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Aplastic Anemia

Aplastic anemia is a form of anemia due to failure in bone marrow production of leukocytes, erythrocytes and platelets, resulting in peripheral blood pancytopenia.


Presentation

Fatigue is the most common presentation as it is the first symptom of low red blood cell count. Fatigue also sets in when there is a lack of hemoglobin in the blood [7].

Other common symptoms of aplastic anemia are chest pain, pale skin, excessively cold extremities, headaches, dyspnea and dizziness shortly after standing.

Arrhythmia is another common presentation of aplastic anemia. In some cases, this may lead to an enlarged heart or heart failure.
Fevers, flu-like symptoms and persistent infections are also common and this is as a result of neutropenia.

Easy and prolonged bleeding also shows a reduction in platelets in the body. Some of the types of bleeding seen in people with lthrombocytopenia include epistaxis, bleeding gums, bloodied stool and red spots in the skin. In women, it may lead to heavy menstrual bleeding.

Skin rashes and nausea are other common symptoms.

Easy Bruising
  • Symptoms include: Bleeding gums Easy bruising Nose bleeds Rash, small pinpoint red marks on the skin (petechiae) Frequent or severe infections (less common) Mild cases of aplastic anemia that do not have symptoms may not require treatment.[medlineplus.gov]
  • Low platelet counts can result in easy bruising or bleeding. Some people with aplastic anemia show no symptoms at all. Aplastic Anemia Treatment Patients with mild aplastic anemia that is not worsening may not need treatment.[froedtert.com]
  • Some symptoms include tiredness, paleness, frequent infections, and easy bruising and bleeding. Aplastic anemia is diagnosed with blood and bone marrow tests. Treatment depends on the cause.[urmc.rochester.edu]
Anemia
  • Aplastic anemia is a form of anemia due to failure in bone marrow production of leukocytes, erythrocytes and platelets, resulting in peripheral blood pancytopenia.[symptoma.com]
  • In aplastic anemia, anemia may cause weakness and easy fatigability while severe thrombocytopenia may cause petechiae, ecchymosis, and bleeding from the gums, into the conjunctivae, or other tissues.[merckmanuals.com]
  • Women with aplastic anemia usually are at increased risk of corpus luteum rupture due to thrombocytopenia and infection. METHODS: Here we report two cases had hemoperitoneum from corpus luteum rupture in patients with aplastic anemia in our center.[ncbi.nlm.nih.gov]
  • However, detailed analyses of relapses in aplastic anemia children are limited.[ncbi.nlm.nih.gov]
  • PURPOSE: To present a case report on the successful management of a low-lying placenta and aplastic anemia. Aplastic anemia is a rare but serious disorder that is often characterized by severe pancytopenia.[ncbi.nlm.nih.gov]
Fatigue
  • Fatigue is the most common presentation as it is the first symptom of low red blood cell count. Fatigue also sets in when there is a lack of hemoglobin in the blood.[symptoma.com]
  • Low red cell count (anemia) can cause: Fatigue Pallor (paleness) Rapid heart rate Shortness of breath with exercise Weakness Lightheadedness upon standing Low white cell count (leukopenia) causes an increased risk for infection.[medlineplus.gov]
  • It stops production of blood cells and causes fatigue, and can lead to infections and excessive bleeding. This condition can happen at any age, and often occurs suddenly.[mazecordblood.com]
  • We ask about general symptoms (anxious mood, depressed mood, fatigue, pain, and stress) regardless of condition. Last updated: January 30, 2019[patientslikeme.com]
Fever
  • Anti-malarial treatment was initiated following which the fever subsided but, despite regular transfusions, the blood counts remained low.[ncbi.nlm.nih.gov]
  • Herein we report a patient with celiac disease who was not strictly following a gluten-free diet and presented with progressive pallor, fever, and weakness of 1 month's duration.[ncbi.nlm.nih.gov]
  • A 23-year-old man presented initially with persistent fever unresponsive to antibiotics and pancytopenia. A bone marrow aspiration and biopsy were used to diagnose the patient with aplastic anemia and HLH.[ncbi.nlm.nih.gov]
