What is Pearson Marrow-Pancreas Syndrome?

A rare and fatal disorder Pearson Marrow – Pancreas Syndrome was first discovered in the year 1979 by a pediatric hematologist and oncologist Howard Pearson. It is known as a severe disorder that triggers in infancy and affects formation of blood cells, functioning of the pancreas and other organs. Let us understand the causes, symptoms and treatment of Pearson Marrow – Pancreas syndrome.

Infants suffering from Pearson Marrow – Pancreas Syndrome show characteristics like refractory anemia, marked vacuolization of bone marrow cells, pancreatic insufficiency and marked lactic acidosis. It is defined as a multi system syndrome classified as a mitochondrial disease that basically causes a change in the DNA.

Pearson Marrow – Pancreas Syndrome affects the generation of blood cells which is produced in the bone marrow. There are three types of blood cells. Red blood cells are responsible for the transportation of oxygen in the entire body. White blood cells are responsible for the maintenance of immunity in the body. Blood platelets are responsible for healing blood clots during injuries. The dysfunction in generation of the blood cells causes various problems in the body. Low count of red blood cells causes anemia leading to weakness and fatigue. Low generation of white blood cells lowers immunity causing frequent infections. Low count of the platelets causes frequent blood loss. Thus Pearson Marrow – Pancreas Syndrome overall causes an imbalance in the health of an individual causing them to fall ill for almost all of their life.

What is Pearson Marrow-Pancreas Syndrome?

Causes of Pearson Marrow-Pancreas Syndrome

The cause of Pearson Marrow – Pancreas Syndrome is change in the genetic makeup, which leads to a series of problems. It largely affects the functioning of pancreas leading to increased fat in the liver, which causes liver problems in Pearson Marrow – Pancreas Syndrome. The pancreas is responsible for the generation of various enzymes that help in digestion and dissolution of fats and proteins in the body. Dysfunction of the pancreas can result in decreased release of insulin, which is the cause of diabetes. Insulin maintains the blood sugar level, failing which the affected individual can develop diabetes which then, needs to be controlled with medicines and insulin injections. In addition to these, the disease leads to scarring of the pancreas causing fibrosis.

The main cause of Pearson Marrow – Pancreas Syndrome is the occurrence of unsystematic mutations during the developmental stage of the fetus. It affects the genes; the defects caused by the disease can damage and injure tissues in the body at cellular level. It deletes the electron transport chain to these tissues causing cellular oxidative metabolism causing loss of protein absorption in the body. The deletion of the mitochondrial DNA can cause variety of disorders in the affected body. The severity of the Pearson Marrow – Pancreas Syndrome depends on the affected mutant mitochondrial DNA molecules in the cells.

Symptoms of Pearson Marrow-Pancreas Syndrome

The major signs and symptoms of the Pearson Marrow – Pancreas Syndrome is the low absorption of nutrients like vitamins and proteins in the body. The deficiency of nutrients shows signs of bloating of the intestine and abdomen, uneasiness in the stomach with mild to severe abdominal pains and cramps, nausea, vomiting, constipation, persistent diarrhea, loss of appetite and noticeable reduction in body weight. Scarring of the pancreas leads to pancreatic fibrosis, due to which other symptoms of Pearson Marrow – Pancreas Syndrome like loss of weight, pale skin, jaundice, nausea, vomiting, dark coloured urine, tiredness, weakness and loss of appetite are noted.

The severity of the symptoms in the Pearson Marrow – Pancreas Syndrome vary from person to person and are based on the degree of mutation or changes in the genes.

Low count of red blood cells, commonly known as anaemia, shows symptoms such as tiredness, fatigue, decrease in energy causing weakness, dizziness, frequent light headedness, pale skin, shortness of breath and body ache.

The symptoms of Pearson Marrow – Pancreas Syndrome when there is low count of white blood cells include frequent mild or sever infections and frequent ailment due to low immunity.

Low blood platelets count shows symptoms like frequent bleeding through wounds, gums, nose, internal bleeding, decreased appetite and body ache.

Treatment of Pearson Marrow-Pancreas Syndrome

The severity decides the type and procedure of the treatment of Pearson Marrow – Pancreas Syndrome. Treatment is largely based on the age and health condition of the patient as well as the availability of the bone marrow donors. Treatment of Pearson Marrow – Pancreas Syndrome is planned after a complete examination and biopsy of the bone marrow and liver tissues are done. Additionally imaging procedures such as CT scan, MRI scans, MR cholangiography of the pancreas, endoscopy and angiography of the lower abdomen and the pancreas are done. These tests are important as they help to determine the severity of the Pearson Marrow – Pancreas Syndrome.

The initial treatment of Pearson Marrow – Pancreas Syndrome includes blood transfusion to increase the count of the blood cells and platelet transfusion to prevent excessive bleeding. Certain antibiotics, fluids, electrolytes and multivitamin medicines are recommended to improve the condition of the patient. Further, the long term treatment plan is devised, specific to the condition of the patient. The long term treatment options of Pearson Marrow – Pancreas Syndrome include

  • Bone Marrow Transplant: This treatment of Pearson Marrow – Pancreas Syndrome includes chemotherapy or radiation sessions to eliminate the abnormal bone marrow cells. A matching bone marrow replacement is rendered to the patient. For this, a bone marrow donor is checked and matched, and the cells from the donor's body are intravenously injected into the patient's body to start generation of new bone marrow cells.
  • Stem Cell Transplant: In this treatment, the stem cells extracted from the bloodstream of the donor are checked and matched with that of the patient. Once a match is achieved, the stem cells are intravenously injected in the bloodstream of the patient. Many physicians suggest bone marrow transplant over stem cell transplant due to the better results of bone marrow transplant.
  • Hematopoietic Growth Factors: This treatment is used when other treatment options of Pearson Marrow – Pancreas Syndrome do not show desired result. Cell growth stimulants like granulocyte-macrophage colony stimulant, erythropoietin and granulocyte-colony stimulants are injected in the bloodstream of the patient to increase the production of the blood cells.

Conclusion

The Pearson Marrow – Pancreas Syndrome can be a life threatening disease, as it can cause major internal bleeding, damage to organs, metabolic disorders, liver failure, heart failure, diabetes and severe anemia. It affects the pancreas and liver causing functional problem which further may lead to multiple organ failure or even be fatal. The disease can affect children as well adults.

The deficiencies in Pearson Marrow – Pancreas Syndrome can be improved to a certain extent with the help of medicines or transfusion. However treatments options like transplant of the bone marrow, liver tissues and blood cell stimulants can offer long term cure. While there is no permanent cure of the disease, properly planned treatment of Pearson Marrow – Pancreas Syndrome can improve the condition and help to lead a healthy life.

Written, Edited or Reviewed By:

, MD, FFARCSI

Last Modified On: April 6, 2017

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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