Heme Clinical Manifestations Flashcards
general thrombocytopenia
SUPERFICIAL bleeding. Purpura (skin and MM). Petechia (Mostly on the LE). Ecchymoses. Do not blanch under pressure.
immune thrombocytoenic purpura
often asymptomatic.
mucocutaneous bleeding.
Not associated with splenomegaly.
heparin induced thrombocytopenia
Bleeding.
Venous thrombosis, gangrene, organ infarction, and skin necrosis.
disseminated intravascular coagulation (DIC)
bleeding- oozing from venipuncture sites, catheters, drains.
extensive bruising.
thrombosis-gangrene or multi organ failure.`
hemophilia a and b
deep bleeding in JOINTS or MUSCLE BEDS.
Chronic disability due to swelling, deformity, severe pain, and limited rom due to repeated joint hemorrhages.
GI bleeding and brain bleeding.
factor v leiden mutation
pain, swelling and tenderness, mc in LE
protein c or s deficiency
increased incidence of DVT/PE
warfarin induced skin necrosis
Hemolytic anemia
jaundice
pigmented gallstones
sickle cell trait
asymptomatic and not anemic unless exposed to severe hypoxia, extreme physical stress, dehydration or high altitude.
episodic hematuria or isosthenuria due to kidney papillary necrosis.
splenic infarction at high altitude and sudden death with prolonged exercise or physical training.
Sickle Cell Disease
Dactylitis is common initial presentation (inflammation of fingers & toes -> sausage fingers)
Infections -> functional asplenia (from repeated splenic infarctions) leads to increased risk of encapsulated organisms)
Splenic sequestration crisis -> vasoocclusion in the spleen & RBC pooling in the spleen
Painful vasoocclusive “crisis” -> triggers by hypoxia, cold weather, infection, etc. Abrupt onset of pain (chest, back, abdominal, bone). Renal or hepatic dysfunction. Priapism common.
Bony vasoocclusion -> can lead to avascular necrosis of bones
Stroke -> 25% of patients have a stroke by age 45
Thalasemmias
- Ineffective erythropoiesis- anemia, bone pain & fracture, hepatomegaly, splenomegaly
- Hemolysis- anemia, gallstones
- Iron deposition in visceral organs- endocrine dysfunction, liver cirrhosis, arrhythmia & heart failure
alpha thalassemia- aka hemoglobin h disease
At birth- jaundice & anemia
Excess beta chains form insoluble beta chain tetramers (Heinz bodies).
Heinz bodies in RBCs leads to their destruction by the spleen.
beta thalassemia major (Cooley’s Anemia)
Symptoms begin after 6 months of age.
Decreased production of beta globin chains.
Decreased beta chains leads to an increase of alpha chain production but the alpha chains aren’t able to form tetramers (because they need two beta chains).
This leads to ineffective erythropoiesis and shortened RBC life span.
Anemia can be so severe that it leads to irritability, dyspnea and mental delays.
Patients typically have osteoporosis by age 10.
G6PD deficiency
asymptomatic until times of oxidative stress.
Episodic hemolytic anemia.
Neonatal jaundice.
Hereditary spherocytosis (HS)
Recurrent episodes of hemolysis (anemia, jaundice & splenomegaly) are the hallmark.
Increased pigmented gallstones
autoimmune hemolytic anemia
Anemia, hemolysis, splenomegaly.
Cold-induced vascular phenomena in CAD: acrocyanosis (numbness or mottling of the fingers, toes, nose, ears) that resolves with warming of body parts. Reynaud phenomenon, livedo reticularis (mottling).
thrombotic thrombocytopenia purpura (TTP)
Thrombocytopenia = mucosal bleeding
Microangiopathic hemolytic anemia = splenomegaly, anemia, jaundice
Neruologic symptoms = headache, visual changes, confusion, seizures
Kidney failure or uremia (not common)
Fever (rare)
Hemolytic uremic syndrome (HUS)
Prodromal diarrhea 5-10 days prior (abdominal pain, bloody diarrhea) Renal involvement (oliguria & hematuria) Physical exam = pallor, jaundice, hepatosplenomegaly
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia (hemoglobinuria) - dark, cola colored urine during the night or early in the morning with partial clearing during the day. Pancytopenia = often occurs after bone marrow injury. Unexplained thrombosis in atypical veins = despite pancytopenia, thrombosis in hepatic veins, cerebral veins, abdominal veins.
iron deficiency anemia
fatigue, weakness, dyspnea.
CNS: Poor concentration, apathy, irritability, poor school performance, cognitive disturbances.
Pagophagia: Craving for ice.
Pica: craving for non food substances (clay, starch).
lead poisoning
Neuro symptoms: ataxia, fatigue, learning disabilities, difficulty concentrating, hearing loss.