  • A 55-year-old woman with AA following ATG developed refractory fever and was diagnosed with EBV-LPD. She was successfully treated with weekly rituximab monotherapy; however, she developed EBV encephalitis.[ncbi.nlm.nih.gov]
  • Although infrequent, extra-hepatic manifestations related to HAV have been described, affecting the heart, bone marrow, blood vessels, and other tissues.A 10-year-old boy from a rural area presented with a 15-day history of malaise, fever, and jaundice[ncbi.nlm.nih.gov]
Weakness
  • Herein we report a patient with celiac disease who was not strictly following a gluten-free diet and presented with progressive pallor, fever, and weakness of 1 month's duration.[ncbi.nlm.nih.gov]
  • Symptoms include fatigue, weakness, dizziness, and shortness of breath. It can cause heart problems such as an irregular heartbeat , an enlarged heart, and heart failure . You may also have frequent infections and bleeding .[medlineplus.gov]
  • A 66-year-old male visited our hospital with anemia and general weakness. He showed pancytopenia, and his bone marrow examination revealed markedly decreased hematopoietic cells.[ncbi.nlm.nih.gov]
  • In aplastic anemia, anemia may cause weakness and easy fatigability while severe thrombocytopenia may cause petechiae, ecchymosis, and bleeding from the gums, into the conjunctivae, or other tissues.[merckmanuals.com]
  • The most common symptom of all anemias is weakness.[everydayhealth.com]
Pain
  • Comfort Cool Tennis Elbow Braces - Elbow Wraps, Sleeves & Bands Finger - Thumb Supports Foot and Ankle Braces - Supports Foot Pain & Injury Hernia Aids and Support Hip Surgery and Injury Knee Braces & Support Orthopedic Back Cushions Orthopedic Pillows[activeforever.com]
  • This is a case report of the successful periodontal and prosthesis treatment in a patient with AA, chronic diffuse gingivitis, excessive tooth caries that interfered with mastication, painful oral lesions, and limited mouth opening.[ncbi.nlm.nih.gov]
  • A 17-year-old girl with aplastic anemia presented to the emergency ward with complaints of severe abdominal pain for the last 24h. On examination, she was noted to be pale with circulatory compromise.[ncbi.nlm.nih.gov]
  • When clinical manifestations appear, these include choluria, jaundice, and abdominal pain.[ncbi.nlm.nih.gov]
  • We ask about general symptoms (anxious mood, depressed mood, fatigue, pain, and stress) regardless of condition. Last updated: January 30, 2019[patientslikeme.com]
Dyspnea
  • Other common symptoms of aplastic anemia are chest pain, pale skin, excessively cold extremities, headaches, dyspnea and dizziness shortly after standing. Arrhythmia is another common presentation of aplastic anemia.[symptoma.com]
  • Aplastic anemia may present with the following signs and symptoms: Fatigue Dyspnea on exertion Easy bruising and bleeding (for example, epistaxis, gum bleeding, heavy menses, subconjunctival hemorrhages, melena, etcetera.)[cancertherapyadvisor.com]
Bleeding Gums
  • Symptoms include: Bleeding gums Easy bruising Nose bleeds Rash, small pinpoint red marks on the skin (petechiae) Frequent or severe infections (less common) Mild cases of aplastic anemia that do not have symptoms may not require treatment.[medlineplus.gov]
  • Other symptoms include: Easy, unexplained bruising Fever Nosebleeds and bleeding gums Pale skin Prolonged bleeding from cuts Rapid heart rate Shortness of breath with exertion Skin rash Weakness Diagnosis Aplastic anemia is diagnosed with blood tests[seattlecca.org]
  • Physical findings : • Anemia with fatigue and pallor; • Bruising; • Petechiae (non-raised hemorrhage in the skin or in a membrane); • Bleeding gums; • Bleeding of internal organs; • Frequent or severe infections; • Nosebleeds; • Rapid heart rate; • Rash[secure.ssa.gov]
  • Some of the types of bleeding seen in people with lthrombocytopenia include epistaxis, bleeding gums, bloodied stool and red spots in the skin. In women, it may lead to heavy menstrual bleeding. Skin rashes and nausea are other common symptoms.[symptoma.com]
Tachycardia
  • Physical findings may help alert us to the presence of aplastic anemia: Pallor, petechiae Tachycardia, hepatomegaly, systolic flow murmur Physical findings can also highlight possible inherited condition: Ex, dystrophic nails, oral leukoplakia, and reticular[pedemmorsels.com]
