Aphaeresis is an extracorporeal procedure in which the main components of blood (red blood cells, plasma, and plasma proteins) are separated and removed from the body. It is used as therapeutic measure for certain conditions.
It is one of the indications of placement ...
Yttrium-90 ibritumomab tiuxetan, also known by the trade name Zevalin (Acrotech Biopharma LLC, USA), is a theranostic radiopharmaceutical approved for the treatment of patients with relapsed or refractory low grade or follicular non-Hodgkin lymphoma (NHL). More specifically, it is a radioimmunot...
Lederer-Brill disease is an autoimmune haemolytic anaemia with very variable clinical features 1.
It usually occurs in children with a recent history of infection. Symptoms and signs include 1:
massive haemolysis resulting in anaemia, jaundice, and haemoglobinuria
Nezelof syndrome is a hereditary primary immunodeficiency state caused by thymic dysplasia, lack of T cell function and normal levels of immunoglobulins.
Nezelof syndrome is extremely rare.
Common clinical features include 4,5
failure to thrive
Congenital agammaglobulinemia, also known as Bruton disease or X-linked agammaglobulinemia, is a hereditary condition due to a mutation in the Bruton tyrosine kinase (BTK) gene located on the long arm of the X-chromosome. BTK is critical in the maturation of pre-B cells to mature B cells.
Prothrombin 20210 mutation is a prothrombotic haematological condition which predisposes individuals to thromboembolic events such as
deep venous thrombosis
cerebral venous thrombosis
It considered the second most commonly inherited th...
Splenic ultrasound is a non-invasive diagnostic imaging method that uses high-frequency sound waves to visualise and assess the size, shape, structure, and potential abnormalities of the spleen.
trauma: splenic injuries resulting from accidents, sports injuries, or any other form of...
Fat-containing splenic lesions are rare, and the differential diagnosis is limited.
splenic hamartoma 1
splenic myelolipoma 2
splenic liposarcoma 3
Non-mass and pseudo-lesions may also occasionally co...
Anti Sjögren’s syndrome related antigen antibodies are a group of antibodies against autoantigens which include
They are currently thought to be associated a number of autoimmune conditions.
They were originally identified in patients with
Evans syndrome is an autoimmune condition with two or more cytopenias, usually caused by autoimmune haemolytic anaemia (AIHA) and immune thrombocytopenia (ITP), with or without immune neutropenia.
Evans syndrome is considered rare, with defining bicytopenias present in less than 5...
Disseminated histoplasmosis, also known as progressive disseminated histoplasmosis, is a severe form of histoplasmosis infection typically seen in immunosuppressed patients, especially in the setting of HIV infection. It results from haematogenous dissemination of the infection, involving multip...
This article lists examples of normal imaging divided by body region and system.
head and neck
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a severe, treatment-refractory, monogenic, multiorgan, autoinflammatory condition with vasculitic and haematological complications.
VEXAS syndrome is likely to be rare, but also likely to be underdiagnose...
Bone marrow reconversion generates a red bone marrow pattern that is in reverse to the normal red-to-yellow distribution.
Bone marrow reconversion occurs when there is increased haematopoietic demand, which may be 1,2:
high endurance athle...
Focal nodular marrow hyperplasia is a rare, benign condition where there is a localised conversion of red/haematopoietic from yellow/fatty bone marrow. Its main relevance is of having a pseudotumour appearance mimicking skeletal metastases on MRI 1.
Most commonly located in...
Cyanosis (plural: cyanoses) is a physical sign represented by bluish discolouration of the skin. It indicates there is reduced oxygen bound to red blood cells in the bloodstream. Diagnosis of the underlying cause of cyanosis is based on a thorough history and physical examination.
The notch sign refers to an abnormally deep depression at the tumour margin in contrast-enhanced MRI in primary CNS lymphoma 1. It is not an uncommon sign in primary CNS lymphoma and can be seen in both immunocompetent and immunocompromised patients. It suggests an irregular growth pattern as we...
