Bone marrow transplant may improve granulomas (small masses of inflamed tissue) and inflammation in patients with little or no lung or nervous system complications. Supportive therapies such as physical therapy, respiratory support, and mobility aids may be required. Studies in cells and mice have shown proof-of-concept for enzyme replacement therapy for Farber disease. Aceragen, a biopharmaceutical company, is currently developing an investigational enzyme replacement therapy with a clinical study planned for late 2022. Prognosis
Children with the most severe forms of Farber disease generally die by age 2-3 years. The life expectancy of individuals with moderate or attenuated forms is unknown. The oldest reported individuals living with Farber disease were in their 50s and 60s. Prevalence
To date, there have been approximately 200 reported cases of Farber disease and SMA-PME in the literature. The disorders are ultra-rare and estimated to occur in fewer than one per million. Eponym
It is named for Sidney Farber. References
External links
National Organization for Rare Disorders (NORD): ASAH1-Related Disorders
GeneReviews: ASAH1-Related Disorders
Aceragen Pipeline with Farber
Free Genetic Testing for ASAH1
Congenital dyserythropoietic anemia type IV (CDA IV) has been described with typical morphologic features of CDA II but a negative acidified-serum test. Presentation
CDA type IV is characterized by mild to moderate splenomegaly. Hemoglobin is very low and patients are transfusion dependent. MCV is normal or mildly elevated. Erythropoiesis is normoblastic or mildly to moderately megaloblastic. Nonspecific erythroblast dysplasia is present. Genetics
Congenital dyserythropoietic anemia type IV is an autosomal dominant inherited red blood cell disorder characterized by ineffective erythropoiesis and hemolysis resulting in anemia. Circulating erythroblasts and erythroblasts in the bone marrow show various morphologic abnormalities. Affected individuals with CDAN4 also have increased levels of fetal hemoglobin. Diagnosis
Treatment
Treatment consists of frequent blood transfusions and chelation therapy. Potential cures include bone marrow transplantation and gene therapy. See also
Congenital dyserythropoietic anemia
Thalassemia
Hemoglobinopathy
List of hematologic conditions

References
Further reading
Congenital dyserythropoietic anemia at the US National Institutes of Health Home Genetic Reference]


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