Week 2 - Vascular Disorders Flashcards by Alessandra May Limbo

Abnormal bleeding involving the loss of red blood cells from the microcirculation.

Purpura

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Characterized by obvious hemorrhages into the skin and mucous membranes that appear as extensive areas of red or dark-purple discoloration.

Purpura

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If small, purplish hemorrhagic spots on the skin or mucous membranes are evident, it is called.

Petechiae

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If the patches of bleeding into the tissues are larger, this is referred to as

Ecchymosis

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Hereditary Hemorrhagic Telangiectasia

Rendu-Osler-Weber Syndrome

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Autosomal Dominant

Hereditary Hemorrhagic Telangiectasia
Rendu-Osler-Weber Syndrome

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Characterized by thin-walled blood vessels.

Hereditary Hemorrhagic Telangiectasia

Rendu-Osler-Weber Syndrome

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○ Discontinuous endothelium
○ Inadequate smooth muscle
○ Inadequate or missing elastin in the stroma

Hereditary Hemorrhagic Telangiectasia
Rendu-Osler-Weber Syndrome

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Manifests by puberty and progresses throughout life.

Rendu-Osler-Weber Syndrome

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Universal finding of Rendu-Osler-Weber Syndrome

Epistaxis

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Mutations in the ENG gene.

Type 1 Hereditary Hemorrhagic Telangiectasia

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Mutations in the ACVRL1 gene.

Hereditary Hemorrhagic Telangiectasia type 2

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Unknown mutation of HHT

Hereditary Hemorrhagic Telangiectasia type 3

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caused by mutations in the gene SMAD4.

Juvenile Polyposis/HHT

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Dilated superficial blood vessels that create small,
focal red lesions.

Telangiectasia

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The lesions blanch when pressure is applied.

Telangiectasia

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● Most obvious on the face, lips, tongue, conjunctiva, nasal mucosa, fingers, toes, trunk, and under the tongue.
● Fragile and prone to rupture.

Telangiectasia

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Diagnosis of HHT

Based on the consensus clinical criteria of Curacao.

Presence of 3 out of 4 criteria:
○ Spontaneous recurrent epistaxis
○ Cutaneous telangiectasia
○ Visceral involvement
○ Familial heredity

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Other Disorders with Telangiectasia

Cherry-redhemangioma
Ataxia-Telangiectasia (Louis-Bar Syndrome)
Chronic Actinic Telangiectasia

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Hemangioma-Thrombocytopenia Syndrome

Kasabach-Merritt Syndrome

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Hereditary basis has not been established, but condition is present at birth

Hemangioma-Thrombocytopenia Syndrome
Kasabach-Merritt Syndrome

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Giant hemangioma may occur

congenitally soon after birth or affect the skin, liver, and spleen.

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Either visceral or subcutaneous, but rarely both.

Hemangioma-Thrombocytopenia Syndrome
Kasabach-Merritt Syndrome

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External hemangiomas may become engorged with blood and resemble hematomas.

Hemangioma-Thrombocytopenia Syndrome
Kasabach-Merritt Syndrome

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Giant Cavernous Hemangioma (Vascular Tumor) Complications

Microangiopathic hemolytic anemia

Associated disease of Hemangioma Thrombocytopenia Syndrome

Giant Cavernous Hemangioma (Vascular Tumor) Thrombocytopenia Bleeding diathesis

Thrombocytopenia complications

Sequestration of platelets in hemangiomas

Bleeding Diathesis complications

Acute or chronic disseminated intravascular coagulopathy

Ehlers- Danlos Syndrome Mode of inheritance:

Autosomal dominant Autosomal recessive X-linked trait

Can be ascribed to defects in collagen production.

Ehler danlos syndrome

Ehler Danlos Syndrome Manifestations

● Hyperextensible skin ● Hypermobile joints ● Joints laxity ● Fragile tissues ● Bleeding tendency ● Subcutaneous hematoma formation

EDS IV mode of inheritance

Autosomal dominant

Mode of inheritance of EDS Greatest risk for major bleeding.