  • May present with sequelae of neutropenia (infections), anaemia (fatigue, pallor, dyspnoea, tachycardia), or thrombocytopenia (bleeding, bruising). Laboratory findings may include leukopenia, neutropenia, anaemia, and thrombocytopenia.[bestpractice.bmj.com]
Tinnitus
  • Other symptoms may include a waxy pallor to the skin and mucous membranes, bleeding gums, a lack of energy during exercise, and tinnitus (ringing in the ears). Premenopausal women may have an increased menstrual flow and duration.[medbroadcast.com]
Petechiae
  • In aplastic anemia, anemia may cause weakness and easy fatigability while severe thrombocytopenia may cause petechiae, ecchymosis, and bleeding from the gums, into the conjunctivae, or other tissues.[merckmanuals.com]
  • CASE PRESENTATION: We report a case of 6-year-old South Asian girl presenting with bruises, petechiae, and recent history of loose stools.[ncbi.nlm.nih.gov]
  • Symptoms result from anemia, thrombocytopenia (petechiae, bleeding), or leukopenia (infections). Diagnosis requires demonstration of peripheral pancytopenia and a bone marrow biopsy revealing a hypocellular marrow.[merckmanuals.com]
  • Symptoms include: Bleeding gums Easy bruising Nose bleeds Rash, small pinpoint red marks on the skin (petechiae) Frequent or severe infections (less common) Mild cases of aplastic anemia that do not have symptoms may not require treatment.[medlineplus.gov]
Purpura
  • KEYWORDS: Acquired amegakaryocytic thrombocytopenic purpura; Aplastic anemia; Pure megakaryocytic aplasia; TPO agonist [Indexed for MEDLINE] Free full text[ncbi.nlm.nih.gov]
  • FDA approves Promacta to treat pediatric patients with chronic immune thrombocytopenic purpura The U.S.[news-medical.net]
  • This means a persistent hematocrit of 26% or less and reticulocyte (recently produced red blood cell) count of 4% or greater, or purpura (bleeding under the skin) and thrombocytopenia (reduced platelet count) of 40,000 platelets/cu.mm. or less despite[disabilitysecrets.com]
  • Bleeding and bruising due to lack of platelets – purpura (small bruises in the skin), nosebleeds, bleeding gums, vision problems (bleeding in the retina). Severe bleeding is not common but requires urgent treatment.[leukaemiacare.org.uk]
Skin Lesion
  • Abstract A 60-year-old patient with aplastic anemia presented with vesicular varicella-like skin lesions on her face, arms, legs, back, and abdomen. However, diagnosis for herpetic infection was negative.[ncbi.nlm.nih.gov]
Epistaxis
  • Although the GI bleed could be explained by portal hypertension and gastropathy, the epistaxis was likely due to a bleeding diathesis secondary to thrombocytopenia.[jscisociety.com]
  • Some of the types of bleeding seen in people with lthrombocytopenia include epistaxis, bleeding gums, bloodied stool and red spots in the skin. In women, it may lead to heavy menstrual bleeding. Skin rashes and nausea are other common symptoms.[symptoma.com]
  • Aplastic anemia may present with the following signs and symptoms: Fatigue Dyspnea on exertion Easy bruising and bleeding (for example, epistaxis, gum bleeding, heavy menses, subconjunctival hemorrhages, melena, etcetera.)[cancertherapyadvisor.com]
Headache
  • Symptoms of chronic aplastic anemia include weakness and fatigue in the early stages, followed by shortness of breath, headache, fever, and pounding heart.[britannica.com]
  • A brain tumor may cause headaches and seizures as well as many other nervous system problems. Breast cancer occurs when abnormal cells grow out of control in the breast.[northwell.edu]
  • Other common symptoms of aplastic anemia are chest pain, pale skin, excessively cold extremities, headaches, dyspnea and dizziness shortly after standing. Arrhythmia is another common presentation of aplastic anemia.[symptoma.com]
  • Look-up Popularity More Definitions for aplastic anemia Medical Definition of aplastic anemia : severe anemia that results from defective functioning of the bone marrow with an abnormal reduction in blood cells and that is characterized especially by headache[merriam-webster.com]
Difficulty Concentrating
  • Symptoms of systemic mastocytosis include allergic skin reactions, difficulty concentrating and diarrhea. Doctors diagnose systemic mastocytosis by taking a small tissue sample called a biopsy.[ohsu.edu]

