EMQs in Clinical Medicine.pdf - Peshawar Medical College

Causes of splenomegaly – answers 171
emphysema and its complications are the major cause of mortality in
these individuals.
The most common pattern of emphysema that is seen in hospitals is a
centrilobular/centriacinar emphysema which is smoking related. The
damage is predominantly in the respiratory bronchioles with relative
preservation of the alveoli.
However, 1 -antitrypsin deficiency is associated with a much rarer
panacinar emphysema that involves the destruction of whole alveoli
and predominantly affects the lung bases. As smoking promotes the
inactivation of 1 -antitrypsin, it results in the patient developing
emphysema earlier.
58 Causes of splenomegaly
Answers: L E H A J
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A 75-year-old woman with long-standing rheumatoid arthritis is seen
to have splenomegaly on abdominal examination. Her full blood count
shows anaemia and a low white cell count.
Felty’s syndrome is a condition characterized by splenomegaly and
neutropenia in a patient with rheumatoid arthritis (RA). It is strongly
associated with HLA-DR4 genotype and patients are usually very
strongly rheumatoid factor positive. Management involves treating the
underlying RA. If patients do not improve with medical therapy and
have recurrent infections, splenectomy may be indicated.
A 35-year-old man presents with an insidious onset of
hepatosplenomegaly with marked pigmentation on the forehead and
hands. He is anaemic and has a history of pathological fractures.
Gaucher’s disease is a lysosomal storage disease that results from
glucocerebrosidase deficiency and a consequent accumulation of
glucosylceramide in the lysosomes of the reticuloendothelial system.
There is a notably high incidence in Ashkenazi Jews.
The history in this question is suggestive of type I disease (types II and III
are associated with significant neurological involvement), which usually
involves a presentation with anaemia, hepatosplenomegaly and
symptoms relating to bone involvement. Patients are also found to
have increased pigmentation, particularly on the forehead and hands.
Bone involvement gives rise to pathological fractures. Radiographs may
reveal some classic bone-modelling deformities, e.g. ‘Erlenmeyer’s flask’
in which the end of a long bone is expanded and the shaft has a
straightened/convex margin. Osteonecrosis and painful lytic lesions are
also common.
Bone marrow biopsy is used for diagnosis to identify the pathognomonic
Gaucher cells. Treatment involves enzyme replacement therapy.