EDS Type4

Mode of inheritance of EDS Structural defect in proa1(III) chain of collagen encoded by COL3A1 gene

EDS TYPE 4

Pseudoxanthoma Elasticum (PXE) other name

Groenblag-Strandberg Syndrome

Autosomal recessive

Pseudoxanthoma Elasticum (PXE) Groenblag-Strandberg Syndrome

Inherited connective tissue disorder that results in calcification and mineralization of elastic fibers

Pseudoxanthoma Elasticum (PXE) Groenblag-Strandberg Syndrome

Pseudoxanthoma Elasticum (PXE) Groenblag-Strandberg Syndrome mutations

Mutations in the ABC-C6 gene.

Group of nonthrombocytopenic purpuras characterized by apparently allergic manifestations, including skin rash and edema

Allergic Purpura Anaphylactoid Purpura

Associated with certain foods and drugs, cold, insect bites, and vaccinations.

Allergic Purpura Anaphylactoid Purpura

Acute IgA-mediated disorder

Henoch-Schonlein Purpura

Generalized vasculitis involving the skin, joints, kidneys, GI tract, and, less commonly, the lungs.

Henoch-Schonlein Purpura

Generalized vasculitis involving the skin, joints,kidneys, GI tract, and, less commonly, the lungs.

Henoch-Schonlein Purpura

Frequently confused with ITP.

Henoch-Schönlein Purpura

Primarily a disease of children. (3-7 years of age)

Henoch-Schonlein Purpura

Twice as many boys are girls are affected.

Henoch-Schonlein Purpura

Clinical presentation: ○ Malaise, headache, fever, and rash.

Henoch-Schonlein Purpura

The skin lesions are urticarial and gradually become pinkish, then red, and finally hemorrhagic. ○ “Palpable purpura” ○ Most commonly found on the feet, elbows, knees, buttocks, and chest.

Henoch-Schonlein Purpura

Henoch-Schonlein Purpura ● Laboratory Findings:

○ Normal PLT count ○ Elevated WBC count ○ Elevated ESR ○ Normal Coagulation studies ○ Proteinuria and Hematuria ○ Anemia (only if hemorrhagic manifestation is severe)

Severe hemorrhagic manifestations as a result of a combination of hyperviscosity and platelet dysfunction.

Dysproteinemia

Inhibits platelet aggregation, secretion, and procoagulant activity.

Dysproteinemia

Coating of platelet membrane with paraprotein inhibits adhesion and activation receptor.

Dysproteinemia

Also inhibits assembly of clotting factors on the platelet surface.

Dysproteinemia

A disorder of women that presents with recurrent purpura on the lower extremities and resultant hemosiderin staining of the skin.

Waldenstrom Macroglobulinemia

● Is caused by production of cryoprecipitable serum proteins or protein complexes.

Cryoglobulinemia

Exposure to cold may cause purpura on the skin of the extremities or face

Cryoglobulinemia

The purpura may cause blister or ulcerate.

Cryoglobulinemia

Autoimmune mechanisms

IgA Myeloma IgG Myeloma

● Interact with platelet receptors. ● Interfere with platelet aggregation. ● Increases plasma viscosity.

IgA Myeloma IgG Myeloma

refers to a misfolded, insoluble protein that accumulates in tissues and organs, forming deposits known

Amyloid protein

Resistant to normal protein degradation process.

Amyloidosis

Deposited extracellularly and may damage tissue.

Amyloidosis

Purpura, hemorrhage, and thrombosis maybe part of the clinical presentation.

Amyloidosis

Due to lack of collagen support for small blood vessels and loss of subcutaneous fats and elastic fibers

Solar purpura

More common in elderly men than women.

Solar purpura

Dark blotches are flattened and do not blanch with pressure. (Age Spots)

Solar purpura

The lesions are limited mostly to the extensor surfaces of the forearms and backs of the hands.

Solar purpura

Caused by a deficiency of vitamin C.

Scurvy

Causes defect in the synthesis of collagen in the walls of small blood vessels

Scurvy

May present with swelling, pain, or discoloration.

Scurvy

Gingival bleeding and hemarthrosis may also be present.

Scurvy

Perifollicular hemorrhages with hyperkeratosis of the hair follicles and "corkscrew" hairs are characteristic.

Scurvy