Workup

In diagnosing aplastic anemia, the main procedures carried out include complete blood count, reticulocyte count and bone marrow tests [8]. However, other tests can also be used to improve diagnosis. These include [9]:

  • Liver tests and viral studies (EBV, CMV, hepatitis A, hepatitis B, hepatitis C, HIV, parvovirus B19) to confirm the absence of liver diseases and viruses.
  • X-ray, CT scans and ultrasound imaging tests to show any enlarged lymph nodes in the abdomen.
  • Iron, vitamin B12 and folate levels in the blood to rule out any forms of anemia.
  • Flow cytometric analysis of GPI-anchored proteins
  • Coagulation parameters: Quick value, PTT, fibrinogen
  • Hemolysis parameters
  • Kidney parameters
  • Electrophoresis, immunoglobulins
  • Blood glucose
  • C-reactive protein (CRP)
  • Antinuclear antibodies

The sonographic examination and radiograph of the thorax, HLA typing, as well as electrocardiography (ECG) complete the medical workup.

Toxoplasma Gondii
  • Findings of a skin biopsy led to a tentative histologic diagnosis of toxoplasmosis, and infection with Toxoplasma gondii was confirmed by immunohistochemistry and PCR.[ncbi.nlm.nih.gov]

Treatment

In people with mild to moderate cases of aplastic anemia, there may not be need for treatment unless the condition deteriorates. In those with proven severe cases of aplastic anemia, medical treatment is needed to prevent any types of complications.

Severe cases of aplastic anemia are treated in emergency units in the hospital as these cases can quickly become fatal if left untreated for long.

The most common treatment path for severe cases is blood transfusion and stem cell transplant [10].

Prognosis

This condition is a rare disorder but it is usually serious [6]. Its course of development may either be slow or sudden but the disorder always gets worse over a period of time when the etiologic factors are left untreated.

With the right type of care (may involve blood transfusion, stem cell transplants and use of medicines), people with the condition can be treated completely.

Etiology

Damage to the bone marrow is the main cause of aplastic anemia [3]. Impairment to the stem cells makes them unable to grow into healthy blood cells. The cause of the stem cell defacing can either be acquired or inherited.

Acquired cases of aplastic anemia are most common and in many cases they are temporary. Inherited cases of aplastic anemia are relatively uncommon. In majority of aplastic anemia cases, the cause of the condition remains unknown. Some research explains that stem cell damage often occurs because the immune system’s non-deliberate attack on its own cells.

Acquired aplastic anemia can be caused by exposure to toxins (arsenic, benzene, pesticides), exposure to radiation or chemotherapy, use of antibiotics (chloramphenicol), infectious diseases (HIV, cytomegalovirus, Epstein-Barr virus, hepatitis, parvovirus) and autoimmune disorders (rheumatoid arthritis and lupus erythematodes).