Birbeck granules refer to unusual rod-shaped structures specific to Langerhans cells. Their origin and function remain undetermined. Langerin is a crucial component within Birbeck granules.
History and etymology
Birbeck granules were first described by Michael S Birbeck in 1961 3.
Lymphoplasmacytic lymphoma (LPL) is an uncommon type of B-cell non-Hodgkin lymphoma. In this condition, the affected tissues (usually bone marrow) become infiltrated by small lymphocytes, plasmacytoid lymphocytes, and plasma cells.
Some publications state this condition synonymous with Waldens...
Autoimmune haemolytic anaemia is a group of haemolytic anaemias characterised by an antibody response to red blood cells. It can present as acute or chronic anaemia. It can be idiopathic or can occur with other disorders.
Several types have been described:
warm-antibody type anaemia (WAIHA)
Peripheral T cell lymphoma is an uncommon, heterogeneous group of lymphoma. It can account for around 5-15% of non-Hodgkin lymphoma (NHL).
The word "peripheral" does not mean involvement in the extremities but refers to tumour cells that arise from lymphoid tissue outside of the bo...
Unicentric Castleman disease (UCD) is considered the more common form of Castleman disease and involves one or more enlarged lymph nodes in a single region of the body that demonstrates histopathologic features that have features of Castleman disease. A subset of patients can have systemic sympt...
Night sweats, also known as sleep hyperhidrosis, are a common clinical complaint and may herald malignancy, especially lymphoma, or infections. Patients typically report waking up in the night with sweating so severe that their clothes and bed sheets are soaked through ("drenching sweats") and n...
A blast crisis or lymphoid blast crisis refers to the transition of chronic or accelerated phase chronic myeloid leukaemia to acute leukaemia. It is usually characterised by
≥30% blasts in the bone marrow or peripheral blood
development of extramedullary disease outside of the spleen
Felty syndrome is a rare condition that involves rheumatoid arthritis, decreased white blood cell count and spleen enlargement.
A mnemonic to remember the basic components of Felty syndrome is:
A: arthritis (rh...
A mnemonic to remember the commonest causes of thrombocytopenia is:
P: platelet disorders (DIC, TTP, ITP)
E: enlarged spleen
L: liver disease
T: toxicity (heparin, aspirin, chemotherapy, benzene)
A mnemonic to remember the commonest causes of anion gap metabolic acidosis is:
G: glycols (ethylene glycol and propylene glycol)
R: renal failure
Platelets, also known as thrombocytes, are an essential constituent of the cellular component of blood. They play a key role in normal haemostasis. Normal platelet levels in adult patients are 150-400 x 109/L.
Platelets are tiny (2-4 μm) cells that lack nuclei 1-3. They are mass pro...
Immune thrombocytopenia (ITP), historically known as idiopathic thrombocytopenic purpura, is an autoimmune disorder characterised by a decrease in platelet numbers to <100 x 109/L. In most cases it is a primary condition, i.e. no underlying cause is found.
Historically, immune thro...
Hairy cell leukaemia is a rare and indolent form of small mature B-cell leukaemias.
Its annual incidence is estimated at around 0.3 cases per 100 000, and the disease comprises 2-3% of all leukaemias. There is a recognised male predilection of around 4:1 with a median age of aroun...
Thrombocytosis (plural: thrombocytoses) is a general term and is defined as a rise in platelet count to over two standard deviations above the normal range. Its exact quantitative definition is variable, but generally equates to a platelet count greater than 400-450x109 cells/L.
Lymphoma of the bone may represent lymphoma that has originated within that bone itself i.e. primary, or metastasised there from another organ/tissue, i.e. secondary. Secondary forms of bone lymphoma are much more common than the primary bone form.
primary osseous lymphoma
secondary osseous ly...
Myelodysplastic syndrome / myeloproliferative neoplasm (MDS/MPN) overlap syndromes refer to a group of chronic clonal myeloid malignancies in which there are features of both myelodysplastic syndrome and myeloproliferative neoplasm at the time of presentation.
