Round table of the XII Meeting of Rare Diseases.
within the rare diseases There is a specific type, known as lysosomal pathologieswhich are caused by the malfunction of the lysosomes, mainly due to problems with the enzymes it contains. In a new round table of the XII Meeting of Minority Diseasesorganized by the Spanish Society of Internal Medicine (SEMI), Fabry, Pompe, Gaucher diseases and Acid Sphingomyelinase deficiency have been highlighted. The table has been moderated by Leticia Ceberio Hualdemember of Internal Medicine of the Cruces University Hospitalin Biscay.
The possibility of discovering new Fabry mutations
Jorge Gomez Cerezo, member of the Department of Internal Medicine of the Hospital Infanta Sofiain Madrid, highlights that patients with the Fabry’s disease “they have characteristics such as pain crises at the level of the viewdisorders such as sweating, skin lesions clearly vascular, etc. It can lead to cardiac involvement in the form of hypertrophy and chronic renal failure, in addition to having cerebral vascular involvement. In diagnosis, any additional information that is consistent with the disease is a classic Fabri, so we can continue to discover new mutations. All these characteristics have been seen more in males, some group of women can cause problems in the genotypic classification. The target organs are heart Basically and sometimes kidney or both. Some authors believe that there brain diseasebut it is an exception.
Gómez: “The target organs are basically the heart and sometimes the kidney”
On the other hand, Gómez emphasizes how to act to reduce the doubts that may arise in relation to the phenotype: “When we come across uncertain meanings, if you are clear about the phenotype they are no longer uncertain. If we have a good genetic analysis and consult experts, the number of doubts is less and less. I think describe the phenotype It is a clinical position and we will rarely have doubts if we maintain this rationally and not radically.
Pompe disease slows down thanks to treatment
Patient management in Pompe disease is explained by Josep Grau Junyentmember of the Internal Medicine Service of the Hospital Clinic of Barcelona. “In a study it was shown that in Spain most of these cases are in Andalusia Y Catalonia. In the diagnosis for the disease, weakness in the lower limbs is determined late, which is the most frequent, along with respiratory problems.
As far as home therapy is concerned, the Hospital Sant Joan de Déu has two patients that this week they will already receive their second home infusion. “One of the patients diagnosed for 15 years is 73 years old, undergoing 12 years of treatment. She shows us the natural history of the disease that is slows down thanks to the treatment. We also observed that the patient suffered from an accumulation of fat on the tongue”. Grau has highlighted that the investigation continues to advance and two weeks ago a group of pulmonologists “has started, at the request of Separ, a screening for Pompe disease, known as the study Pompenyol”.
A drug starts a first-line treatment in Gaucher
Oral treatment in the disease Gaucher type 1 in the adult it is analyzed by Miguel Angel Torralba Headmember of the Internal Medicine Service of the Lozano Bleza University Hospital, in Zaragoza: “Patients with this disease suffer significant bone involvement and anemia predominates. We know how to diagnose it, quantify the phenotype, how to set therapeutic goals and individualize treatment. Currently one of the objectives is to prevent some parameters, such as avoiding splenectomy”.
One of the drugs mentioned by the specialist has been eliglustadwhich has become approved as an oral treatment of first line in Europe. In this regard, Torralba states that “the criteria for starting treatment with the disease must be be assessed individually and short-term and long-term therapeutic goals should be followed. On the other hand, it is recommended to assess the indications of each drug before starting treatment.”
Promote an early initial evaluation in Fabry for both sexes
Although the most relevant aspects of Fabry disease have been previously answered, Rosario Sanchez Martinezspecialist in Internal Medicine of the Multidisciplinary Unit for Low Prevalence Diseasescomments that “starting from a research hypothesis, there is clear evidence in the literature that women are referred to with less often for interventions of diagnosis and treated with less aggressiveness that the mens. Fabri’s disease is X-linked and the phenotype in women is highly variable. There are two types of phenotype, the classic and the late-onset. Unlike the classic, the age at which the symptoms begin is at 40-70 years, cardiovascular symptoms are suffered and it usually affects a single organ”.
Sánchez: “It is necessary to treat men and women to promote an early initial evaluation”
One of the affectations found in women and that is more than frequent are, as the specialist affirms, “of the type gastrointestinalsuch as abdominal pain and diarrhoea. There may also be an impact on the peripheral nervous system. It is necessary to treat men and women to promote a early initial evaluation. With this initial photo of the disease, we must continue looking for early signs to avoid losing the therapeutic window and manage to change the natural evolution of the disease”.
Enzyme replacement therapies against acid sphingomyelinase
Finally, the hematologist Jesus Villarrubiaof the Ramón y Cajal University Hospital Madrid, has approached from his perspective the novelties in the management of acid sphingomyelinase deficiency. “It is a disease caused by a mutation in a gene and is considered rare, progressive and frequently fatal, caused by the accumulation of sphingomyelin. Few incidence data are known and there are 0.5 cases per 100,000 inhabitants. In Spain there is no I think there are more than 40 cases”.
The classification made so far sphingomyelinase it’s divided in three types mentioned by Villarrubia: “We have the infant neurovisceralthe chronicle and the type intermediate. The affected gene is SMDP1 on chromosome 11. clinical presentation. Like all lysosomal diseases, they are also multisystemic. Currently there is no treatment and everything has been tried, although what is now under way is the enzyme replacement therapy”.
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