GI: “colic” with intermittent abdominal pain, vomiting, loss of appetite and constipation.
Renal: glycosuria, proteinuria.
General anemia symptoms: fatigue, weakness, dyspnea.
anemia of chronic disease
The initial severity is related to the underlying disorder, but, although persistent, it usually does not persist.
Many patients are asymptomatic and the anemia is often found coincidentally.
aplastic anemia
Pancytopenia: easy bruising, bleeding, frequent infections, fatigue.
Thrombocytopenia: mucosal bleeding.
Leukopenia: recurrent or frequent infections, fever
b12 deficiency
anemia sxs.
Neuro symptoms: symmetric paresthesia most common initial symptom (especially in the legs); lateral and posterior spinal cord demyelination & degeneration, ataxia, vibratory, sensory and proprioception deficits, decreased deep tendon reflexes, Babinski POSITIVE, seizures, psychosis.
Epithelial Symptoms = glossitis, diarrhea, malabsorption
folate deficiency
Anemia symptoms similar to B12 symptoms, but NO neurological symptoms
hereditary hemochromatosis
Asymptomatic in early stages - symptoms usually begin after 40
Liver = cirrhosis
Endocrine = diabetes from pancreatic beta cell damage
Heart = restrictive or dilated cardiomyopathy, arrhythmias
Reproductive = hypogonadism, erectile dysfunction
Skin = metallic or bronze skin (from iron deposition)
polycythemia vera (primary erythrocytosis)
Increased RBC mass due to hyperviscosity or thrombosis
Hyperviscosity = pruritis, especially after a hot bath or shower (due to histamine release from basophils), headache, dizziness, tinnitus, blurred vision, fatigue
Thrombosis = erythromelalgia (episodic burning or throbbing of hands & feet with edema, cyanosis or pallor), TIA
myelodysplastic syndrome
Often present as asymptomatic pancytopenia on routine CBC
Pancytopenia = easy bruising, bleeding, frequent infections and fatigue
acute myeloid leukemia (aml)
Pancytopenia -> anemia (fatigue is the most common presenting symptom)
Dyspnea (why? _______________________)
Weakness
Thrombocytopenia (what is a symptom of this? ___________)
Neutropenia (increased infections and fever)
leukostasis
WBC count > 100,000 & symptoms of tissue hypoxia
chronic myelogenous leukemia
Fatigue Night sweats (oh! Remember those ROS!) Weight loss (oh! Remember those ROS!) Fever Pruritis after hot baths & showers (What other disease has this symptom? \_\_\_\_\_\_\_\_\_\_\_\_\_\_) Splenomegaly is MC finding on PE.
Chronic phase = 70% asymptomatic; usually incidental finding on CBC
Accelerated/Blast phase = neutrophil differentiation becomes progressively impaired and counts are more difficult to control with chemo. This causes the symptoms of weight loss, night sweats, fatigue, and thrombocytopenia (what symptom? ___________)
Blast crisis = presents as acute leukemia with lymph node, skin and soft tissue involvement
acute lymphocytic leukemia (all)
Symptoms of pancytopenia: fever, infections, bleeding from thrombocytopenia (petechiae, purpura) & anemia sxs.
MC site for mets is CNS or testes. CNS symptoms include headache, visual changes, vomiting
chronic lymphocytic leukemia (cll)
pancytopenia–> easy bruising, bleeding, frequent infections and fatigue
multiple myeloma
Bone pain = most common symptom; vertebral most common, ribs.
Due to osteolytic lesions, also have pathogenic osteopenic fractures, spinal cord compression, radiculopathy.
Recurrent infections (leukopenia & ineffective Ig production); hyperviscosity (esp. with IgM)
Elevated calcium
Anemia
Kidney injury
hodgkin lymphoma
Asymptomatic, painless lymphadenopathy = most common presentation (70%)
Usually painless but ETOH ingestion may induce lymph node pain within minutes
Neck LN are the most common (cervical and supraclavicular), axilla; rubbery, fixed, may fluctuate in size
Mediastinal LN or mass is the second most common presentation- often an incidental finding on chest radiograph. Can cause chest pain, cough or dyspnea. Large mediastinal adenopathy is adverse prognostic factor
Fatigue, pruritis, intra-abdominal disease, hepatomegaly, splenomegaly
”B symptoms” = fever, night sweats, weight loss (>10% of body weight over 6 months). Pel-Ebstein fever = cyclical fever that recurs at variable intervals of several days or weeks and lasts 1-2 weeks. Symptoms due to cytokine release by Reed-Sternberg cells. B symptoms indicate advanced disease.
non hodgkin lymphoma
Local = painless lymphadenopathy; hepatosplenomegaly
Extranodal involvement = GI tract is most common, CNS
Systemic B symptoms = fever, night sweats, weight loss