Entities that can fall into this g...
The YEARS criteria is a diagnostic algorithm that determines the risk of pulmonary embolism (PE) derived from three items in the Wells score that are most predictive of PE1. Unlike the Wells score, it uses a variable D-dimer threshold based off clinical pre-test probability. The YEARS criteria i...
The bright band sign is a sonographic sign found in the context of splenic infarction.
It consists of highly hyperechoic linear-shaped bands within splenic infarct lesions of different ages 1.
Histological examinations of spleens with the sign suggest it might be caused by preserved fibrous tr...
CD34 or haematopoietic progenitor cell antigen CD34 is an intercellular adhesion protein and cell surface glycoprotein and a frequently used marker of haematopoietic progenitor cells and endothelial cells. It is also expressed by many other non-haematopoietic cell types including multipotent mes...
Tumour lysis syndrome (TLS) is an entity representing a constellation of laboratory and clinical derangements inclusive of:
It is considered an oncological emergency and can occur following treatment of malignancies with high...
Primary hypogammaglobulinemia is a congenital/non-acquired form of hypogammaglobulinaemia and can be of heterogeneous aetiology.
The condition is characterised by low levels of serum immunoglobulins and impaired antibody responses.
The majority of cases of primary hypogammaglobulinemia are rep...
Primary cutaneous lymphomas represent a group of extranodal non-Hodgkin lymphomas (T- or B-cell) primarily confined to the skin with no evidence of extracutaneous disease at the time of diagnosis (cf. secondary involvement of the skin).
Mycosis fungoides is the most prevalent type of primary c...
Hepatic manifestations of common variable immunodeficiency are not uncommon and can be primarily related to nodular regenerative hyperplasia.
For a general discussion of the underlying condition, please refer to the article on common variable immunodeficiency (CVID).
Agranulocytosis refers to a situation where the absolute neutrophil count (ANC) falls to less than 100 neutrophils per microlitre of blood. It predisposes to a very high risk of severe infection.
It can be hereditary or acquired.
hereditary: usually due to genetic mutations in the ...
Splenic histoplasmosis can manifest with splenomegaly and splenic hypoattenuation. It is more common in immunosuppressed patients (e.g. HIV/AIDS), particularly in endemic areas (e.g. central USA) 1,2. Healed splenic histoplasmosis is one of the causes of diffuse splenic calcifications 2.
The haematinics are nutrients that are required by the body for erythropoiesis, i.e. the production of red blood cells 1,2.
List of haematinics
Clinically, the most important haematinics are vitamin B12, iron and folic acid because deficiency states of these three substances are much more comm...
Red blood cells (RBCs), also known as erythrocytes (or rarely haematids), are cells that carry oxygen by means of haemoglobin, and form part of the cellular component of blood as it circulates throughout the body. These extremely common cells are typically made in the bone marrow in a process ca...
Lymphopenia (also known as lymphocytopenia, hypolymphaemia and sublymphaemia) is a deficiency of circulating lymphocytes 1. It may be either primary or secondary.
The spelling lymphopaenia is erroneous and should never be used.
Afibrinogenaemia, also called congenital afibrinogenaemia, is a rare autosomal recessive inherited blood disorder due to deficiency of the clotting protein fibrinogen. The disorder is associated with increased risk of spontaneous haemorrhage1.
Afibrinogenaemia has an estimated pre...
A mnemonic to remember the radiological features of haemochromatosis is:
P's for primary and S's for secondary
P: parenchymal (liver, myocardium, thyroid and synovium)
P: poor liver (organ dysfunction and malignancy)
The lymphatic system (also known as the lymphoid system or systema lymphoideum in Terminologia Anatomica) is the collective term given to the lymphatic vessels and lymphoid tissues in the body 1,4.
Occasionally the lymphatic system is considered with the reticuloendothelial system ...
