Reversibility of the Neurologic Alterations in Familial Amyloidotic
Polyneuropathy Type I After Liver Transplantation (22 Cases)
V. Munı´tiz, P. Ramı´rez, M. Munar, F. Andreu, R. Robles, F. S-Bueno, J.A. Ferna ´ ndez, J.A. Pons,
M. Miras, P. De Mingo, J. Lujan, J.M. Rodrı´guez, M. Bru, F. Acosta, and P. Parrilla
F
AMILIAL amyloidotic polyneuropathy type I (FAP I)
is a hereditary systemic amyloidosis that usually in-
volves the peripheral nervous system,
1
where a variant
prealbumin molecule (TTR variant) is deposited as amy-
loid. Patients usually die 7 to 10 years after onset of
symptoms
1
and because variant prealbumin is basically
produced in the liver, Holmgren et al
2
and Parrilla et al
3
performed a liver transplant (LT) in patients with FAP I
and reported the cessation of the synthesis of this variant
protein postoperatively.
PATIENTS AND METHODS
In this paper we report our experience regarding the survival and
the evolution of the sensory motor syndrome of the extremities and
autonomic dysfunction in 22 patients (17 male and 5 female) with
a mean age of 40 years (range, 22 to 58) treated by LT. The FAP
I diagnosis was based in all cases on compatible neurologic
symptoms and electromyographic signs, family history, and location
of amyloid in abdominal fat and sural nerve; the specific diagnosis
of FAP I was investigated by detection of the biochemical marker
(Ala-71 or Met-30) in serum. Using the modified Sales classifica-
tion, we defined four levels of disease: grade IV (very severe, 9
patients), grade III (severe, 10 patients), grade II (moderate, 3
patients), and grade I (mild, 0 patients). Mean follow-up time was
43 months (range, 1 to 98).
RESULTS AND DISCUSSION
Table 1 summarizes the clinical data and follow up after LT
of the 22 patients. In all the patients we noted clinical
improvement of the polyneuropathy of the extremities and
autonomic dysfunction during the first 6 posttransplant
months. Clinical improvement was associated with electro-
myographic improvement. Orthostatic hypotension, intesti-
nal constipation, and bladder and sexual dysfunction im-
proved in the patients who presented with it preoperatively.
There was a progression of the vitreous amyloid deposits
after LT in the affected patients, likely in relation to the low
percentage of TTR synthesis at level of the coroid plexus.
The patients have significantly improved their quality of
life after LT. It is important to stress that LT is risk free and
that the patient must remain subject to the inconveniences
of immunosupression. We must compare the morbidity and
mortality of LT with the life quality and life expectancy of
each patient. Our results defend that LT should be indi-
cated, especially in forms with early clinical onset (3rd and
4th decades) and rapid progress, to stop the neurologic
deterioration of the patients, to avoid the fatal end of the
disease, and to improve the quality of life.
REFERENCES
1. Andrade C: Brain 75:408, 1952
2. Holmgrem G, Steen L, Ekstedt J, et al: Clin Gene 40:242,
1991
3. Parrilla P, Andreu F, Ramirez P, et al: Transplantation
57:473, 1994
From the Liver Transplant Unit, Virgen de la Arrixaca University
Hospital, Murcia, Spain.
Address reprint requests to V. Munı´tiz, Servicio Cirugia Gen-
eral Hospital Virgen, De La Arrixaca, Ctra El Palmar, 30120
Murcia, Spain.
0041-1345/02/$–see front matter © 2002 by Elsevier Science Inc.
PII S0041-1345(01)02778-6 655 Avenue of the Americas, New York, NY 10010
310 Transplantation Proceedings, 34, 310–311 (2002)