Splenomegaly

Published on 02/04/2015 by admin

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119 Splenomegaly

Instruction

Examine this patient’s abdomen.

Salient features

Examination

• Massive spleen. There may be associated anaemia.

• Start low while examining for the spleen and be gentle during palpation. Even if you are certain it is the spleen, you must go through the motions of ruling out a palpable kidney: do a bimanual palpation and check for ballottement; feel for the splenic notch; auscultate for splenic rub.

Proceed as follows:

• Look for enlarged lymph nodes and anaemia.

• Remember that the spleen must be at least two or three times its usual size before it can be felt.

• Remember that the spleen normally does not extend beyond the anterior axillary line and lies along the 9th, 10th and 11th ribs. The spleen percussion sign is a useful diagnostic technique (Ann Intern Med 1967;67:1265).

• Comment on anaemia or facial suffusion (Fig. 119.1).

Fig. 119.1 Polycythaemia vera, showing facial plethora and conjunctival suffusion.

(With permission from Hoffbrand, Pettite JE: 2000.)

Diagnosis

This patient has massive splenomegaly (lesion), probably caused by a myeloproliferative disorder (aetiology) and is short of breath because of severe anaemia (functional status).

Advanced-level questions

In which other conditions is a massive spleen palpable?

• Gaucher’s disease.

In which conditions can a moderately enlarged spleen (two to four finger-breadths or 4–8 cm) be felt?

• Portal hypertension secondary to cirrhosis

• Lymphoproliferative disorders such as Hodgkin’s disease and chronic lymphatic leukaemia.

In which common conditions would the spleen be just palpable?

• Lymphoproliferative disorders

• Portal hypertension secondary to cirrhosis

• Infectious hepatitis

• Glandular fever (infectious mononucleosis)

• Subacute endocarditis

• Sarcoid, rheumatoid arthritis, collagen disease, idiopathic thrombocytopenia, congenital spherocytosis and polycythaemia rubra vera (95% of those with polycythaemia vera have a mutation affecting the JAK2 signalling molecule)

• Slender young women (Ann Intern Med 1967;66:301).

What do you know about the genetics of chronic myelocytic leukaemia?

The fusion of c-abl (normally present on chromosome 9) with bcr sequences on chromosome 22 is pathognomonic of the chronic phase of chronic myelocytic leukaemia (the Philadelphia chromosome). The p53 gene appears to be the culprit in myeloid blast transformation and there are structural alterations of RB1 or N-ras in <10% of those with myeloid blast crisis.

What do you understand about the terms myeloid metaplasia and extramedullary hematopoiesis?

Myeloid metaplasia and extramedullary hematopoiesis are used interchangeably. They describe the process of ectopic haematopoietic activity that may occur in any organ system but predominantly affects the liver and spleen. It may or may not be associated with bone marrow fibrosis (myelofibrosis). ‘Myelofibrosis with myeloid metaplasia’ is usually used to describe idiopathic myelofibrosis or agnogenic myeloid metaplasia (N Engl J Med 2000;342:1255–65). Myelofibrosis is characterized by splemomegaly, teardrop poiklocytosis in peripheral smear, leukoerythroblastic blood picture and giant abnormal platelets, hypercellular marrow with reticulin or collagen fibrosis (Fig. 119.2).

Fig. 119.2 Primary myelofibrosis. Peripheral blood: dacryocytes, or teardrop forms (A), leukoerythroblastic profile with immature granulocytic precursors (B), including blasts (C) and circulating nucleated red blood cells (D). Bone marrow biopsy is frequently hypercellular (E) with atypical megakaryocytic and granulocytic proliferation (F).

(With permission from Hoffman et al. 2008.)

What do you understand by the term chronic myeloid disorders?

Chronic myeloid disorders include:

• chronic myeloid leukaemia: characterized by elevated white blood cell count, marked left-shift to myeloid series, but a low percentage of promyelocytes and blasts, presence of Philadelphia chromosome or bcr/abl

• myelodysplastic syndromes: characterized by cytopenias with a hypercellular bone marrow, morphologic abnormalities in two or more hematopoietic cell lines

• atypical chronic myeloid disorder

• chronic myeloproliferative disease: polycythaemia vera, essential thrombocythaemia, myelofibrosis with myeloid metaplasia:

• essential thrombocythaemia, in turn, includes agnogenic myeloid metaplasia, post-polycythemic myeloid metaplasia and post-thrombocythaemic myeloid metaplasia.

What is the treatment of Gaucher’s disease?

Enzyme replacement therapy with glucocerebroside (alglucerase) is beneficial (N Engl J Med 1991;324:1464–70, N Engl J Med 1992;327:1632–6).

PCE Gaucher (1854–1918), Professor of Dermatology in France.

The 1902 Nobel Prize was awarded to Sir Donald Ross (1857–1932; born in Almora, India), University of Liverpool, for his work on malaria, in which he showed how the parasite enters the organism. This laid the foundation for successful research on this disease and methods of combating it.

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