Pearson Syndrome Treatment & Management

Updated: Jun 01, 2023
  • Author: Zora R Rogers, MD; Chief Editor: Hassan M Yaish, MD  more...
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Medical Care

No specific therapy is available for individuals with Pearson syndrome or other mitochondrial cytopathies. Awareness of possible complications and early intervention may prevent death and minimize morbidity.

Red blood cell transfusions are often needed to manage the macrocytic anemia, and patients may be dependent on transfusions. Erythropoietin has been tried to decrease the frequency of transfusions.

Pancreatic enzyme replacement is needed for patients with malabsorption due to exocrine pancreatic insufficiency. Supplementation with fat-soluble vitamins (ADEK) may also be needed.

Although without controlled evidence of benefit, many clinicians offer supplementation with coenzyme Q and additional supplementation with carnitine and riboflavin.

In neutropenic patients, fever higher than 101.5ºF (38.6ºC) should be evaluated promptly. Parenteral antibiotics should be administered after blood for culture is obtained. Splenic atrophy may also increase the risk of bacteremia due to encapsulated organism. Granulocyte colony-stimulating factor (G-CSF) has been used in some patients to manage severe neutropenia. [32]

Intermittent metabolic crises are managed with supportive care, including hydration, correction of electrolyte abnormalities or acidosis, and treatment of underlying causes (eg, infection). Evidence of concomitant hepatic failure should be sought. Chronic bicarbonate supplementation and dichloroacetic acid have been used to treat persistent metabolic acidosis.

Patients may have hypothyroidism, hypoparathyroidism, diabetes mellitus, or growth hormone deficiency. These conditions should be screened for and treated, if present.

Stem cell transplantation has been reported in Pearson syndrome. [33] However, Pearson syndrome is a multisystem disorder; thus, transplantation can only correct the hematologic manifestations of the disorder and cannot correct the dysfunction of other systems. Transplantation may be associated with unique or greater than expected toxicities as well. [33]


Surgical Care

No specific surgical management is needed for patients with Pearson syndrome.

Some patients may benefit from an indwelling venous catheter to facilitate frequent transfusions or infusions.



Patient should be seen in consultation by and managed in collaboration with an expert in metabolism and genetics in addition to a hematologist.

If endocrine, renal, or cardiac complications are present, appropriate specialists should be involved in comanagement.



No dietary restrictions or modifications are required.



No specific restrictions to activity are required.

Patients with neuromuscular manifestations may require appropriate support.