Episodic angioedema with eosinophilia (EAE), also known as Gleich syndrome, is a rare condition presenting as a self-limiting cyclic urticaria, fever, angioedema, weight gain and marked eosinophilia, with 3-4 weekly episodes 1.
Episodic angioedema with eosinophilia is rare, only a...
Eosinophilia is defined as an abnormally high level of eosinophils in the blood, this is usually defined as >500 cells/μL (normal eosinophil level: <450 cells/μL). Hypereosinophilia is defined as >1500 cells/μL and is usually due to haematological malignancy 1,2.
This article includes recommend...
The lymphoid organs represent sites in the body in which lymphocytes are concentrated. They are divided into primary and secondary lymphoid organs 1.
Primary lymphoid organs are responsible for the generation of new lymphocytes:
Secondary (a.k.a. periph...
The lymph nodes (commonly shortened to nodes, and known as nodus lymphoideus in TA 4) collectively form one of the secondary lymphoid organs.
Macroscopically, a normal lymph node is a small ellipsoid structure, approximately 0.1 to 2.5 cm in maximal length 2,3. Nodes often posses...
Plasma cell leukaemia (PCL) is a rare and aggressive form of leukaemia and plasma cell dyscrasia. It can be divided into primary (pPCL) and secondary (sPCL) following previously diagnosed multiple myeloma. It is also considered clinically and genetically distinct from multiple myeloma.
The B symptoms (a.k.a. inflammatory symptoms) are a triad of systemic symptoms associated with more advanced disease and a poorer outcome in lymphoma 1,2:
>10% unintentional decrease in body weight in the 6 months preceding the diagnosis
B symptoms are ...
Anaplastic large cell lymphomas (ALCL) are group of mature T-cell lymphoma first described in 1985 as a large-cell neoplasm with anaplastic morphology immunostained by the Ki-1 antibody, which recognises CD30.
The WHO classification of haematolymphoid tumours recognises three distinct entities:...
Percutaneous splenic biopsy, using either ultrasound or CT guidance, is an accurate and reliable method of acquiring splenic tissue for histopathological assessment and has been proposed as an alternative for splenectomy in selected patients.
Although the procedure has been historically feared ...
Autoimmune lymphoproliferative syndrome (ALPS) is a rare lymphoproliferative condition.
It presents with chronic lymphadenopathy, splenomegaly, and symptomatic multilineage cytopenias in an otherwise healthy child.
It represents a failure of apoptotic mechanis...
Haemoglobin (Hb) is the oxygen-carrying molecule in red blood cells.
Haemoglobin is a tetrameric protein molecule composed of four subunits. Each subunit consists of an iron-containing cyclic haem component linked to a polypeptide chain, the polypeptides are together known as globin....
Haemoglobin SC (HbSC) disease is a haemoglobinopathy, and a common variant of sickle cell disease (SCD). There is coinheritance of one HbS gene and one HbC gene, resulting in a milder phenotype than full-blown sickle cell disease. It most commonly manifests with a proliferative retinopathy. Pain...
Blood is a connective tissue usually found in a liquid phase; it comprises a fluid component called plasma (about 55% of the total volume), in which lies the cellular component, comprising several cell lineages, primarily the white blood cells, red blood cells and platelets. In an average adult ...
Diathesis (plural: diatheses) is a term used to describe a state in which there is an increased chance of something happening. Contemporaneously, the word is used as a synonym for the word predisposition; however the term predates a modern understanding of genetics or pathology 1.
The typical clinical manifestations of multiple myeloma can be recalled using the mnemonic:
R: renal failure
B: bone disease
The CRAB mnemonic can help differentiate multiple myeloma from its precursor diseases - monoclonal gammopathy of undeterm...
Porphyrias are a group of rare metabolic diseases in which haem metabolism is altered.
Porphyria is rare, with some forms being extremely rare. Estimates for the prevalence of the disease vary in the literature and could reflect differing geographic distribution and/or incomplete ...