Pregnancy has been noted in some cases as the etiologic factor for aplastic anemia but aplastic anemia as a result of pregnancy often resolves after delivery. Again, cancer from other parts of the body that spreads to the bone can bring about aplastic anemia.

Epidemiology

Aplastic anemia is rare so the annual incidence is placed at about 2 cases for every one million [4]. The condition has a regional predilection as it is seen 2 to 3 more times in Asia than in the West.

Acquired aplastic anemia is seen mostly in people within the ages of 15 and 25 years but the condition is also common at old age with the next highest peak seen in people aged 60 and above.

Sex distribution
Age distribution

Pathophysiology

The pathophysiology of this condition is unclear but it is believed to be an immune mediated disease [5]. A variety of cellular and molecular pathways involving both the target and effector cells are involved in the process. The effector cells are the T cells and the target cells are hematopoietic stem and progenitor cells.

Prevention

Most of the time there is no prevention for aplastic anemia but to lower risk of the disease even further, it is advisable to avoid insecticides, herbicides and all other toxic chemicals.

Summary

Aplastic anemia is a disease where the stem cells of the bone marrow are damaged [1]. This makes the body lose its ability to produce erythrocytes and leukocytes. The production of platelets is also affected. The disease is also known as bone marrow failure.

The condition is one of several types of anaemia. An anemia is a condition that develops when the blood has a far reduced number of red blood cells. It is also seen when there is a reduced amount of hemoglobin in the blood. 

The stem cells can get damaged by a variety of factors including diseases or conditions. The causes may be inherited or acquired.

However in majority of cases, the cause of aplastic anemia is unknown [2].

Patient Information

Aplastic anemia is a condition seen when the body is not producing the right amount of new blood cells. Patients are left fatigued and highly vulnerable to many kinds of infections as well as excessive and uncontrollable bleeding.

This condition is often serious and can develop at any stage. The progression is erratic so it may occur suddenly or gradually.

Treatment for the condition includes medications, blood transfusions and stem cell transplant depending on the severity of the condition.

References

Article

  1. Wu Y, Yu J, Zhang L, Luo Q, Xiao JW, Liu XM, et al. [Hematopoiesis support of mesenchymal stem cells in children with aplastic anemia]. Zhongguo Dang Dai Er Ke Za Zhi. Aug 2008;10(4):455-9. 
  2. Scopes J, Daly S, Atkinson R, Ball SE, Gordon-Smith EC, Gibson FM. Aplastic anemia: evidence for dysfunctional bone marrow progenitor cells and the corrective effect of granulocyte colony-stimulating factor in vitro. Blood. Apr 15 1996;87(8):3179-85.
  3. Young NS. Pathophysiologic mechanisms in acquired aplastic anemia. Hematology Am Soc Hematol Educ Program. 2006;72-7.
  4. Liu H, Mihara K, Kimura A, Tanaka K, Kamada N. Induction of apoptosis in CD34+ cells by sera from patients with aplastic anemia. Hiroshima J Med Sci. Jun 1999;48(2):57-63.
  5. Marsh JC. Long-term bone marrow cultures in aplastic anaemia. Eur J Haematol Suppl. 1996;60:75-9. 
  6. Young NS. Acquired aplastic anemia. Ann Intern Med 2002; 136:534.
  7. Wallerstein RO, Condit PK, Kasper CK, et al. Statewide study of chloramphenicol therapy and fatal aplastic anemia. JAMA 1969; 208:2045.
  8. Marsh JC, Ball SE, Cavenagh J, et al. Guidelines for the diagnosis and management of aplastic anaemia. Br J Haematol 2009; 147:43.
  9. Scheinberg P, Young NS. How I treat acquired aplastic anemia. Blood 2012; 120:1185.
  10. Rovó A, Tichelli A, Dufour C, SAA-WP EBMT. Diagnosis of acquired aplastic anemia. Bone Marrow Transplant 2013; 48:162.

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Last updated: 2017-08-09 16:31