber's Disease be Prevented?

  • Currently, there are no specific methods or guidelines to prevent Farber’s Disease genetic condition
  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

What is the Prognosis of Farber's Disease? (Outcomes/Resolutions)

  • The prognosis of Farber’s Disease is poor in children, who are less than 2 years old. Most babies die in the womb, or within a few months after birth, mainly due to lung or liver complications
  • The survival rate gets better into childhood and teenage. However, Farber’s Disease is a progressively deteriorating condition and the course of the disease dictates its outcome
  • Supportive care and therapy with lifelong medications may be required to manage the condition

Additional and Relevant Useful Information for Farber's Disease:

  • There are voluntary organizations and support groups that provide help, encouragement and understanding to the children and their families affected by Farber’s Disease
  • Medical researchers are currently studying newer drugs, and clinical trials are underway, to aid in finding suitable treatment measures for the condition

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


Helpful Peer-Reviewed Medical Articles:


Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: April 11, 2014
Last updated: Sept. 11, 2018