Diffuse large B-cell lymphoma (DLBCL) is the most common subtype of non-Hodgkin lymphoma.
Diffuse large B-cell lymphoma is sometimes associated with immunodeficiency, including acquired immunodeficiency syndrome.
In the 2016 WHO classifica...
The concentric target sign is a typical sign of cerebral toxoplasmosis. It is seen on T2 weighted MR imaging as a deep parenchymal lesion showing a series of concentric rings with hyperintense and hypointense/isointense signals alternatingly. Strong perifocal oedema is usually visible on T2/FLAI...
Leishmaniasis refers to zoonoses caused by parasites of the genus Leishmania. There are three main forms of leishmaniasis:
visceral (also known as kala-azar or dum-dum fever)
Leishmaniasis is a truly global disease with a higher ...
Dyscrasia (plural: dyscrasias) was used historically in medicine to refer to an imbalance of the four bodily humours 1. It is now used as a synonym for disease, and is only found as part of the terms "blood dyscrasia" or "plasma cell dyscrasia".
Blood dyscrasia refers to any disease of the bloo...
White blood cells or leucocytes are one of the main cell types found in normal human blood. They are actually colourless (but appear white on light microscopy) and are divided into granular and non-granular types.
Types of white blood cell:
Hypovitaminosis K (also known as vitamin K deficiency) is caused by a lack of vitamin K in the body.
The main symptoms and signs are related to clotting dyscrasia as vitamin K is vital as a cofactor for the enzymatic activation of several key components of the clotting p...
Anaplastic lymphoma kinase (ALK) gene rearrangements are known to occur in association with several tumours. The genes code for an enzyme called anaplastic lymphoma kinase (ALK) or ALK tyrosine kinase receptor (also known as CD246) which is thought to play a role in brain development and exerts ...
Hepatosplenomegaly is simply the simultaneous presence of a pathologically-enlarged liver (hepatomegaly) and spleen (splenomegaly).
Many infections can produce a mild concurrent enlargement of the liver and spleen. This list is by no means exhaustive.
Vitamin B6 deficiency (also known as hypovitaminosis B6) is rare, as the B6 vitamers are present in many commonly-consumed foodstuffs. It is most commonly seen in the context of chronic ethanol excess, although many other risk factors are known. In children, deficiency may manifest as seizures. ...
Lactate dehydrogenase (LDH or LD) is a key enzyme in most cells, catalysing the reversible conversion of pyruvate to L-lactate. Its contemporaneous main clinical uses are limited primarily to the investigation of haemolysis, serous collections and as a tumour marker.
Gallbladder cholesterol polyps are the most common subtype of gallbladder polyps, representing more than 50% of all polyps. They are frequently seen in middle-aged women and are benign lesions, with no malignant potential.
For further details, please refer to the parental article on gallbladde...
Pyrexia (or fever) is a clinical sign, indicated by an abnormally elevated core body temperature, which is defined by several medical societies as ≥38.3°C (≥≈101°F). The temperature elevation may be persistent or episodic. If the body temperature is greater than 41.5°C - a rare phenomenon - it i...
Musculoskeletal involvement of leukaemia is not always apparent on imaging, although the disease is per se characterised by the bone marrow infiltration.
Leukaemia is a haematological neoplasm characterised by the overproduction of immature (blasts) or abnormally differentiated cells of the ha...
The adenoid tonsils, or often just simply the adenoids (also known as the nasopharyngeal or pharyngeal tonsils), are paired foci of lymphatic tissue located on the superoposterior wall of the nasopharynx and form part of Waldeyer's ring.
Hereditary spherocytosis (HS) (also known as Minkowski-Chauffard disease 1) is a group of haemolytic anaemias due to a genetic abnormality of the erythrocyte cell membrane resulting in spherocytes. The clinical spectrum is broad, from a subclinical state to severe transfusion-dependant anaemia.
