Overview

Fabry disease is an X-linked lysosomal disorder

that leads to excessive deposition of neutral
glycosphingolipids in the vascular endothelium of
several organs and in epithelial and smooth muscle
cells. Progressive endothelial accumulation of
glycosphingolipids accounts for the associated
clinical abnormalities of skin, eye, kidney, heart,
brain, and peripheral nervous system.
When young patients present with signs and
symptoms of a stroke, along with a history of skin
lesions, renal insufficiency or failure, and heart
attacks, Fabry disease is a consideration.
Fabry disease is uncommon, although research
suggests that Fabry mutations may be more
frequent than previously thought in cryptogenic
stroke patients. However, the patients studied
invariably had other signs of Fabry disease,
including proteinuria and acroparesthesias. [1]
The diagnosis of Fabry disease has considerable
implications regarding treatment, management,
and counseling. Specifically, physicians may be
alert to the involvement of other organs besides
those of the central nervous system (CNS), thus
making early intervention possible. With early
identification, counseling and prenatal diagnosis
may be offered to family members. [2, 3]
Treatment and diagnostic considerations
Patients with Fabry disease seek care from a
variety of specialists, usually because of the
involvement of a number of organ systems.
The diagnosis and treatment of Fabry disease can
be challenging. The signs and symptoms of Fabry
disease may be nonspecific, and if manifestations
in different organs are considered in isolation, the
unifying diagnosis may be missed. [4, 5]
The National Society of Genetic Counselors
recommends testing for any patient with a family
history of Fabry disease or corneal verticillata
("whorls") on slit lamp exam. In the absence of
these factors, it is recommended to test patients
who have any of the following two features: [6]
1. Decreased sweating (anhidrosis or
hypohidrosis)
2. Reddish-purple skin rash in the bathing trunk
area (angiokeratomas)
3. Personal and/or family history of kidney
failure
4. Personal or family history of "burning" or
"hot" pain in the hands and feet, particularly
during fevers (acroparesthesias)
 5. Personal or family history of exercise, heat, or
cold intolerance
6. Patients with sporadic or non-autosomal
dominant (no male-to-male) transmission of
unexplained cardiac hypertrophy
If the family history suggests a diagnosis of Fabry
disease, genetic testing and counseling should be
offered to all family members, regardless of their
sex.
The presence of Fabry symptoms in boys and girls
of any age is a strong indication for treatment
initiation. Recommendations from the Fabry
Pediatric Expert Panel include the following: [7]
 Treatment should be initiated before
irreversible end-organ damage has occurred.
 Asymptomatic children with Fabry mutations
should be followed closely.
 The management of Fabry disease requires a
multidisciplinary care approach.
Aggressive efforts to diagnose the etiology of
stroke are necessary to plan secondary prevention
strategies. In this context, unusual presentations,
with multiple organ involvement or lack of
traditional vascular risk factors, should lead to the
consideration of Fabry disease. Traditional
secondary stroke prevention strategies are still
necessary.
Treatment strategies involve combined efforts
from multiple specialties. The diagnosis and care
of these patients usually is best handled at tertiary
care centers.
Acute strokes may be managed adequately in
community hospitals in the initial phases. Further
care can be accomplished by means of
consultation with tertiary care centers.
Research to replenish deficient enzymes by means
of gene transfer via adenovirus is in its early
stages.
 genogram is a family tree that comes alive.
Families are complex systems that interact with
other communities and kin groups, of which they
are a part of, and they cannot be fully understood
without the wider context in which they live.
Genograms contain a wealth of information on the
families represented because they allow you to
illustrate not only how members of a family tree
relate to each other, but how they are a product of
their time, by their behaviors, friendships, and
many more.
A genogram will not only show you the names of
people who belong to your family lineage, but how
these people interact with each other.
Family trees are only a mere representation of
generic parent and child links. However, there are
complex interplays within a family unit which can
only be understood through the use of a genogram.
A genogram will not only show you the names of
people who belong to your family lineage, but how
these people interact with each other and with
others who are significantly involved in their lives
(clan or tribe members, slaves, tutors, godparents,
live-in nannies). For example, a genogram will
illustrate how your Vietnamese grand-mother's
arranged marriage was determined before she was
born through alliances, and how your African-
American cousins ended up in Nova Scotia in the
early 1800's. Even if you want to keep your work
simple by including only your immediate family,
you can quickly illustrate in your genogram that
your uncle George and his wife Anita have two
children, but also that their youngest child was
sent to boarding school, that Uncle George
suffered from depression, was an alcoholic, and a
philosopher, while Aunt Anita has not spoken to
her brother for years, has breast cancer and has a
history of being unfaithful. Family history has
never been so interesting!