Leukaemic cell lysis pneumopathy, also referred to as acute lysis pneumopathy, refers to an acute respiratory failure that can occur in patients with leukaemia after the initiation of chemotherapy, particularly in those with hyperleukocytosis. On imaging, it manifests with features of acute resp...
Therapy-related myeloid leukaemias, also referred to as therapy-related myeloid neoplasms, occur as a late complication after cytotoxic therapies (e.g. chemotherapy, immunosuppressive therapy, and radiation therapy) performed to treat other conditions. They represent haematological malignancies ...
Acute myeloid leukaemia (AML), also referred to as acute myelogenous leukaemia, is a haematological malignancy characterised by the abnormal clonal proliferation of immature myeloid precursors (myeloblasts) or poorly differentiated cells of the haematopoietic system. It primary infiltrates the b...
Leukaemia is a haematological neoplasm characterised by the overproduction of immature (blasts) or abnormally differentiated cells of the haematopoietic system in the bone marrow that often, but not always, extends into the peripheral blood.
This article aims to provide an overview of leukaemi...
Neuroacanthocytosis syndromes (NAS), previously known collectively as Levine-Critchley syndrome, are characterised by basal ganglia degeneration, acanthocytosis, and normal serum lipoprotein.
There are four core NAS:
McLeod syndrome (MLS)
Huntington disease-like ...
Extranodal extension refers to the growth of a nodal cancer metastasis beyond the confines of the capsule of a lymph node into adjacent tissues. Less preferred synonyms include extranodal spread, extracapsular extension, or extracapsular spread.
This finding holds prognostic implications. For e...
Chronic myeloid leukaemia (CML), also known as chronic myelogenous leukaemia, is a myeloproliferative neoplasm characterised by the overproduction of granulocytes with fairly normal differentiation.
The annual incidence is about 1 per 100,000 1,3. The typical age at presentation i...
Lupus anticoagulant refers to an immunoglobulin that binds to phospholipids and proteins associated with cell membranes. The name lupus "anticoagulant" is in fact a misnomer as it is a prothrombotic agent. Patients with lupus anticoagulant have a primary hypercoagulable state and a greater prope...
Primary hypercoagulable states are those situations where patients have laboratory (genetic) abnormalities resulting in clinical conditions that are associated with an increased risk of thrombosis (prothrombotic states) or have recurrent thrombosis without recognisable predisposing factors (thro...
Paroxysmal nocturnal haemoglobinuria (PNH), also known as Marchiafava-Micheli syndrome or Strübing-Marchiafava anaemia, is an acquired haematopoietic stem cell disorder whereby some of the red blood cells produced are defective and are susceptible to premature destruction by the immune system, l...
Disseminated intravascular coagulation (DIC), also known as consumption coagulopathy or defibrination syndrome, refers to a systemic phenomenon of overactivation of coagulation and fibrinolysis resulting in widespread clots forming inside blood vessels.
Patients present w...
Magnetic resonance lymphangiography (MRL) is an imaging technique used to visualise and map the lymphatic vessels. The technique is used for treatment planning in supermicrosurgical procedures, including lymphaticovenous anastomosis, lymphaticolymphatic bypass and vascularised lymph node transfe...
Copper deficiency (also known as hypocupraemia) is unusual due to the ubiquity of copper in the normal diet.
Copper deficiency is thought to be rare, but exact numbers are difficult to ascertain.
The typical presentation of copper deficiency mimics the more...
Sideroblastic anaemia (also known as sideroachrestic anaemia) is a rare cause of anaemia characterised by the presence of ring sideroblasts rather than normal red blood cells in the bloodstream. Sideroblastic anaemia is either congenital or acquired.
Symptoms and signs re...
Anaemia is the presence of reduced haemoglobin in the blood. Formally, the World Health Organizatiοn (WHO) defines anaemia by the haemoglobin concentration in the blood according to age and sex 1:
adult men: <130 g/L
adult women: <120 g/L
Values for pregnant women and children are diff...